rs12404679 - SLC2A1-DT

Magnitude 2.2 · 3 studies on file

Reported associations

• Association between birth weight and refractive error in adulthood: a Mendelian randomisation study. - The British journal of ophthalmology (2020) · Plotnikov D, Williams C, Guggenheim JA · PubMed 31097437

  Pathological myopia is one of the leading causes of blindness globally. Lower birth weight (BW) within the normal range has been reported to increase the risk of myopia, although findings conflict. We sought to estimate the causal effect of BW on refractive error using Mendelian randomisation (MR), under the assumption of a linear relationship. Genetic variants associated with BW were identified from meta-analysis of a genome-wide association study (GWAS) for self-reported BW in 162 039 UK Biobank participants and a published Early Growth Genetics (EGG) consortium GWAS (n=26 836). We performed a one-sample MR analysis in 39 658 unrelated, adult UK Biobank participants (independent of the GWAS sample) using an allele score for BW as instrumental variable. A two-sample MR sensitivity a

• Modeling the genomic architecture of adiposity and anthropometrics across the lifespan - Unknown journal (n.d.) · Unknown authors · PubMed 40796553

  ABSTRACT: Obesity-related conditions are among the leading causes of preventable death and are increasing in prevalence worldwide. Body size and composition are complex traits that are challenging to characterize due to environmental and genetic influences, longitudinal variation, heterogeneity between sexes, and differing health risks based on adipose distribution. Here, we construct a 4-factor genomic structural equation model using 18 measures, unveiling shared and distinct genetic architectures underlying birth size, abdominal size, adipose distribution, and adiposity. Multivariate genome-wide associations reveal the adiposity factor is enriched specifically in neural tissues and pathways, while adipose distribution is enriched more broadly across physiological systems. In addition, po

• Genomewide association study of alcohol dependence and related traits in a Thai population - Unknown journal (n.d.) · Unknown authors · PubMed 29460428

  ABSTRACT: Background Alcohol use (both quantity and dependence) is moderately heritable, and genomewide association studies (GWAS) have identified risk genes in European, African, and Asian populations. The most reproducibly identified risk genes affect alcohol metabolism. Well-known functional variants at the gene encoding alcohol dehydrogenase B (ADH1B) and other alcohol dehydrogenases affect risk in European and African-ancestry populations. Similarly, variants mapped to these same genes and a well-known null variant that maps to the gene that encodes aldehyde dehydrogenase 2 (ALDH2) also affect risk in various Asian populations. In this study we completed the first GWAS for three traits related to alcohol use in a Thai population recruited initially for studies of methamphetamine depen

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