1,628 results match your criteria deletion genotyped


Removing data and using metafounders alleviates biases for all traits in Lacaune dairy sheep predictions.

J Dairy Sci 2022 Jan 12. Epub 2022 Jan 12.

INRA, GenPhySE, Castanet-Tolosan 31320, France. Electronic address:

Bias in dairy genetic evaluations, when it exists, has to be understood and properly addressed. The origin of biases is not always clear. We analyzed 40 yr of records from the Lacaune dairy sheep breeding program to evaluate the extent of bias, assess possible corrections, and emit hypotheses on its origin. Read More

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January 2022

Functional evaluation of immunoregulatory molecules HLA-G, galectin-1, and IL-10 in people living with HIV.

Medicine (Baltimore) 2022 Jan;101(2):e28489

Department of Pharmaceutical Sciences, Federal University of Espírito Santo, Vitória, Espírito Santo, Brazil.

Objectives: Investigate polymorphisms and expressions of human leukocyte antigen-G (HLA-G), galectin-1 (Gal-1), and interleukin-10 (IL-10) in people living with HIV (PLHIV) with and without comorbidities to help understanding the mechanisms involved in triggering these disorders in PLHIV and in their prognosis.

Design: Here we evaluated the potential correlation between the genetic polymorphism and/or protein levels of HLA-G, Gal-1, and IL-10 with and without comorbidities of PLHIV.

Methods: Two hundred HIV patients under antiretroviral treatment (83 with comorbidities and 117 without comorbidities) and 200 healthy individuals (controls) were genotyped, using PCR, for HLA-G 14-base pair polymorphism located at the 3' untranslated region in exon 8 insertion/insertion (Ins/Ins: low HLA-G expression) or deletion/deletion (Del/Del: high HLA-G expression). Read More

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January 2022

Genomic regions associated with virulence in Setosphaeria turcica identified by linkage mapping in a biparental population.

Fungal Genet Biol 2021 Dec 23;159:103655. Epub 2021 Dec 23.

Department of Crop Sciences, University of Illinois at Urbana-Champaign, Urbana, IL 61801, USA. Electronic address:

Northern corn leaf blight (NCLB) and sorghum leaf blight (SLB) are significant diseases of maize and sorghum, respectively, caused by the filamentous fungus Setosphaeria turcica. Strains of S. turcica are typically host-specific and infect either maize or sorghum. Read More

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December 2021

Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?

Genes (Basel) 2021 Nov 29;12(12). Epub 2021 Nov 29.

Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.

The aim of this study was to describe the ocular phenotype in a case with Kearns-Sayre syndrome (KSS) spectrum and to determine if corneal endothelial cell dysfunction could be attributed to other known distinct genetic causes. Herein, genomic DNA was extracted from blood and exome sequencing was performed. Non-coding gene regions implicated in corneal endothelial dystrophies were screened by Sanger sequencing. Read More

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November 2021

Genetic Variant of PP2A Subunit Gene Confers an Increased Risk of Primary Liver Cancer in Chinese.

Pharmgenomics Pers Med 2021 1;14:1565-1574. Epub 2021 Dec 1.

Department of Environmental Health, School of Public Health, Guangxi Medical University, Nanning, 530021, People's Republic of China.

Background: Protein phosphatase 2A (PP2A, a serine/threonine phosphatase) is frequently inactivated in many types of cancer, including primary liver cancer (PLC). Genetic variations in PP2A subunits have been reported to be associated with the risk of many types of cancer but rarely in PLC. This study aims to assess the association between functional polymorphisms of PP2A subunit genes and the risk of PLC in Chinese. Read More

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December 2021

Novel InDel variations of the Cry2 gene are associated with litter size in Australian White sheep.

Theriogenology 2022 Feb 29;179:155-161. Epub 2021 Nov 29.

College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, 712100, PR China. Electronic address:

Cryptochrome 2 (Cry2) gene regulates circadian rhythm and affects reproduction and pregnancy. Therefore, this study aimed to explore polymorphisms of the Cry2 gene and their associations with litter size at different parity in Australian White (AuW) ewes. Five putative insertion or deletion mutations within the Cry2 gene were selected to study their association with litter size. Read More

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February 2022

Impact of the APOBEC3A/B deletion polymorphism on risk of ovarian cancer.

Sci Rep 2021 12 6;11(1):23463. Epub 2021 Dec 6.

K.G. Jebsen Center for Genome-Directed Cancer Therapy, Department of Clinical Science, University of Bergen, 5021, Bergen, Norway.

A germline 29.5-kb deletion variant removes the 3' end of the APOBEC3A gene and a large part of APOBEC3B, creating a hybrid gene that has been linked to increased APOBEC3 activity and DNA damage in human cancers. We genotyped the APOBEC3A/B deletion in hospital-based samples of 1398 Norwegian epithelial ovarian cancer patients without detected BRCA1/2 germline mutations and compared to 1,918 healthy female controls, to assess the potential cancer risk associated with the deletion. Read More

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December 2021

Genetic variants within the gene are associated with ligament injuries in physically active populations from Australia, South Africa, and Japan.

Eur J Sport Sci 2021 Dec 30:1-10. Epub 2021 Dec 30.

Institute for Health and Sport (iHeS), Victoria University, Melbourne, Australia.

Previous small-scale studies have shown an association between the gene and anterior cruciate ligament (ACL) injury risk. In this larger study, the genotype and allele frequency distributions of the rs12722 C/T and rs10628678 AGGG/deletion (AGGG/-) indel variants were compared between participants: (i) with ACL injury in independent and combined cohorts from South-Africa (SA) and Australia (AUS) vs controls (CON), and (ii) with any ligament (ALL) or only ACL injury in a Japanese (JPN) cohort vs CON. Samples were collected from SA (235 cases; 232 controls), AUS (362 cases; 80 controls) and JPN (500 cases; 1,403 controls). Read More

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December 2021

Association of a common genetic variant (insertion/deletion) in ACE gene with prostate cancer susceptibility in a Tunisian population.

J Clin Lab Anal 2022 Jan 19;36(1):e24129. Epub 2021 Nov 19.

Laboratory of Protein Engineering and Bio-active Molecules, National Institute of Applied Science and Technology - University of Carthage, Tunis, Tunisia.

Background: Angiotensin-converting enzyme (ACE) plays a pivotal role in several pathologies including cancers. The association of insertion/deletion (I/D) polymorphism of the ACE gene with prostate cancer (PC) risk remains controversial. We aimed to investigate for the first time, to our Knowledge, in North Africa the potential relationship between ACE I/D polymorphism with PC susceptibility and clinical outcomes of PC patients. Read More

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January 2022

IRF2BP2 3'UTR Polymorphism Increases Coronary Artery Calcification in Men.

Front Cardiovasc Med 2021 25;8:687645. Epub 2021 Oct 25.

Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, ON, Canada.

Interferon regulatory factor 2 binding protein 2 (IRF2BP2) suppresses the innate inflammatory response of macrophages. A 9-nucleotide deletion (rs3045215) in the 3' untranslated region (3'-UTR) of human IRF2BP2 mRNA confers risk of coronary artery disease (CAD) in the Ottawa Heart Genomics Study (OHGS). Here, we sought to identify regulatory mechanisms that may contribute to this risk. Read More

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October 2021

Detection of deletion/insertion polymorphism profiles from single human hair shafts.

Mol Biol Rep 2021 Nov 5. Epub 2021 Nov 5.

Division of Legal Medicine, Department of Social Medicine, Nihon University School of Medicine, Tokyo, 1738610, Japan.

Background: Hair is a frequently encountered biological evidence in personal identification. The amount of nuclear DNA that can be extracted from a single strand of rootless hair is most limited, making the detection of short tandem repeat (STR) polymorphisms difficult. To overcome these limitations, deletion/insertion polymorphisms (DIP) as a new type of genetic marker have shown their benefits in detecting low-copy-number DNA. Read More

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November 2021

Mapping Blast Resistance Genes in Rice Varieties 'Minghui 63' and 'M-202'.

Plant Dis 2021 Nov 5. Epub 2021 Nov 5.

Texas A&M AgriLife Research Center, at Beaumont , 1509 Aggie Dr., Beaumont, Texas, United States, 77713-9185;

Rice blast disease caused by the fungus Magnaporthe oryzae (syn. M. grisea) is one of the most lethal diseases for sustainable rice production worldwide. Read More

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November 2021

and rs156697 Polymorphism in Influence the Risk and Therapeutic Outcome of B-Acute Lymphoblastic Leukemia Patients.

Front Oncol 2021 14;11:714421. Epub 2021 Oct 14.

Advanced Centre for Human Genetics, SKIMS, Srinagar, India.

Introduction: Glutathione S-transferase (GST) gene deletion or polymorphic sequence variations lead to decreased enzyme activity that influences susceptibility and response to chemotherapy in acute lymphoblastic leukemia (ALL). This case-control study investigated the association of GST gene polymorphisms with the etiology and therapeutic outcome of B-ALL among Kashmiri population.

Methods: A total of 300 individuals including 150 newly diagnosed B-ALL patients and an equal number of age and gender matched controls were genotyped for five GST gene polymorphisms by polymerase chain reaction-restriction fragment length polymorphism technique (PCR-RFLP) and multiplex PCR techniques. Read More

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October 2021

Genomic characteristics of Listeria monocytogenes isolated during mushroom (Agaricus bisporus) production and processing.

Int J Food Microbiol 2021 Dec 14;360:109438. Epub 2021 Oct 14.

Food Microbiology, Wageningen University, Bornse Weilanden 9, 6708 WG Wageningen, the Netherlands. Electronic address:

Listeria monocytogenes is a foodborne pathogen ubiquitously found in nature and which has been isolated from food and food processing environments. This study aimed to characterize L. monocytogenes strains isolated from the production and processing environments of frozen sliced mushrooms (Agaricus bisporus). Read More

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December 2021

Associations between age of menarche and genetic variation in women of African descent: genome-wide association study and polygenic score analysis.

J Epidemiol Community Health 2021 Oct 27. Epub 2021 Oct 27.

Department of Public Health Sciences, University of Chicago, Chicago, Illinois, USA

Introduction: Many diseases of adulthood are associated with a woman's age at menarche. Genetic variation affects age at menarche, but it remains unclear whether in women of African ancestry the timing of menarche is regulated by genetic variants that were identified in predominantly European and East Asian populations.

Methods: We explored the genetic architecture of age at menarche in 3145 women of African ancestry who live in the USA, Barbados and Nigeria. Read More

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October 2021

Molecular Epidemiology of Mycobacterium tuberculosis strains isolated from pulmonary tuberculosis patients in south Ethiopia.

J Infect Dev Ctries 2021 09 30;15(9):1299-1307. Epub 2021 Sep 30.

Armauer Hansen Research Institute, Addis Ababa, Ethiopia.

Introduction: Understanding the epidemiology of tuberculosis is limited by lack of genotyping data. We sought to characterize the drug susceptibility testing patterns and genetic diversity of M. tuberculosis isolates in southern Ethiopia. Read More

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September 2021

A family study implicates GBE1 in the etiology of autism spectrum disorder.

Hum Mutat 2022 01 21;43(1):16-29. Epub 2021 Oct 21.

Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.

Autism spectrum disorders (ASD) are neurodevelopmental disorders with an estimated heritability of >60%. Family-based genetic studies of ASD have generally focused on multiple small kindreds, searching for de novo variants of major effect. We hypothesized that molecular genetic analysis of large multiplex families would enable the identification of variants of milder effects. Read More

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January 2022

Genome-wide Association Study of Lipid Traits in Youth With Type 2 Diabetes.

J Endocr Soc 2021 Nov 18;5(11):bvab139. Epub 2021 Aug 18.

Division of Pediatric Endocrinology, University of California at San Francisco, San Francisco, CA, USA.

Context: Dyslipidemia is highly prevalent in youth with type 2 diabetes (T2D), yet the pathogenic components of dyslipidemia in youth with T2D are poorly understood.

Objective: To evaluate the genetic determinants of lipid traits in youth with T2D through a genome-wide association study.

Design Participants And Main Outcome Measures: We genotyped 206 928 variants and imputed 17 642 824 variants in 1076 youth (mean age 15. Read More

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November 2021

A novel 31bp deletion within the gene is significantly associated with growth traits in Dezhou donkey.

Anim Biotechnol 2021 Sep 20:1-5. Epub 2021 Sep 20.

Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A&F University, Xianyang, Shaanxi Province, China.

The discovery of molecular markers which associate with livestock economic traits is of great significance for livestock breeding. Selective analysis has found a potential correlation between and growth traits, but there is still a lack of experimental proof. In this study, a 31-bp deletion (g. Read More

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September 2021

A 104-bp Structural Variation of the Gene Is Associated With Growth Traits in Chickens.

Front Genet 2021 26;12:691272. Epub 2021 Aug 26.

College of Animal Science and Technology, Henan Agricultural University, Zhengzhou, China.

Analyzing marker-assisted breeding is an important method utilized in modern molecular breeding. Recent studies have determined that a large number of molecular markers appear to explain the impact of "lost heritability" on human height. Therefore, it is necessary to locate molecular marker sites in poultry and investigate the possible molecular mechanisms governing their effects. Read More

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Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion.

Clin Orthop Relat Res 2021 Sep 6. Epub 2021 Sep 6.

Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA.

Background: Clubfoot, a congenital deformity that presents as a rigid, inward turning of the foot, affects approximately 1 in 1000 infants and occurs as an isolated birth defect in 80% of patients. Despite its high level of heritability, few causative genes have been identified, and mutations in known genes are only responsible for a small portion of clubfoot heritability.

Questions/purposes: (1) Are any rare gene variants enriched (that is, shared) in unrelated patients with isolated clubfoot? (2) Are there other rare variants in the identified gene (Filamin B) in these patients with clubfoot?

Methods: Whole-exome sequence data were generated from a discovery cohort of 183 unrelated probands with clubfoot and 2492 controls. Read More

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September 2021

Variability of the rs333 in Polish patients with lupus erythematosus.

Postepy Dermatol Alergol 2021 Feb 10;38(2):131-136. Epub 2021 Mar 10.

Department of Forensic Medicine, Ludwik Rydygier Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland.

Introduction: Lupus erythematosus (LE) is an autoimmune disease with a strong influence of genetic and environmental factors. C-C motif chemokine receptor 5 () gene expression may affect the development and intensity of LE.

Aim: To evaluate the possible association between the 32bp deletion in rs333 locus located within the gene and the development of LE or the occurrence of various clinical symptoms in the course of the disease. Read More

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February 2021

Different Roles of Codon 72 Polymorphism in Type 2 Diabetes and Its Complications: Evidence from a Case-Control Study on a Chinese Han Population.

Int J Gen Med 2021 7;14:4259-4268. Epub 2021 Aug 7.

Department of Pathology, The Second Affiliated Hospital of Nanjing Medical University, Nanjing, 210011, People's Republic of China.

Objective: The purpose of this study was to investigate the relationships between (rs1042522) polymorphism and susceptibility to type 2 diabetes (T2DM) and its related complications.

Methods: The polymorphism was genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method in 206 T2DM patients and 446 healthy controls. Mitochondrial DNA (mtDNA) content, mtDNA transcriptional level and large-scale mtDNA deletion were evaluated in leukocytes of T2DM patients using fluorescence-based quantitative PCR (FQ-PCR), reverse transcriptase-quantitative PCR (RT-qPCR) and long-range PCR approaches, respectively. Read More

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Mapping of QTLs controlling epicotyl length in adzuki bean ().

Breed Sci 2021 Apr 7;71(2):208-216. Epub 2021 Apr 7.

Department of Agro-Environmental Science, Obihiro University of Agriculture and Veterinary Medicine, Nishi 2-11 Inada, Obihiro, Hokkaido 080-8555, Japan.

Epicotyl length (ECL) of adzuki bean () affects the efficiency of mechanized weeding and harvest. The present study investigated the genetic factors controlling ECL. An F population derived from a cross between the breeding line 'Tokei1121' (T1121, long epicotyls) and the cultivar 'Erimo167' (common epicotyls) was phenotyped for ECL and genotyped using simple sequence repeats (SSRs) and single-nucleotide polymorphism (SNP) markers. Read More

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Genetic polymorphisms in the renin-angiotensin system and cognitive decline in Parkinson's disease.

Mol Biol Rep 2021 Jul 23;48(7):5541-5548. Epub 2021 Jul 23.

Department of Pharmacokinetics and Therapeutic Drug Monitoring, Pomeranian Medical University, Powstańców Wlkp 72, 70-111, Szczecin, Poland.

Background: Renin-angiotensin system (RAS) influences the central nervous system not only through its peripheral impact-the brain possesses its own local RAS. Studies showed altered RAS components in Parkinson's disease (PD) and their association with oxidative stress which may be linked to neurodegeneration and dementia. Moreover, the protective functions of RAS blockade antagonists against cognitive decline and dementia have been suggested. Read More

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Low Genetic Diversity of Hepatitis B Virus Surface Gene amongst Australian Blood Donors.

Viruses 2021 06 30;13(7). Epub 2021 Jun 30.

Faculty of Health, School of Biomedical Sciences, Queensland University of Technology, Kelvin Grove, QLD 4059, Australia.

Variants in the small surface gene of hepatitis B virus (HBV), which codes for viral surface antigen (HBsAg), can affect the efficacy of HBsAg screening assays and can be associated with occult HBV infection (OBI). This study aimed to characterise the molecular diversity of the HBV small surface gene from HBV-reactive Australian blood donors. HBV isolates from 16 HBsAg-positive Australian blood donors' plasma were sequenced and genotyped by phylogenies of viral coding genes and/or whole genomes. Read More

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A DNA Regulatory Element Haplotype at Zinc Finger Genes Is Associated with Host Resilience to Small Ruminant Lentivirus in Two Sheep Populations.

Animals (Basel) 2021 Jun 26;11(7). Epub 2021 Jun 26.

Animal Disease Research Unit, Agricultural Research Service, United States Department of Agriculture, Pullman, WA 99163, USA.

Small ruminant lentivirus (SRLV) causes Maedi-Visna or Ovine Progressive Pneumonia in sheep and creates insidious livestock production losses. This retrovirus is closely related to human immunodeficiency virus and currently has no vaccines or cure. Genetic marker assisted selection for sheep disease resiliency presents an attractive management solution. Read More

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Effects of polymorphic cytochrome P450 2A6 genotypes on chemoprevention against colorectal tumors in single Japanese cohort using daily low-dose aspirin: insights into future personalized treatments.

J Pharm Health Care Sci 2021 Jul 1;7(1):26. Epub 2021 Jul 1.

Department of Molecular-Targeting Cancer Prevention, Kyoto Prefectural University of Medicine, Sakyo-ku, Kyoto, Japan.

Background: A chemopreventive effect of low-dose aspirin against colorectal tumors was previously found in participants of two Japanese multicenter, double-blind, randomized, placebo-controlled clinical trials investigating the effects of daily aspirin (100 mg/day) for 0.7-2 years on tumor recurrence in colorectal cancer patients whose tumors were excised endoscopically.

Methods: In the current study, chemopreventive data from single-center subsets having daily aspirin (100 mg/day) were reanalyzed with respect to variations in polymorphic cytochrome P450 2A6 (CYP2A6). Read More

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SHANK3 Genotype Mediates Speech and Language Phenotypes in a Nonclinical Population.

Autism Res Treat 2021 3;2021:6634584. Epub 2021 Jun 3.

Department of Biological Sciences, Simon Fraser University, Burnaby, BC, Canada.

Mutations affecting the synaptic-scaffold gene SHANK3 represent the most common genetic causes of autism with intellectual disability, accounting for about 1-2% of cases. Rare variants of this gene have also been associated with schizophrenia, and its deletion results in the autistic condition known as Phelan-McDermid syndrome. Despite the importance of SHANK3 as a paradigmatic gene mediating neurodevelopmental disorders, its psychological effects in nonclinical populations have yet to be studied. Read More

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Evaluating the Association between Polymorphism (rs333) and the Risk of Breast Cancer in a Cohort of Iranian Population.

Iran J Public Health 2021 Mar;50(3):583-591

Department of Medical Genetics & Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mash-had, Iran.

Background: CC chemokine receptor 5 () is introduced as an immune response modulator. The activity of CCR5 influences breast tumour development in a p53-dependent manner. This study aimed to investigate the frequency of and its association with the risk of breast cancer in 1038 blood samples in North East of Iran. Read More

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