Publications by authors named "Richard S Cooper"

225 Publications

Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry.

Am J Hum Genet 2021 04 12;108(4):564-582. Epub 2021 Mar 12.

The Charles R. Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

Although many loci have been associated with height in European ancestry populations, very few have been identified in African ancestry individuals. Furthermore, many of the known loci have yet to be generalized to and fine-mapped within a large-scale African ancestry sample. We performed sex-combined and sex-stratified meta-analyses in up to 52,764 individuals with height and genome-wide genotyping data from the African Ancestry Anthropometry Genetics Consortium (AAAGC). We additionally combined our African ancestry meta-analysis results with published European genome-wide association study (GWAS) data. In the African ancestry analyses, we identified three novel loci (SLC4A3, NCOA2, ECD/FAM149B1) in sex-combined results and two loci (CRB1, KLF6) in women only. In the African plus European sex-combined GWAS, we identified an additional three novel loci (RCCD1, G6PC3, CEP95) which were equally driven by AAAGC and European results. Among 39 genome-wide significant signals at known loci, conditioning index SNPs from European studies identified 20 secondary signals. Two of the 20 new secondary signals and none of the 8 novel loci had minor allele frequencies (MAF) < 5%. Of 802 known European height signals, 643 displayed directionally consistent associations with height, of which 205 were nominally significant (p < 0.05) in the African ancestry sex-combined sample. Furthermore, 148 of 241 loci contained ≤20 variants in the credible sets that jointly account for 99% of the posterior probability of driving the associations. In summary, trans-ethnic meta-analyses revealed novel signals and further improved fine-mapping of putative causal variants in loci shared between African and European ancestry populations.
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http://dx.doi.org/10.1016/j.ajhg.2021.02.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8059339PMC
April 2021

Self-reported health without clinically measurable benefits among adult users of multivitamin and multimineral supplements: a cross-sectional study.

BMJ Open 2020 11 4;10(11):e039119. Epub 2020 Nov 4.

Hasso Plattner Institute for Digital Health at Mount Sinai, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

Objective: Multiple clinical trials fail to identify clinically measurable health benefits of daily multivitamin and multimineral (MVM) consumption in the general adult population. Understanding the determinants of widespread use of MVMs may guide efforts to better educate the public about effective nutritional practices. The objective of this study was to compare self-reported and clinically measurable health outcomes among MVM users and non-users in a large, nationally representative adult civilian non-institutionalised population in the USA surveyed on the use of complementary health practices.

Design: Cross-sectional analysis of the effect of MVM consumption on self-reported overall health and clinically measurable health outcomes.

Participants: Adult MVM users and non-users from the 2012 National Health Interview Survey (n=21 603).

Primary And Secondary Outcome Measures: Five psychological, physical, and functional health outcomes: (1) self-rated health status, (2) needing help with routine needs, (3) history of 10 chronic diseases, (4) presence of 19 health conditions in the past 12 months, and (5) Kessler 6-Item (K6) Psychological Distress Scale to measure non-specific psychological distress in the past month.

Results: Among 4933 adult MVM users and 16 670 adult non-users, MVM users self-reported 30% better overall health than non-users (adjusted OR 1.31; 95% CI 1.17 to 1.46; false discovery rate adjusted p<0.001). There were no differences between MVM users and non-users in history of 10 chronic diseases, number of present health conditions, severity of current psychological distress on the K6 Scale and rates of needing help with daily activities. No effect modification was observed after stratification by sex, education, and race.

Conclusions: MVM users self-reported better overall health despite no apparent differences in clinically measurable health outcomes. These results suggest that widespread use of multivitamins in adults may be a result of individuals' positive expectation that multivitamin use leads to better health outcomes or a self-selection bias in which MVM users intrinsically harbour more positive views regarding their health.
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http://dx.doi.org/10.1136/bmjopen-2020-039119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7643504PMC
November 2020

Detecting fitness epistasis in recently admixed populations with genome-wide data.

BMC Genomics 2020 Jul 11;21(1):476. Epub 2020 Jul 11.

Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, 44106, USA.

Background: Fitness epistasis, the interaction effect of genes at different loci on fitness, makes an important contribution to adaptive evolution. Although fitness interaction evidence has been observed in model organisms, it is more difficult to detect and remains poorly understood in human populations as a result of limited statistical power and experimental constraints. Fitness epistasis is inferred from non-independence between unlinked loci. We previously observed ancestral block correlation between chromosomes 4 and 6 in African Americans. The same approach fails when examining ancestral blocks on the same chromosome due to the strong confounding effect observed in a recently admixed population.

Results: We developed a novel approach to eliminate the bias caused by admixture linkage disequilibrium when searching for fitness epistasis on the same chromosome. We applied this approach in 16,252 unrelated African Americans and identified significant ancestral correlations in two pairs of genomic regions (P-value< 8.11 × 10) on chromosomes 1 and 10. The ancestral correlations were not explained by population admixture. Historical African-European crossover events are reduced between pairs of epistatic regions. We observed multiple pairs of co-expressed genes shared by the two regions on each chromosome, including ADAR being co-expressed with IFI44 in almost all tissues and DARC being co-expressed with VCAM1, S1PR1 and ELTD1 in multiple tissues in the Genotype-Tissue Expression (GTEx) data. Moreover, the co-expressed gene pairs are associated with the same diseases/traits in the GWAS Catalog, such as white blood cell count, blood pressure, lung function, inflammatory bowel disease and educational attainment.

Conclusions: Our analyses revealed two instances of fitness epistasis on chromosomes 1 and 10, and the findings suggest a potential approach to improving our understanding of adaptive evolution.
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http://dx.doi.org/10.1186/s12864-020-06874-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7353720PMC
July 2020

Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci.

Mol Psychiatry 2020 May 5. Epub 2020 May 5.

Health Disparities Research Section, Laboratory of Epidemiology and Population Sciences, National Institute on Aging, National Institutes of Health, Baltimore, MD, 21224, USA.

Educational attainment is widely used as a surrogate for socioeconomic status (SES). Low SES is a risk factor for hypertension and high blood pressure (BP). To identify novel BP loci, we performed multi-ancestry meta-analyses accounting for gene-educational attainment interactions using two variables, "Some College" (yes/no) and "Graduated College" (yes/no). Interactions were evaluated using both a 1 degree of freedom (DF) interaction term and a 2DF joint test of genetic and interaction effects. Analyses were performed for systolic BP, diastolic BP, mean arterial pressure, and pulse pressure. We pursued genome-wide interrogation in Stage 1 studies (N = 117 438) and follow-up on promising variants in Stage 2 studies (N = 293 787) in five ancestry groups. Through combined meta-analyses of Stages 1 and 2, we identified 84 known and 18 novel BP loci at genome-wide significance level (P < 5 × 10). Two novel loci were identified based on the 1DF test of interaction with educational attainment, while the remaining 16 loci were identified through the 2DF joint test of genetic and interaction effects. Ten novel loci were identified in individuals of African ancestry. Several novel loci show strong biological plausibility since they involve physiologic systems implicated in BP regulation. They include genes involved in the central nervous system-adrenal signaling axis (ZDHHC17, CADPS, PIK3C2G), vascular structure and function (GNB3, CDON), and renal function (HAS2 and HAS2-AS1, SLIT3). Collectively, these findings suggest a role of educational attainment or SES in further dissection of the genetic architecture of BP.
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http://dx.doi.org/10.1038/s41380-020-0719-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7641978PMC
May 2020

Step-Up Therapy in Black Patients with Asthma.

N Engl J Med 2020 01;382(4):390-391

Loyola University Medical School, Maywood, IL.

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http://dx.doi.org/10.1056/NEJMc1915819DOI Listing
January 2020

The Association between Cardiovascular Disease Risk Factors and 25-Hydroxivitamin D and Related Analytes among Hispanic/Latino Adults: A Pilot Study.

Nutrients 2019 Aug 20;11(8). Epub 2019 Aug 20.

Institute for Minority Health Research, University of Illinois at Chicago, Chicago, IL 60612, USA.

Although the association of vitamin D levels with cardiovascular risk profiles among Hispanics/Latinos has been studied, little is known about this association among Hispanics/Latinos with chronic conditions. This pilot study determined serum vitamin D and parathyroid hormone (PTH) levels in a sample of participants from the University of Illinois at the Chicago Cohort of Patients, Family and Friends (UIC Cohort) and examined their association with traditional cardiovascular disease risk factors. From July 2012 to June 2016, the UIC Cohort study enrolled and conducted clinical examinations on men and women ages 18 years and older, who had one or more diagnosed chronic diseases/conditions (excluding cancer). This pilot study sample included 40 participants from the six main Hispanic/Latino background groups in the United States, namely Dominican, Cuban, Puerto Rican, Mexican, Central American, and South American, and were grouped by Caribbean or mainland origin. No substantial differences were noted in the vitamin D-related measures by Hispanic/Latino background, but the PTH levels were somewhat higher in the Caribbean vs. mainland group (43.0 ± 4.6 vs. 38.6 ± 2.7 pg/mL). The associations between selected CVD risk factors (systolic and diastolic blood pressure (SBP, DBP), total cholesterol, glucose) and PTH and vitamin D-related analytes were investigated using interval-censored multivariate regression models adjusted for age, sex, percent body fat, serum albumin/calcium, and Hispanic/Latino background. A negative association between total 25[OH]D and blood pressure was corroborated (SBP: β = -1.2, 95%CI = -2.0, -0.3; DBP: β = -0.7, 95% CI = -1.2, -0.1), whereas a positive association with total cholesterol was observed (β = 1.9, 95% CI = 0.02, 3.7). Levels of 1, 25[OH]D were not associated with CVD risk factors, whereas 24, 25[OH]D was associated with blood pressure (SBP: β = -13.0, 95% CI = -20.7, -5.2; DBP: β = -6.3, 95% CI = -11.6, -1.0). Estimated free 25[OH]D was inversely associated with both SBP (β = -3.5, 95% CI = -6.1, -0.9) and DBP (β = -2.1, 95% CI = -3.8, -0.3). Similarly, calculated bioavailable 25[OH]D was inversely associated with both SBP (β = -9.2, 95% CI = -15.9, -2.4) and DBP(β = -5.3, 95% CI = -9.8, -0.8). In conclusion, a negative association between 25[OH]D with BP was observed and a positive association with lipids is suggested. Due to the small sample size, most associations did not reach statistical significance.
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http://dx.doi.org/10.3390/nu11081959DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6723220PMC
August 2019

Trends and Racial Disparities of Palliative Care Use among Hospitalized Patients with ESKD on Dialysis.

J Am Soc Nephrol 2019 09 6;30(9):1687-1696. Epub 2019 Aug 6.

Division of Nephrology and

Background: Study findings show that although palliative care decreases symptom burden, it is still underused in patients with ESKD. Little is known about disparity in use of palliative care services in such patients in the inpatient setting.

Methods: To investigate the use of palliative care consultation in patients with ESKD in the inpatient setting, we conducted a retrospective cohort study using the National Inpatient Sample from 2006 to 2014 to identify admitted patients with ESKD requiring maintenance dialysis. We compared palliative care use among minority groups (black, Hispanic, and Asian) and white patients, adjusting for patient and hospital variables.

Results: We identified 5,230,865 hospitalizations of such patients from 2006 through 2014, of which 76,659 (1.5%) involved palliative care. The palliative care referral rate increased significantly, from 0.24% in 2006 to 2.70% in 2014 (<0.01). Black and Hispanic patients were significantly less likely than white patients to receive palliative care services (adjusted odds ratio [aOR], 0.72; 95% confidence interval [95% CI], 0.61 to 0.84, <0.01 for blacks and aOR, 0.46; 95% CI, 0.30 to 0.68, <0.01 for Hispanics). These disparities spanned across all hospital subtypes, including those with higher proportions of minorities. Minority patients with lower socioeconomic status (lower level of income and nonprivate health insurance) were also less likely to receive palliative care.

Conclusions: Despite a clear increase during the study period in provision of palliative care for inpatients with ESKD, significant racial disparities occurred and persisted across all hospital subtypes. Further investigation into causes of racial and ethnic disparities is necessary to improve access to palliative care services for the vulnerable ESKD population.
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http://dx.doi.org/10.1681/ASN.2018121256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6727267PMC
September 2019

A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure.

Hum Mol Genet 2019 08;28(15):2615-2633

Icelandic Heart Association, Kopavogur, Iceland.

Elevated blood pressure (BP), a leading cause of global morbidity and mortality, is influenced by both genetic and lifestyle factors. Cigarette smoking is one such lifestyle factor. Across five ancestries, we performed a genome-wide gene-smoking interaction study of mean arterial pressure (MAP) and pulse pressure (PP) in 129 913 individuals in stage 1 and follow-up analysis in 480 178 additional individuals in stage 2. We report here 136 loci significantly associated with MAP and/or PP. Of these, 61 were previously published through main-effect analysis of BP traits, 37 were recently reported by us for systolic BP and/or diastolic BP through gene-smoking interaction analysis and 38 were newly identified (P < 5 × 10-8, false discovery rate < 0.05). We also identified nine new signals near known loci. Of the 136 loci, 8 showed significant interaction with smoking status. They include CSMD1 previously reported for insulin resistance and BP in the spontaneously hypertensive rats. Many of the 38 new loci show biologic plausibility for a role in BP regulation. SLC26A7 encodes a chloride/bicarbonate exchanger expressed in the renal outer medullary collecting duct. AVPR1A is widely expressed, including in vascular smooth muscle cells, kidney, myocardium and brain. FHAD1 is a long non-coding RNA overexpressed in heart failure. TMEM51 was associated with contractile function in cardiomyocytes. CASP9 plays a central role in cardiomyocyte apoptosis. Identified only in African ancestry were 30 novel loci. Our findings highlight the value of multi-ancestry investigations, particularly in studies of interaction with lifestyle factors, where genomic and lifestyle differences may contribute to novel findings.
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http://dx.doi.org/10.1093/hmg/ddz070DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6644157PMC
August 2019

Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

Nat Genet 2019 04 29;51(4):636-648. Epub 2019 Mar 29.

Human Genomics Laboratory, Pennington Biomedical Research Center, Baton Rouge, LA, USA.

The concentrations of high- and low-density-lipoprotein cholesterol and triglycerides are influenced by smoking, but it is unknown whether genetic associations with lipids may be modified by smoking. We conducted a multi-ancestry genome-wide gene-smoking interaction study in 133,805 individuals with follow-up in an additional 253,467 individuals. Combined meta-analyses identified 13 new loci associated with lipids, some of which were detected only because association differed by smoking status. Additionally, we demonstrate the importance of including diverse populations, particularly in studies of interactions with lifestyle factors, where genomic and lifestyle differences by ancestry may contribute to novel findings.
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http://dx.doi.org/10.1038/s41588-019-0378-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467258PMC
April 2019

A Computable Phenotype for Acute Respiratory Distress Syndrome Using Natural Language Processing and Machine Learning.

AMIA Annu Symp Proc 2018 5;2018:157-165. Epub 2018 Dec 5.

Department of Public Health Sciences, Stritch School of Medicine, Loyola University Chicago, Maywood, IL.

Acute Respiratory Distress Syndrome (ARDS) is a syndrome of respiratory failure that may be identified using text from radiology reports. The objective of this study was to determine whether natural language processing (NLP) with machine learning performs better than a traditional keyword model for ARDS identification. Linguistic pre-processing of reports was performed and text features were inputs to machine learning classifiers tuned using 10-fold cross-validation on 80% of the sample size and tested in the remaining 20%. A cohort of 533 patients was evaluated, with a data corpus of 9,255 radiology reports. The traditional model had an accuracy of 67.3% (95% CI: 58.3-76.3) with a positive predictive value (PPV) of 41.7% (95% CI: 27.7-55.6). The best NLP model had an accuracy of 83.0% (95% CI: 75.9-90.2) with a PPV of 71.4% (95% CI: 52.1-90.8). A computable phenotype for ARDS with NLP may identify more cases than the traditional model.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6371271PMC
September 2019

American Ancestry Is a Risk Factor for Suspected Nonalcoholic Fatty Liver Disease in Hispanic/Latino Adults.

Clin Gastroenterol Hepatol 2019 10 8;17(11):2301-2309. Epub 2019 Feb 8.

Division of Hepatology, Loyola University Medical Center, Maywood, Illinois.

Background & Aims: Nonalcoholic fatty liver disease (NAFLD) disproportionally affects Hispanic/Latino populations. However, the magnitude varies among Hispanic/Latino ethnic groups. We investigated the mechanisms of these disparities.

Methods: We examined associations of NAFLD-associated genetic variants and continental ancestry with suspected NAFLD, levels of alanine aminotransferase (ALT), and liver fibrosis using data from the Hispanic Community Health Study/Study of Latinos-a population-based study of Hispanic/Latino adults in the United States. We evaluated data from 16,415 Hispanic/Latino adults in 4 cities from 2008 through 2011. Subjects suspected of having NAFLD or liver fibrosis were identified based on unexplained increases in levels of aminotransferases and FIB-4 score, respectively.

Results: Among the 9342 participants with available genetic and aminotransferase data, the PNPLA3 G allele (odds ratio [OR], 1.53; 95% CI, 1.41-1.66), TM6SF2 T allele (OR, 1.41; 95% CI, 1.20-1.67), and PPP1R3B G allele (OR, 1.16; 95% CI, 1.06-1.28) were associated with suspected NAFLD. PNPLA3 G was also associated with increased levels of ALT, except in participants with Dominican and South American backgrounds, and with liver fibrosis. The frequency of PNPLA3 G was high (41%) and TM6SF2 T (5%) was low in Hispanic/Latinos. PNPLA3 G frequency differed among Hispanic background groups with the highest proportion in Mexicans (52%) and the lowest proportion in Dominicans (23%). After adjustment for demographic, clinical, and behavioral factors, as well as PNPLA3 G, TM6SF2 T, and PPP1R3B G, American ancestry had a positive association with level of ALT (r = 6.61%; P < .001), whereas African (r = -3.84%; P < .001) and European (r = -4.31%; P < .001) ancestry were inversely associated with level of ALT.

Conclusions: American ancestry and PNPLA3 G are independent predictors of ALT levels in US Hispanic/Latinos and may in part explain NAFLD disparities in US Hispanic/Latinos.
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http://dx.doi.org/10.1016/j.cgh.2019.02.007DOI Listing
October 2019

Precision Medicine vs Preventive Medicine-Reply.

JAMA 2019 01;321(4):406-407

Department of Public Health Sciences, Loyola University Medical School, Chicago, Illinois.

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http://dx.doi.org/10.1001/jama.2018.18664DOI Listing
January 2019

Control of Cardiovascular Disease in the 20th Century: Meeting the Challenge of Chronic Degenerative Disease.

Authors:
Richard S Cooper

Perspect Biol Med 2018 ;61(4):550-559

After World War II, industrialized countries found themselves faced with a new epidemic of chronic disease. Stroke had long been a common cause of death, however a much more virulent form of vascular disease involving the coronary arteries was now recognized as a major public health challenge. By the late 1950s, cardiovascular diseases (CVD) accounted for almost two-thirds of deaths in the US. Within 10 years, the key causal factors underlying CVD had been fully defined, and by the mid-1960s, prevention trials, policy changes, and subsequent population-wide risk factor improvement and targeted high-risk medical therapy led to a rapid and sustained decline in both coronary heart disease (CHD) and stroke. By the turn of the century, CVD had declined over 80%, transforming health for adults and providing the main driver of lengthening life expectancy. This transformative process has now reached every country in the world. Epidemiologic, nutritional and clinical research, along with changes in social norms, public health education, smoke-free indoor air regulations, drug development, and clinical trials have led to the astounding success of the CVD control movement. The broad pattern pursued in the control of CVD provides a template for similar control efforts aimed at cancer, diabetes, renal disease, and other common chronic diseases.
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http://dx.doi.org/10.1353/pbm.2018.0064DOI Listing
January 2019

Potential Cardiovascular Disease Events Prevented with Adoption of the 2017 American College of Cardiology/American Heart Association Blood Pressure Guideline.

Circulation 2019 01;139(1):24-36

Division of General Medicine (B.K.B., A.E.M.), Columbia University Medical Center, New York, NY.

Background: Over 10 years, achieving and maintaining 2017 ACC/AHA guideline goals could prevent 3.0 million (UR, 1.1-5.1 million), 0.5 million (UR, 0.2-0.7 million), and 1.4 million (UR, 0.6-2.0 million) cardiovascular disease (CVD) events compared with maintaining current blood pressure (BP) levels, achieving 2003 Seventh Joint National Committee Report goals, and achieving 2014 Eighth Joint National Committee goals, respectively. We estimated the number of cardiovascular disease events prevented and treatment-related serious adverse events incurred over 10 years among US adults with hypertension by achieving 2017 ACC/AHA guideline-recommended BP goals compared with (1) current BP levels, (2) achieving 2003 Seventh Joint National Committee Report BP goals, and (3) achieving 2014 Eighth Joint National Committee panel member report BP goals.

Methods: US adults aged ≥45 years with an indication for BP treatment were grouped according to recommendations for antihypertensive drug therapy in the 2017 ACC/AHA guideline, 2003 Seventh Joint National Committee Report, and 2014 Eighth Joint National Committee. Population sizes were estimated from the 2011 to 2014 National Health and Nutrition Examination Surveys. Rates for fatal and nonfatal CVD events (stroke, coronary heart disease, or heart failure) were estimated from the REGARDS (REasons for Geographic And Racial Differences in Stroke) study, weighted to the US population. CVD risk reductions with treatment to BP goals and risk for serious adverse events were obtained from meta-analyses of BP-lowering trials. CVD events prevented and treatment-related nonfatal serious adverse events over 10 years were calculated. Uncertainty surrounding main data inputs was expressed in uncertainty ranges (UR).

Results: Over ten years, achieving and maintaining 2017 ACC/AHA guideline goals compared with current BP levels, achieving 2003 Seventh Joint National Committee Report goals, or achieving 2014 Eighth Joint National Committee goals could prevent 3.0 million (UR, 1.1-5.1 million), 0.5 million (UR, 0.2-0.7 million), or 1.4 million (UR, 0.6-2.0 million) CVD events, respectively. Compared with current BP levels, achieving and maintaining 2017 goals could prevent 71.9 (UR, 26.6-122.3) CVD events per 1000 treated. Achieving 2017 guideline BP goals compared with current BP levels could also lead to nearly 3.3 million more serious adverse events over 10 years (UR, 2.2-4.4 million).

Conclusions: Achieving and maintaining 2017 ACC/AHA BP goals could prevent a greater number of CVD events than achieving 2003 Seventh Joint National Committee Report or 2014 Eighth Joint National Committee BP goals but could also lead to more serious adverse events.
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http://dx.doi.org/10.1161/CIRCULATIONAHA.118.035640DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6311714PMC
January 2019

White Paper: Pathways to Progress in Newborn Screening for Sickle Cell Disease in Sub-Saharan Africa.

J Trop Dis Public Health 2018 10;6(2):260. Epub 2018 Jul 10.

Department of Public Health Sciences, Loyola University Chicago Stritch School of Medicine, Maywood, IL, USA.

Sickle Cell Disease (SCD) is among the most common single-gene diseases in the world but evidence-based comprehensive health care has not been implemented where the highest prevalence of SCD occurs, in sub-Saharan Africa (SSA). It represents an urgent health burden, both in terms of mortality and morbidity with an estimated mortality of 8-16% in children under 5 years in SSA. Addressing the high mortality of SCD in SSA and for effective management of SCD, newborn screening (NBS) should be incorporated with prevention of infections (including pneumococcal septicaemia and malaria), parental education and support at all levels of healthcare provision to enable timely recognition. The NBS working group of the Africa Sickle Cell Research Network (AfroSickleNet) collaboration surveyed current projects in NBS in SSA, and current conditions that hinder more widespread implementation of NBS for SCD. Solutions based on new point-of-care testing technology to disseminate education, and implementation science approaches that leverage existing resources are proposed.
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http://dx.doi.org/10.4172/2329-891X.1000260DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6261323PMC
July 2018

Sickle Cell Disease Clinical Trials and Phenotypes.

J Trop Dis Public Health 2018 8;6(2):259. Epub 2018 Apr 8.

Department of Public Health Sciences, Loyola University Chicago Stritch School of Medicine, Maywood, IL, USA.

Sickle cell disease, one of the world's most common genetic disorders is prevalent in sub-Saharan Africa. The trans-Atlantic slave trade accounted for the gene movement from Africa to the Caribbean and United States of America and lately, migration has resulted in the introduction of the gene to the United Kingdom and other parts of Europe. Different haplotypes exist, however the differences in these haplotypes are not sufficient to explain the different clinical variations within the same region or different settings.
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http://dx.doi.org/10.4172/2329-891X.1000259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6219473PMC
April 2018

The Association Between Tea Consumption and Hyperhomocysteine in Chinese Hypertensive Patients.

Am J Hypertens 2019 01;32(2):209-215

Chronic Disease and Health Management Research Center, Geriatrics Institute of Jiangsu Province, Nanjing, China.

Background: There is no consistent evidence for the relationship between tea-drinking and hyperhomocysteine (hHcy). Because tea-drinking habit and hHcy have prevailed in Chinese hypertensive patients, this study aimed to investigate the association between hHcy and tea consumption in patients with hypertension.

Methods: A total of 335 hypertensive participants were recruited from 7 communities. Demographic characteristics of participants were collected through face-to-face interviews using a standard questionnaire, whereas laboratory data were obtained within 1 week after patient recruitment. Multiple logistic regression analysis was performed to examine the association between tea consumption and hHcy in hypertensive patients.

Results: Of the 335 patients, 245 had a tea-drinking habit, and 252 of them were detected with hHcy. A significant association was found between tea consumption and hHcy in hypertensive patients (adjusted odds ratio [OR] = 1.84, 95% confidence interval [CI] = 1.01-3.36, P = 0.048). Subgroup analyses showed that black tea drinking group (adjusted OR = 8.81, 95% CI = 2.74-28.33, P < 0.001) was significantly associated with the risk of hHcy, but not oolong and green tea drinking groups (P > 0.05). Furthermore, consuming a small amount (≤1 cup per day) of green tea was negatively associated with hHcy (adjusted OR = 0.19, 95% CI = 0.07-0.51, P = 0.001), whereas a large intake (>3 cups per day) of green tea was associated with high odds of hHcy (adjusted OR = 5.00, 95% CI = 1.33-18.79, P = 0.02).

Conclusions: These data suggest a hypothesis that selecting green tea or limiting tea consumption might reduce risk of hHcy in hypertensive patients and that warrants further study.
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http://dx.doi.org/10.1093/ajh/hpy163DOI Listing
January 2019

Race, Ancestry, and Reporting in Medical Journals.

JAMA 2018 Oct;320(15):1531-1532

Center for Healthful Behavior Change, Department of Population Health, New York University School of Medicine, New York, New York.

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http://dx.doi.org/10.1001/jama.2018.10960DOI Listing
October 2018

Combined linkage and association analysis identifies rare and low frequency variants for blood pressure at 1q31.

Eur J Hum Genet 2019 02 27;27(2):269-277. Epub 2018 Sep 27.

Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, 44106, USA.

High blood pressure (BP) is a major risk factor for cardiovascular disease (CVD) and is more prevalent in African Americans as compared to other US groups. Although large, population-based genome-wide association studies (GWAS) have identified over 300 common polymorphisms modulating inter-individual BP variation, largely in European ancestry subjects, most of them do not localize to regions previously identified through family-based linkage studies. This discrepancy has remained unexplained despite the statistical power differences between current GWAS and prior linkage studies. To address this issue, we performed genome-wide linkage analysis of BP traits in African-American families from the Family Blood Pressure Program (FBPP) and genotyped on the Illumina Human Exome BeadChip v1.1. We identified a genomic region on chromosome 1q31 with LOD score 3.8 for pulse pressure (PP), a region we previously implicated in DBP studies of European ancestry families. Although no reported GWAS variants map to this region, combined linkage and association analysis of PP identified 81 rare and low frequency exonic variants accounting for the linkage evidence. Replication analysis in eight independent African ancestry cohorts (N = 16,968) supports this specific association with PP (P = 0.0509). Additional association and network analyses identified multiple potential candidate genes in this region expressed in multiple tissues and with a strong biological support for a role in BP. In conclusion, multiple genes and rare variants on 1q31 contribute to PP variation. Beyond producing new insights into PP, we demonstrate how family-based linkage and association studies can implicate specific rare and low frequency variants for complex traits.
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http://dx.doi.org/10.1038/s41431-018-0277-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336803PMC
February 2019

Comparison of 2 Treatment Models: Precision Medicine and Preventive Medicine.

JAMA 2018 08;320(8):751-752

Department of Public Health Sciences, Loyola University Medical School, Maywood, Illinois.

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http://dx.doi.org/10.1001/jama.2018.8377DOI Listing
August 2018

Blood pressures are going down worldwide-but why?

Int J Epidemiol 2018 Jun;47(3):884-886

Department of Public Health Sciences, Loyola University Medical School, Maywood, IL, USA.

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http://dx.doi.org/10.1093/ije/dyy123DOI Listing
June 2018

A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.

Am J Hum Genet 2018 03 15;102(3):375-400. Epub 2018 Feb 15.

Health Disparities Research Section, Laboratory of Epidemiology and Population Sciences, National Institute on Aging, NIH, Baltimore, MD 21224, USA.

Genome-wide association analysis advanced understanding of blood pressure (BP), a major risk factor for vascular conditions such as coronary heart disease and stroke. Accounting for smoking behavior may help identify BP loci and extend our knowledge of its genetic architecture. We performed genome-wide association meta-analyses of systolic and diastolic BP incorporating gene-smoking interactions in 610,091 individuals. Stage 1 analysis examined ∼18.8 million SNPs and small insertion/deletion variants in 129,913 individuals from four ancestries (European, African, Asian, and Hispanic) with follow-up analysis of promising variants in 480,178 additional individuals from five ancestries. We identified 15 loci that were genome-wide significant (p < 5 × 10) in stage 1 and formally replicated in stage 2. A combined stage 1 and 2 meta-analysis identified 66 additional genome-wide significant loci (13, 35, and 18 loci in European, African, and trans-ancestry, respectively). A total of 56 known BP loci were also identified by our results (p < 5 × 10). Of the newly identified loci, ten showed significant interaction with smoking status, but none of them were replicated in stage 2. Several loci were identified in African ancestry, highlighting the importance of genetic studies in diverse populations. The identified loci show strong evidence for regulatory features and support shared pathophysiology with cardiometabolic and addiction traits. They also highlight a role in BP regulation for biological candidates such as modulators of vascular structure and function (CDKN1B, BCAR1-CFDP1, PXDN, EEA1), ciliopathies (SDCCAG8, RPGRIP1L), telomere maintenance (TNKS, PINX1, AKTIP), and central dopaminergic signaling (MSRA, EBF2).
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http://dx.doi.org/10.1016/j.ajhg.2018.01.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985266PMC
March 2018

Reducing Cardiovascular Disparities Through Community-Engaged Implementation Research: A National Heart, Lung, and Blood Institute Workshop Report.

Circ Res 2018 01;122(2):213-230

From the Center for Translation Research and Implementation Science, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD (G.A.M., L.N.P., M.C.G.P., B.J.N., R.A.R., M.M.E.); Loyola University Medical School, Department of Public Health Sciences, Chicago, IL (R.S.C.); University of Virginia School of Nursing, Charlottesville (A.M.S.-R.); Johns Hopkins School of Medicine, Department of Medicine, Baltimore, MD (L.A.C.); Johns Hopkins Bloomberg School of Public Health, Department of Health, Behavior, and Society, Baltimore, MD (L.A.C.); Center for Prevention Implementation Methodology (Ce-PIM), Northwestern University Feinberg School of Medicine, Chicago, IL (J.D.S., C.H.B.); Department of Family Medicine, University of Colorado Anschutz Medical Campus, Aurora (J.M.W.); Morehouse School of Medicine, Department of Medicine, Atlanta, GA (E.O.O.); Division of Cardiovascular Sciences, National Heart, Lung, and Blood Institute, Bethesda, MD (S.A., C.R.N., N.R., M.L.A.-S., J.P.R., C.A.P., D.C.G.); University of Mississippi Medical Center, John D. Bower School of Population Health, Jackson (B.M.B.); University of North Carolina at Chapel Hill School of Nursing (J.L.B.); Michigan State University College of Human Medicine, Department of Epidemiology and Biostatistics, East Lansing (D.F.-H.); National Human Genome Research Institute, Bethesda, MD (S.Y.G.); School of Public Health, University of Illinois at Chicago (W.H.G., K.S.W.); Office of the Director, National Institute on Minority Health and Health Disparities, National Institutes of Health, Bethesda, MD (R.S.J., E.J.P.-S.); Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, GA (T.T.L.); Institute for Health Metrics and Evaluation, University of Washington, Seattle (A.H.M.); Department of Neurology, University of Louisville, KY (K.D.M.); Department of Population Health, Center for Healthful Behavior Change, New York University School of Medicine, New York (J.E.R.); Community-Campus Partnerships for Health, Raleigh, NC (A.R.); UK Medical Center, University of Kentucky, Department of Medical Behavioral Science, Lexington (N.E.S.); Department of Medicine, Jackson Heart Study, University of Mississippi Medical Center (M.S.); Office of Health Equity, Health Resources and Services Administration, Rockville, MD (G.K.S.); National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD (A.E.S.); and Social and Health Research Center, San Antonio, TX (R.P.T.).

Cardiovascular disparities remain pervasive in the United States. Unequal disease burden is evident among population groups based on sex, race, ethnicity, socioeconomic status, educational attainment, nativity, or geography. Despite the significant declines in cardiovascular disease mortality rates in all demographic groups during the last 50 years, large disparities remain by sex, race, ethnicity, and geography. Recent data from modeling studies, linked micromap plots, and small-area analyses also demonstrate prominent variation in cardiovascular disease mortality rates across states and counties, with an especially high disease burden in the southeastern United States and Appalachia. Despite these continued disparities, few large-scale intervention studies have been conducted in these high-burden populations to examine the feasibility of reducing or eliminating cardiovascular disparities. To address this challenge, on June 22 and 23, 2017, the National Heart, Lung, and Blood Institute convened experts from a broad range of biomedical, behavioral, environmental, implementation, and social science backgrounds to summarize the current state of knowledge of cardiovascular disease disparities and propose intervention strategies aligned with the National Heart, Lung, and Blood Institute mission. This report presents the themes, challenges, opportunities, available resources, and recommended actions discussed at the workshop.
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http://dx.doi.org/10.1161/CIRCRESAHA.117.312243DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777283PMC
January 2018

Independent association of resting energy expenditure with blood pressure: confirmation in populations of the African diaspora.

BMC Cardiovasc Disord 2018 01 10;18(1). Epub 2018 Jan 10.

Department of Public Health Sciences, Stritch School of Medicine, Loyola University Chicago, Maywood, IL, USA.

Background: Obesity is a major risk factor for hypertension, however, the physiologic mechanisms linking increased adiposity to elevations in blood pressure are not well described. An increase in resting energy expenditure (REE) is an obligatory consequence of obesity. Previous survey research has demonstrated that REE is an independent predictor of blood pressure, and eliminates the co-linear association of body mass index. This observation has received little attention and there have been no attempts to provide a causal explanation.

Methods: At baseline in an international comparative study on obesity, 289 participants aged 25-44 were recruited from communities in the US, the Seychelles, Ghana and South Africa and had REE measured with indirect calorimetry. All participants were thought to be free of major illness.

Results: In multivariate regression models, both systolic and diastolic blood pressure were positively associated with REE (p < 0.01), while body mass index and fat mass were negatively correlated with systolic blood pressure (p < 0.01, and p < 0.05 respectively), but not diastolic blood pressure.

Conclusions: These data confirm previous reports and suggest that a common physiologic abnormality links REE and blood pressure. Elevated catecholamines, a putative metabolic characteristic of obesity, is a possible candidate to explain this association. The direct role of excess adipose tissue is open to question.
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http://dx.doi.org/10.1186/s12872-017-0737-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5763572PMC
January 2018

Swing voting in the 2016 presidential election in counties where midlife mortality has been rising in white non-Hispanic Americans.

Soc Sci Med 2018 01 2;197:33-38. Epub 2017 Dec 2.

Department of Public Health Sciences, Loyola University Stritch School of Medicine, Chicago, IL, 60153, USA.

Understanding the effects of widespread disruption of the social fabric on public health outcomes can provide insight into the forces that drive major political realignment. Our objective was to estimate the association between increases in mortality in middle-aged non-Hispanic white adults from 1999 to 2005 to 2009-2015, health inequalities in life expectancy by income, and the surge in support for the Republican Party in pivotal US counties in the 2016 presidential election. We conducted a longitudinal ecological study in 2764 US counties from 1999 to 2016. Increases in mortality were measured using age-specific (45-54 years of age) all-cause mortality from 1999 to 2005 to 2009-2015 at the county level. Support for the Republican Party was measured as the party's vote share in the presidential election in 2016 adjusted for results in 2008 and 2012. We found a significant up-turn in mortality from 1999 to 2005 to 2009-2015 in counties where the Democratic Party won twice (2008 and 2012) but where the Republican Party won in 2016 (+10.7/100,000), as compared to those in which the Democratic Party won in 2016 (-15.7/100,000). An increase in mortality of 15.2/100,000 was associated with a significant (p < 0.001) 1% vote swing from the 2008-2012 average to 2016. We also found that counties with wider health inequalities in life expectancy were more likely to vote Republican in 2016, regardless of the previous voting patterns. Counties with worsening premature mortality in the last 15 years and wider health inequalities shifted votes toward the Republican Party presidential candidate. Further understanding of causes of unanticipated deterioration in health in the general population can inform social policy.
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http://dx.doi.org/10.1016/j.socscimed.2017.11.050DOI Listing
January 2018

Admixture mapping in the Hispanic Community Health Study/Study of Latinos reveals regions of genetic associations with blood pressure traits.

PLoS One 2017 20;12(11):e0188400. Epub 2017 Nov 20.

Department of Epidemiology, University of North Carolina, Chapel Hill, NC, United States of America.

Admixture mapping can be used to detect genetic association regions in admixed populations, such as Hispanics/Latinos, by estimating associations between local ancestry allele counts and the trait of interest. We performed admixture mapping of the blood pressure traits systolic and diastolic blood pressure (SBP, DBP), mean arterial pressure (MAP), and pulse pressure (PP), in a dataset of 12,116 participants from the Hispanic Community Health Study/Study of Latinos (HCHS/SOL). Hispanics/Latinos have three predominant ancestral populations (European, African, and Amerindian), for each of which we separately tested local ancestry intervals across the genome. We identified four regions that were significantly associated with a blood pressure trait at the genome-wide admixture mapping level. A 6p21.31 Amerindian ancestry association region has multiple known associations, but none explained the admixture mapping signal. We identified variants that completely explained this signal. One of these variants had p-values of 0.02 (MAP) and 0.04 (SBP) in replication testing in Pima Indians. A 11q13.4 Amerindian ancestry association region spans a variant that was previously reported (p-value = 0.001) in a targeted association study of Blood Pressure (BP) traits and variants in the vitamin D pathway. There was no replication evidence supporting an association in the identified 17q25.3 Amerindian ancestry association region. For a region on 6p12.3, associated with African ancestry, we did not identify any candidate variants driving the association. It may be driven by rare variants. Whole genome sequence data may be necessary to fine map these association signals, which may contribute to disparities in BP traits between diverse populations.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0188400PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5695820PMC
December 2017

Response by Bress et al to Letters Regarding Article, "Potential Deaths Averted and Serious Adverse Events Incurred From Adoption of the SPRINT (Systolic Blood Pressure Intervention Trial) Intensive Blood Pressure Regimen in the United States: Projections from NHANES (National Health and Nutrition Examination Survey)".

Circulation 2017 09;136(12):1174-1175

From Department of Population Health Sciences, University of Utah, Salt Lake City (A.P.B.); Department of Public Health Sciences, Loyola Medical Center, Maywood, IL (H.K., R.S.C.); and Division of Nephrology and Hypertension, Loyola Medical Center, Maywood, IL (H.K.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.117.029937DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5659344PMC
September 2017
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