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Ann Hum Genet 2019 Apr 17. Epub 2019 Apr 17.

Department of Biochemical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

Classic galactosaemia is an inherited metabolic disorder of galactose metabolism caused by deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT) resulting from mutations in the GALT gene. The objectives of the present study were the determination of the carrier frequency of classic galactosaemia in the Greek Cypriot population and the molecular characterization of the disease alleles. We performed an epidemiological study involving 528 Greek Cypriots originating from all parts of Cyprus. Read More

Ann Hum Genet 2019 Apr 12. Epub 2019 Apr 12.

The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

Four affected individuals of consanguineous kindred presented at infancy with an apparently autosomal recessive syndrome of polyuria and hypokalemic metabolic alkalosis, following maternal polyhydramnios and premature delivery, culminating in severe failure to thrive. Hypercalciuria, nephrocalcinosis, and hyperaldosteronism were further apparent as well as an unusual finding of intermittent hypernatremia. Additionally, all patients demonstrated variable micrognathia with upper respiratory airway abnormalities. Read More

Ann Hum Genet 2019 Apr 9. Epub 2019 Apr 9.

Department of Biotechnology, University of Malakand, Chakdara, Pakistan.

Single-nucleotide polymorphisms (SNPs) in genes coding for microRNAs (miRNAs) play a pivotal role in the progression of breast cancer (BC). We investigated the association of miR-146a rs2910164 GC polymorphism with the risk of BC in the Pakistani population. The miR-146a rs2910164 polymorphism was genotyped in 300 BC cases and 300 age- and gender-matched healthy controls using T-ARMS-PCR. Read More

Ann Hum Genet 2019 Apr 2. Epub 2019 Apr 2.

Section on Growth and Obesity, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, DHHS, Bethesda, MD, 20892.

Background: The MC3R haplotype C17A + G241A, which encodes a partially inactivated receptor, has high prevalence in individuals of predominately African ancestry. In pediatric cohorts, homozygosity for this common variant has been associated with obesity, reduced lean mass, and greater fasting insulin. However, metabolic and body composition measures have not been well studied in adults with this haplotype. Read More

Ann Hum Genet 2019 May 25;83(3):192-193. Epub 2019 Mar 25.

Ann Hum Genet 2019 Mar 25. Epub 2019 Mar 25.

UCL Genetics Institute, UCL, London, United Kingdom.

Objectives: A recent study claimed that genome-wide polygenic scores (GPSs) for five common diseases could identify individuals with risk equivalent to monogenic mutations. Receiver operator curve analyses were reported to have areas under the curve (AUCs) ranging from 0.63 for inflammatory bowel disease up to 0. Read More

Ann Hum Genet 2019 Mar 20. Epub 2019 Mar 20.

School of Forensic Medicine, China Medical University, Shenbei New District, Shenyang, China.

Purpose: China harbors 56 ethnic groups and Han accounts for >92% of the total Chinese population. We investigated the frequencies of 15 autosomal short tandem repeat (STR) loci in the Han population of the Ili Kazakh Autonomous Prefecture with the aim of expanding the available population information in human genetics databases and for forensic DNA analysis.

Subjects And Methods: We explored the genetic characteristics of 15 autosomal STR loci in 552 unrelated Chinese Han individuals from Ili Kazakh Autonomous Prefecture, Northwestern China using the AmpFISTR Identifiler PCR Amplification Kit. Read More

Ann Hum Genet 2019 Mar 20. Epub 2019 Mar 20.

Transalational Genomics Laboratory, Department of Biosciences, COMSATS University Islamabad, Pakistan.

Age-related macular degeneration (AMD) is a disease of the elderly in which central vision is lost because of degenerative changes of the macula. The current study investigated the association of single-nucleotide polymorphisms (SNPs) with AMD in the Pakistani population. Four SNPs were analyzed in this study: rs1061170 in the CFH, rs429608 near CFB, rs2230199 in the C3, and rs10490924 in ARMS2/HTRA1. Read More

Ann Hum Genet 2019 Mar 19. Epub 2019 Mar 19.

University of Health Sciences, Lahore, 54600, Pakistan.

Consanguinity has highly complex and multifaceted aspects with sociocultural as well as biological debates on its pros and cons. The biological upshot of consanguinity includes the increased homozygosity, which results in manifold increased risk of genetic disorders at family and population levels. On the other hand, in addition to social, cultural, political, and economic benefits, consanguineous marriages have biological advantages at the population level. Read More

Ann Hum Genet 2019 Mar 19. Epub 2019 Mar 19.

Department of Biomedical Diagnostics, Hospital San Pedro, Logroño, Spain.

Ataxia-telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder characterized by progressive cerebellar ataxia, ocular apraxia, immunodeficiency, telangiectasia, elevated serum α-fetoprotein concentration, radiosensitivity and cancer predisposition. Classical A-T is caused by biallelic variants on ATM (ataxia telangiectasia mutated) gene, leading to a loss of function of the protein kinase ATM, involved in DNA damage repair. Atypical presentations can be found in A-T-like disease or in Nijmegen breakage syndrome, caused by deficiency of mre11 or nibrin proteins, respectively. Read More

Ann Hum Genet 2019 Mar 19. Epub 2019 Mar 19.

Genetics of Non-communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran.

Several lines of evidence support an association between tropomyosin 1 (TPM1) and the risk of nonsyndromic cleft lip with or without cleft palate (NSCL/P). The present study aimed to investigate the association between TPM1 polymorphisms and the risk of NSCL/P in an Iranian population. This case-control was done on 105 NSCL/P patients and 110 unrelated healthy controls. Read More

Ann Hum Genet 2019 Mar 19. Epub 2019 Mar 19.

Human Reproduction and Genetics Center, Faculdade de Medicina ABC, Av. Lauro Gomes, 2000, Santo Andre/São Paulo, Brazil.

The STAT4 gene is vital to signaling pathways in the immune response. Immunological alterations are involved in the pathogenesis of endometriosis, and STAT4 polymorphisms may be linked to disease development. This study's aim is to evaluate the possible association between four STAT4 polymorphisms (rs7601754/G > A, rs11889341/C > T, rs7574865/T > G, and rs7582694/C > G) and the pathogenesis of endometriosis in Brazilian women. Read More

Ann Hum Genet 2019 Mar 13. Epub 2019 Mar 13.

Gomal Centre of Biochemistry and Biotechnology, Gomal University, D.I. Khan, Pakistan.

Oculocutaneous albinism (OCA) is an autosomal-recessive disorder of a defective melanin pathway. The condition is characterized by hypopigmentation of hair, dermis, and ocular tissue. Genetic studies have reported seven nonsyndromic OCA genes, among which Pakistani OCA families mostly segregate TYR and OCA2 gene mutations. Read More

Ann Hum Genet 2019 Mar 7. Epub 2019 Mar 7.

Laboratório de Genética e Biologia Molecular, Universidade Estadual da Paraíba, Paraíba, Brazil.

The hypothalamic-pituitary-adrenal (HPA) axis is an important hormonal mechanism of the human body and is extremely programmable during embryonic and fetal development. Analyzing its development in this period is the key to understanding in fact how vulnerabilities of congenital diseases occur and any other changes in the phenotypic and histophysiological aspects of the fetus. The environment in which the mother is exposed during the gestational period can influence this axis. Read More

Ann Hum Genet 2019 Mar 1. Epub 2019 Mar 1.

The Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Cardio-X Institute, Huazhong University of Science and Technology, Wuhan, China.

Atrial fibrillation (AF) affects 33.5 million individuals worldwide. It accounts for 15% of strokes and increases risk of heart failure and sudden death. Read More

Ann Hum Genet 2019 Mar 1. Epub 2019 Mar 1.

Department of Gynaecology, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, Jiangxi, China.

Uterine fibroids (UFs) are the most common benign neoplasms, but their pathogenesis is not completely understood. Thus far, alterations in the mitochondrial DNA (mtDNA) content and the mtDNA 4977-bp deletion level in UFs, as well as the corresponding nontumorous tissue, have remained elusive. To test whether large mtDNA deletions and mtDNA content are involved in the pathogenesis of UFs, a total of 309 UF tissues and 28 paired adjacent myometrium from 270 UF patients were enrolled for the analysis of large mtDNA deletions and mtDNA content through the use of nested PCR and qPCR techniques, respectively. Read More

Ann Hum Genet 2019 May 19;83(3):187-191. Epub 2019 Feb 19.

Department of Biological Sciences, BITS Pilani, Hyderabad Campus, Hyderabad, 500078, India.

Copy number variants (CNVs) of 15q11.2 yielded conflicting reports on their association with schizophrenia (SZ), indicating the need for replication studies. Because there are no 15q11. Read More

Ann Hum Genet 2019 Feb 15. Epub 2019 Feb 15.

Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.

Genomic regions of homozygosity (ROH), detectable in outbred populations, have been implicated as determinants of inherited risk. To examine whether ROH is associated with risk of multiple myeloma (MM), we performed whole-genome homozygosity analysis using single-nucleotide polymorphism genotype data from 2,282 MM cases and 5,197 controls, with replication in an additional 878 MM cases and 7,083 controls. Globally, the distribution of ROH between cases and controls was not significantly different. Read More

Ann Hum Genet 2019 May 7;83(3):160-170. Epub 2019 Feb 7.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.

Multiple osteochondromas (MOs) or hereditary multiple exostoses is a rare autosomal-dominant disease characterized by growths of MOs, which are benign cartilage-capped bone tumors that grow away from the growth plates. Almost 90% of MOs have a molecular explanation and 10% are unexplained. MOs are genetically heterogeneous with two causal genes on 8q24. Read More

Ann Hum Genet 2019 May 7;83(3):177-186. Epub 2019 Feb 7.

Department of Clinical Immunology, School of Medicine, Ankara University, Ankara, Turkey.

Background: Behçet's disease (BD) is an inflammatory disorder characterized by oral aphthous lesions, uveitis, and genital ulcerations. The vitamin D receptor (VDR) has a crucial role in the pathogenesis of this disease because it mediates the functions of vitamin D in the immune system. Alterations of VDR expression related to polymorphic alleles of the VDR gene may play a pathogenic role in BD and BD's clinical presentations. Read More

Ann Hum Genet 2019 May 4;83(3):171-176. Epub 2019 Feb 4.

Division of Physiology, Department of Medicine, University of California, San Diego, La Jolla, California.

EGLN1 encodes the hypoxia-inducible factor (HIF) pathway prolyl hydroxylase 2 (PHD2) that serves as an oxygen-sensitive regulator of HIF activity. The EGLN1 locus exhibits a signature of positive selection in Tibetan and Andean populations and is associated with hemoglobin concentration in Tibetans. Recent reports provide evidence for functional roles of protein-coding variants within the first exon of EGLN1 (rs186996510, rs12097901) that are linked to an adaptive signal in Tibetans, yet whether these same variants are present and contribute to adaptation in Andean highlanders is unknown. Read More

Ann Hum Genet 2019 Jan 30. Epub 2019 Jan 30.

Fundação Oswaldo Cruz, Centro de Pesquisas Gonçalo Moniz - Fiocruz/BA, 40296710, Salvador, Bahia, Brazil.

Sickle cell anemia is one of the most prevalent genetic diseases worldwide, showing great clinical heterogeneity. This study compared the gene expression patterns between sickle cell anemia pediatric patients in steady state and in crisis state, as compared to age-paired, healthy individuals. RNA sequencing was performed from these groups of patients/controls using Illumina HiSeq 2500 equipment. Read More

Ann Hum Genet 2019 May 15;83(3):141-159. Epub 2019 Jan 15.

Departmento de Lenguajes y Sistemas Informáticos, Higher Technical School of Computer Engineering, University of Seville, Seville, Spain.

Background And Objective: The major difficulty of the analysis of the input gene expression data in a microarray-based approach for an automated diagnosis of cancer is the large number of genes (high dimensionality) with many irrelevant genes (noise) compared to the very small number of samples. This research study tackles the dimensionality reduction challenge in this area.

Methods: This research study introduces a dimension-reduction technique termed graph coloring approach (GCA) for microarray data-based cancer classification based on analyzing the absolute correlation between gene-gene pairs and partitioning genes into several hubs using graph coloring. Read More

Ann Hum Genet 2019 Mar 22;83(2):82-85. Epub 2018 Nov 22.

Molecular Biology Laboratory, Faculty of Health Sciences, American University of Science and Technology, Beirut, Lebanon.

Population representative short tandem repeat (STR) allele frequencies are crucial for proper probabilistic interpretation of DNA forensic evidence. STR allele frequencies also provide information about the genetic diversity of a given population. The Lebanese population is characterized by the presence of more than 18 religious communities that have high recorded rates of endogamous and consanguineous marriages, where the choice of marriages is mainly influenced by their respective geographical distributions and religious affiliation. Read More

Ann Hum Genet 2019 May 2;83(3):124-133. Epub 2018 Dec 2.

Department of Gastroenterology, Rizhao People's Hospital of Shandong Province, Rizhao, 276800, China.

Objective: To investigate the correlation of tumor necrosis factor α (TNF-α) polymorphisms with upper gastrointestinal bleeding (UGIB) induced by enteric-coated aspirin in coronary heart disease (CHD) patients.

Methods: In total, 154 CHD patients taking enteric-coated aspirin were enrolled in this study. Patients were divided into the UGIB group (n = 57) and non-UGIB group (n = 97) based on the presence or absence of signs of UGIB, respectively. Read More

Ann Hum Genet 2019 May 2;83(3):134-140. Epub 2018 Dec 2.

School of Forensic Medicine, China Medical University, Shenyang, 110122, China.

Background: China harbors 56 ethnic groups, including Korean, with a population size of approximately 1.92 million at the 2010 census. Most of the Koreans live in Northeastern parts of China, including Jilin (59. Read More

Ann Hum Genet 2019 Mar 6;83(2):86-94. Epub 2018 Nov 6.

Laboratorio de Investigación en Genética de Enfermedades Complejas, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, Spain.

Autoimmune diseases like celiac disease (CeD) and ulcerative colitis (UC) show a common genetic background defined by the existence of shared susceptibility loci. We aimed to go deeper into this common genetic background through performing a cross-disease study based on gene expression. We measured the expression of 21 genes located in 13 CeD-UC susceptibility regions, and 10 genes in five CeD risk regions. Read More

Ann Hum Genet 2019 May 6;83(3):115-123. Epub 2018 Nov 6.

Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.

The child with global developmental delay (GDD)/intellectual disability (ID) is deserving of the appropriate evaluation available for improving the health and well-being of patients and their families. To better elucidate the diagnostic approach of genetic tests for patients with GDD and/or ID, we evaluated the results in a cohort of 75 patients with clinical features of GDD and/or ID who were referred for diagnostic workup. A total of 75 children were investigated for GDD or ID in the pediatric neurology department. Read More

Ann Hum Genet 2019 Mar 10;83(2):110-114. Epub 2018 Oct 10.

Laboratory of Immunogenetics, Department of Basic Health Sciences, Maringa State University (UEM), Parana, Brazil.

We evaluated the influence of the IL8 T-738A (nonidentified rs), IL8 T-353A (rs4073), IL17A G197A (rs2275913), and IL17F T7488C (rs763780) single-nucleotide polymorphisms on leprosy. The AA genotype of IL8 T-353A was observed as a risk factor for multibacillary leprosy, regardless of gender and age-of-onset of disease, considering the recessive model (OR, 3.8; 95% CI, 1. Read More

Ann Hum Genet 2019 Mar 10;83(2):100-109. Epub 2018 Oct 10.

Medical Genetics Department, Bambino Gesù Children's Hospital, Rome, Italy.

Cornelia de Lange syndrome (CdLS) is a genetically and clinical heterogeneous condition characterized by congenital malformation, intellectual disability, and peculiar dysmorphic features. Recently, BRD4 (19p13.12) was proposed as a new critical gene associated with a mild CdLS because of a similar presentation of the patients carrying point mutations and of its involvement in the NIPBL pathway. Read More

Ann Hum Genet 2019 Mar 2;83(2):95-99. Epub 2018 Oct 2.

Department of Cell Biology, School of Life Sciences, Central South University, Changsha, China.

Dilated cardiomyopathy (DCM) is a relatively frequent myocardial disease that may lead to heart failure, syncope, and sudden cardiac death. Genetic factors play important roles in the etiology of the disease. To date, at least 50 genes have been identified in patients with DCM, among them, only three mutations have been reported in Synemin (SYNM) gene. Read More

Ann Hum Genet 2019 Jan 27;83(1):11-22. Epub 2018 Sep 27.

Research Department of Genetics, Evolution and Environment, University College London, Darwin Building, Gower Street, London, WC1E 6BT, United Kingdom.

The genetic trait of lactase persistence (LP) evolved as an adaptation to milking pastoralism in the Old World and is a well-known example of positive natural selection in humans. However, the specific mechanisms conferring this selective advantage are unknown. To understand the relationship between milk drinking, LP, growth, reproduction, and survival, communities of the Coquimbo Region in Chile, with recent adoption of milking agropastoralism, were used as a model population. Read More

Ann Hum Genet 2019 Jan 7;83(1):54-62. Epub 2018 Sep 7.

Department of Clinical Biological Resource Bank, Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.

Kawasaki disease (KD) is an acute systemic vasculitis that is most seriously complicated by coronary artery aneurysm (CAA). The polymorphisms of platelet endothelial aggregation receptor 1 (PEAR1), notably rs12041331 and rs12566888, were found to be closely related to cardiac disease. However, little is known regarding the connection between PEAR1 and KD. Read More

Ann Hum Genet 2019 Mar 24;83(2):73-81. Epub 2018 Sep 24.

Laboratory of Prenatal Diagnostics of Inherited Diseases, D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Saint-Petersburg, Russia.

Methylation profiles of CpG islands within the SLC23A2, CDK2AP1, and DYNC1H1 genes and their association with spinal muscular atrophy (SMA) severity were studied. High clinical heterogeneity of SMA suggests the existence of different factors modifying SMA phenotype with gene methylation as a plausible one. The genes picked up in our earlier genome-wide methylation studies of SMA patients demonstrated obvious differences in their methylation patterns, thus suggesting the likely involvement of their protein products in SMA development. Read More

Ann Hum Genet 2019 Jan 11;83(1):34-45. Epub 2018 Sep 11.

Department of Clinical Chemistry, Fimlab Laboratories, and Finnish Cardiovascular Research Center - Tampere, Faculty of Medicine and Life Sciences, University of Tampere, Tampere, Finland.

Upstream transcription factor 1 (USF1) regulates the transcription of many genes related to cell and organism survival processes such as stress and immune response, regulation of cellular senesce, and carcinogenesis. In this study, our aim was to investigate the effect of USF1 single nucleotide variations (SNVs) on longevity in the Vitality 90+ study, a population-based study of nonagenarians (90 ±1 years of age) living in the area of Tampere municipality, Finland. Altogether 509 voluntary nonagenarians (115 males, 394 females) were genotyped using the 5'-nuclease assay for rs2774279G > A, rs2516839T > C, and rs2073658C > T SNVs. Read More

Ann Hum Genet 2019 Jan 7;83(1):46-53. Epub 2018 Sep 7.

School of Forensic Medicine, China Medical University, Shenyang, P.R. China.

The genetic polymorphisms of 15 autosomal short tandem repeat (STR) loci were analyzed in 449 individuals of the Uygur population from Ili Kazakh Autonomous Prefecture, Northwestern China. Phylogenetic analysis was performed among the Ili Uygur population and other relevant populations. The neighbor-joining tree and multidimensional scaling plot were generated based on the Nei's standard genetic distance. Read More

Ann Hum Genet 2019 Jan 7;83(1):63-72. Epub 2018 Sep 7.

Biology Department, University Autónoma of Madrid, Madrid, Spain.

Purpose: Although oxidative stress is thought to be an important cause of male infertility, primarily due to DNA and cell membrane damage, little is known about the genetic causes underlying suboptimal function of the seminal enzymatic antioxidant system. The aim of this study was to investigate the relationship of four potentially functional polymorphisms associated with oxidative stress pathway genes (superoxide dismutase-SOD2 lle58Thr and SOD2 rs4880, catalase-CAT C-262T, glutathione peroxidase 1-GPX1 Pro200Leu) and two null variants of the glutathione S transferase (GSTT and GSTM) genes and infertility risk.

Methods: A case control study was conducted on 313 infertile patients and 80 fertile donors. Read More

Ann Hum Genet 2019 Jan 3;83(1):23-33. Epub 2018 Sep 3.

School of Biotechnology, Dublin City University, Dublin, Ireland.

Scope: The aim of this study was to identify if specific regions of the human genome were sensitive to folate status by displaying changes in their DNA methylation patterns in response to continued folic acid supplementation during pregnancy.

Methods And Results: Samples (n = 119) from a previous randomised controlled trial in pregnancy were used to compare the DNA methylation profiles of the same woman pre- versus post-folic acid intervention. Candidate genes were identified from the literature and a pilot genome wide screen of six women (three from each of the folic acid and placebo arms of the trial). Read More

Ann Hum Genet 2019 Jan 3;83(1):1-10. Epub 2018 Sep 3.

Cellular and Molecular Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran.

Hearing loss (HL) is the most common birth defect and the most prevalent sensorineural condition worldwide. It is associated with more than 1,000 mutations in at least 90 genes. Mutations of the gap junction beta-2 protein (GJB2) gene located in the nonsyndromic hearing loss and deafness (DFNB1) locus (chromosome 13q11-12) are the main causes of autosomal recessive nonsyndromic hearing loss worldwide, but important differences exist between various populations. Read More

Ann Hum Genet 2018 Nov 29;82(6):482-487. Epub 2018 Aug 29.

Department of Paediatrics, Tongji Hospital, Tongji Medical School, Huazhong University of Science and Technology, Wuhan, Hubei, China.

Single-nucleotide polymorphism (SNP) arrays have been widely used to identify novel genomic imbalances. Many of these genomic imbalances have been confirmed to interact with developmental delays, intellectual disabilities (IDs), and congenital defects. Here, we identify a Chinese girl with a 3. Read More

Ann Hum Genet 2018 Nov 29;82(6):469-476. Epub 2018 Aug 29.

Departement of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

Williams-Beuren syndrome (WBS) is a chromosomal microdeletion syndrome with variable phenotypic features such as supravalvular aortic stenosis (SVAS), facial appearance characteristics, growth retardation, and infantile hypercalcemia. This study aimed to detect the 7q11.23 microdeletion in 10 patients with early clinical diagnosis of WBS using fluorescent in situ hybridization or array comparative genomic hybridization. Read More

Ann Hum Genet 2018 Nov 22;82(6):370-381. Epub 2018 Aug 22.

China Medical University Hospital of Boshan District, Zibo City, Shandong, 255200, People's Republic of China.

Background: We are interested in comprehensively evaluating the potential genetic influence of rs9332978 A/G, rs1126742 T/C, and rs9333025 G/A polymorphisms of CYP4A11 (cytochrome P450 family 4, subfamily A, member 11) in the risk of developing cardiovascular and cerebrovascular diseases.

Methods: A meta-analysis was carried out using articles obtained from online databases and Stata/SE 12.0 software. Read More

Ann Hum Genet 2018 Nov 5;82(6):457-468. Epub 2018 Aug 5.

Laboratory of Molecular and Functional Genetics, Faculty of Sciences, University of Sfax, Tunisia.

The multiple drug resistance 3 (MDR3) protein is a canalicular phospholipid translocator involved in the bile secretion and encoded by the ABCB4 gene. Its deficiency is related to a large spectrum of liver diseases. Taking into account the increased evidence about the involvement of synonymous variants in inherited diseases, this study aims to explore the putative effects of silent genetic variants on the ABCB4 expression. Read More

Ann Hum Genet 2018 Nov 24;82(6):448-456. Epub 2018 Jul 24.

UGC Centre of Excellence in Nano Applications, UIPS building, Panjab University, Chandigarh, India.

Genetic polymorphisms in glutathione S-transferase (GST) genes may modulate the risk of cardiovascular diseases. The objective of present study was to investigate the potential association between the polymorphisms of GSTM1/T1 and P1 genes and their influence on diverse clinical parameters and oxidative stress biomarkers in coronary artery disease (CAD) patients in Asian Indians. The present study includes 562 angiographically confirmed CAD patients and 564 healthy control subjects from the north Indian population. Read More

Ann Hum Genet 2018 Sep 24;82(5):304-308. Epub 2018 Jul 24.

Noor Genetics Lab, Ahvaz, Iran.

Cockayne syndrome (CS) is one the rare DNA-repair deficiency disorders with autosomal recessive inheritance. Failure to thrive and microcephaly are the major criteria of diagnosis. Owing to genetic heterogeneity of CS, whole exome sequencing is promising way to determine the genetic basis of the disease. Read More

Ann Hum Genet 2018 Nov 24;82(6):477-481. Epub 2018 Jul 24.

Growth and development Service, Garrahan Pediatric Hospital, Buenos Aires, Argentina.

Osteogenesis imperfecta (OI) is the most common skeletal dysplasia, which predisposes to recurrent fractures and bone deformity and presents with wide clinical variability. More than 80% of OI cases are related to dominantly inherited mutations in COL1A1 or COL1A2. The rest of the cases, however, involve many other noncollagen genes, all of which are autosomal-recessively inherited, except for IFITM5 and WNT1, which are also associated with autosomal dominant OI. Read More

Ann Hum Genet 2018 Nov 24;82(6):382-388. Epub 2018 Jul 24.

Shiraz Endocrinology and Metabolism Research Center, Nemazee Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.

Wnt signaling/LRP6 plays a critical role in metabolic syndrome and atherosclerosis, and variation in this pathway may lead to hyperlipidemia, nonalcoholic fatty liver disease, and coronary artery disease. In the present study, we investigated the effect of LRP6 rs2302685 (V1062I) on hyperlipidemia in Iranian children and adolescents. The population in this study consisted of 200 children (101 boys, 99 girls) aged 9-18 years old. Read More

Ann Hum Genet 2018 Nov 19;82(6):437-447. Epub 2018 Jul 19.

Department of Molecular Cardiology, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA.

Apolipoprotein A5 (APOA5) regulates the metabolisms of triglyceride and HDL. APOA5 variants have been linked to coronary artery disease (CAD), but their causal roles are not well studied yet. This study aims to identify the causal effects of APOA5 variants on premature CAD. Read More

Ann Hum Genet 2018 Nov 16;82(6):425-436. Epub 2018 Jul 16.

C.G.M Genetaq, Málaga, Spain.

Neurofibromatosis type I (NF1) is one of the most common genetic disorders in humans. NF1, a tumor predisposition syndrome, is caused by heterozygous pathogenic variants in the NF1 gene. Molecular genetic testing of NF1 is complex, especially because of the presence of a high number of partial pseudogenes, some of them with a high percentage of sequence identity. Read More

Ann Hum Genet 2018 Nov 16;82(6):331-357. Epub 2018 Jul 16.

Adjunct Faculty, Department of Periodontology and Implant Dentistry, New York University College of Dentistry, New York.

Modern genetic therapy incorporates genomic testing and genome editing. It is the finest approach for precision medicine. Genome editing is a state-of-the-art technology to manipulate gene expression thus generating a particular genotype. Read More