rs1062070 - RNF5

Magnitude 2.0 · 4 studies on file

Reported associations

• Genotype-by-environment interactions inferred from genetic effects on phenotypic variability in the UK Biobank - Unknown journal (n.d.) · Unknown authors · PubMed 31453325

  ABSTRACT: We show that genotype-by-environment interaction can be inferred from an analysis without environmental data in a large sample. Genotype-by-environment interaction (GEI) is a fundamental component in understanding complex trait variation. However, it remains challenging to identify genetic variants with GEI effects in humans largely because of the small effect sizes and the difficulty of monitoring environmental fluctuations. Here, we demonstrate that GEI can be inferred from genetic variants associated with phenotypic variability in a large sample without the need of measuring environmental factors. We performed a genome-wide variance quantitative trait locus (vQTL) analysis of ~5.6 million variants on 348,501 unrelated individuals of European ancestry for 13 quantitative traits

• Whole Exome Sequencing Revealed Variants That Predict Pulmonary Artery Involvement in Patients with Takayasu Arteritis - Unknown journal (n.d.) · Unknown authors · PubMed 36046661

  ABSTRACT: Purpose To conduct the first whole exome sequencing (WES) on Takayasu arteritis (TAK) to identify common and rare variants responsible for disease susceptibility. Patients and Methods A total of 200 patients and 1675 healthy controls from China were recruited for this study. Site-based association analysis for common variants and gene-based burden analysis for rare variants were conducted. A weighted genetic risk score (wGRS) was calculated for each patient with TAK based on the independent risk alleles identified in the association analyses. The ability of the patient wGRS to discriminate between different phenotypes was evaluated. Results In the site-based analysis, the top association signal was CCHCR1 (rs1265067, p = 8.27 × 10−12, OR = 2.41), a proxy for HLA-B*52:01. HLA-D

• Genome-wide association meta-analysis identifies two novel loci associated with dental caries - Unknown journal (n.d.) · Unknown authors · PubMed 39192244

  ABSTRACT: Background Tooth loss significantly impacts oral function and overall health deterioration. Dental caries and periodontal disease are major contributors to tooth loss, emphasizing the critical need to prevent these conditions. Genetic studies have played a crucial role in deepening our understanding of the underlying mechanisms of these diseases. While large-scale genome-wide association studies (GWAS) on dental caries and periodontal disease have been conducted extensively, research focusing on Asian populations remains limited. Given substantial genetic and lifestyle variations across ethnicities, conducting studies across diverse populations is imperative. This study aimed to uncover new insights into the genetic mechanisms of these diseases, contributing to broader knowledge

• New role of fat-free mass in cancer risk linked with genetic predisposition - Unknown journal (n.d.) · Unknown authors · PubMed 38538606

  ABSTRACT: Cancer risk is associated with the widely debated measure body mass index (BMI). Fat mass and fat-free mass measurements from bioelectrical impedance may further clarify this association. The UK Biobank is a rare resource in which bioelectrical impedance and BMI data was collected on ~ 500,000 individuals. Using this dataset, a comprehensive analysis using regression, principal component and genome-wide genetic association, provided multiple levels of evidence that increasing whole body fat (WBFM) and fat-free mass (WBFFM) are both associated with increased post-menopausal breast cancer risk, and colorectal cancer risk in men. WBFM was inversely associated with prostate cancer. We also identified rs615029[T] and rs1485995[G] as associated in independent analyses with both PMB

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