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Allele frequencies and minor contributor match statistic convergence using simulated population replicates
Probabilistic genoty** permits a comparison of forensic evidence given hypotheses regarding the origin of observed short tandem repeat alleles in a...
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The Genetic Factors Influencing Cardiomyopathies and Heart Failure across the Allele Frequency Spectrum
Heart failure (HF) remains a major cause of mortality and morbidity worldwide. Understanding the genetic basis of HF allows for the development of...
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Engineered allele substitution at PPARGC1A rs8192678 alters human white adipocyte differentiation, lipogenesis, and PGC-1α content and turnover
Aims/hypothesisPPARGC1A encodes peroxisome proliferator-activated receptor γ coactivator 1-α (PGC-1α), a central regulator of energy metabolism and...
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Transition of allele-specific DNA hydroxymethylation at regulatory loci is associated with phenotypic variation in monozygotic twins discordant for psychiatric disorders
BackgroundMajor psychiatric disorders such as schizophrenia (SCZ) and bipolar disorder (BPD) are complex genetic mental illnesses. Their...
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Genetic abnormality of cytochrome-P2C9*3 allele predisposes to epilepsy and phenytoin-induced adverse drug reactions: genoty** findings of cytochrome-alleles in the North Indian population
BackgroundThis research aims to study the association of genetic polymorphism in genes coding for CYP2C9 and CYP2C19 in phenytoin-induced...
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Low-frequency and rare genetic variants associated with rheumatoid arthritis risk
Rheumatoid arthritis (RA) has an estimated heritability of nearly 50%, which is particularly high in seropositive RA. HLA alleles account for a large...
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Allele-specific analysis reveals exon- and cell-type-specific regulatory effects of Alzheimer’s disease-associated genetic variants
Elucidating regulatory effects of Alzheimer’s disease (AD)-associated genetic variants is critical for unraveling their causal pathways and...
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GWAS significance thresholds for deep phenoty** studies can depend upon minor allele frequencies and sample size
An important issue affecting genome-wide association studies with deep phenoty** (multiple correlated phenotypes) is determining the suitable...
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The CREBRF diabetes-protective rs373863828-A allele is associated with enhanced early insulin release in men of Māori and Pacific ancestry
Aims/hypothesisThe minor A allele of rs373863828 ( CREBRF p.Arg457Gln) is associated with increased BMI, but reduced risk of type 2 and gestational...
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Carrier frequency and incidence of aromatic L-amino acid decarboxylase deficiency: a gnomAD-based study
BackgroundAromatic L-amino acid decarboxylase (AADC) deficiency is an autosomal recessive neurotransmitter metabolism disorder and is clinically...
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Human leukocyte antigen (HLA) haplotype matching in unrelated single HLA allele mismatch bone marrow transplantation
The role of matching human leukocyte antigen (HLA) haplotypes in unrelated allogeneic bone marrow transplantation (allo-BMT) remains unclear. Here,...
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BCL-W makes only minor contributions to MYC-driven lymphoma development
The BH3-mimetic drug Venetoclax, a specific inhibitor of anti-apoptotic BCL-2, has had clinical success for the treatment of chronic lymphocytic...
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Differential Association of FTO Gene variants and Haplotypes with the Susceptibility to Polycystic Ovary Syndrome According To Obesity in Women with PCOS
We explored the relation between FTO single gene variants (rs1861868, rs9939973, rs1421085, rs1121980, rs17817449, rs8050136, rs9939609, rs9930506,...
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Mutant CYP3A4/5 Correlated with Clinical Outcomes by Affecting Rivaroxaban Pharmacokinetics and Pharmacodynamics in Patients with Atrial Fibrillation
PurposeThis study was designed to investigate the impact of single-nucleotide polymorphism-encoded cytochrome P450 enzymes (CYP3A4/5) on clinical...
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Apolipoprotein A5 gene polymorphism (rs662799) and cardiovascular disease in end-stage kidney disease patients
BackgroundPlasma triglyceride (TG) levels are a significant risk factor for cardiovascular disease (CVD). The APOA5 gene is one of the crucial...
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Association of single nucleotide polymorphism at BMP2 gene with iron deficiency status among anaemic patients in Hospital Universiti Sains Malaysia
BackgroundIron deficiency contributes for over half of all anaemia cases, especially among women and children. Iron deficiency anaemia remains a...
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Haplotype analysis on association between C-reactive protein gene and susceptibility to type 2 diabetes mellitus in Chinese Han population
AimsWe aimed to evaluate the impact of C-reactive protein (CRP) gene polymorphism, additional gene–gene interaction, and haplotypes on susceptibility...
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FOXA1 of regulatory variant associated with risk of breast cancer through allele-specific enhancer in the Chinese population
BackgroundFOXA1 is a pioneer transcription factor which has been established as a carcinogenic factor and can regulate the expression of downstream...
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The interaction between MC4R gene variant (rs17782313) and dominant dietary patterns on depression in obese and overweight women: a cross sectional study
BackgroundPrevious studies have shown that the minor allele (C allele) for melanocortin 4 receptor (MC4R) rs17782313 may be associated with depressed...
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Increasing prevalence of gestational diabetes mellitus when carrying the T variant allele of the MTHFR gene C677T polymorphism: a systematic review and meta-analysis
PurposePrevious epidemiological data linking the C677T and A1298C MTHFR polymorphisms to gestational diabetes risk have been mixed and...
