rs10982662 - DELEC1

Magnitude 2.0 · 2 studies on file

Reported associations

• Metabolome-wide association identifies ferredoxin-1 (FDX1) as a determinant of cholesterol metabolism and cardiovascular risk in Asian populations. - Nature cardiovascular research (2025) · Sadhu N, Dalan R, Jain PR, Lee CJM, Pakkiri LS, Tay KY, Mina TH, Low D, Min Y, Ackers-Johnson M, Thi TT, Kota VG, Shi Y, Liu Y, Yu H, Lai V, Yang Y, Tay D, Ng HK, Wang X, Wong KE, Lam M, Guan XL, Bertin N, Wong E, Best J, Sarangarajan R, Elliott P, Riboli E, Lee J, Lee ES, Ngeow J, Tan P, Cheung C, Drum CL, Foo RS, Michelotti GA, Yu H, Sheridan PA, Loh M, Chambers JC · PubMed 40360795

  The burden of cardiovascular disease is rising in the Asia-Pacific region, in contrast to falling cardiovascular disease mortality rates in Europe and North America. Here we perform quantification of 883 metabolites by untargeted mass spectroscopy in 8,124 Asian adults and investigate their relationships with carotid intima media thickness, a marker of atherosclerosis. Plasma concentrations of 3beta-hydroxy-5-cholestenoate (3BH5C), a cholesterol metabolite, were inversely associated with carotid intima media thickness, and Mendelian randomization studies supported a causal relationship between 3BH5C and coronary artery disease. The observed effect size was 5- to 6-fold higher in Asians than Europeans. Colocalization analyses indicated the presence of a shared causal variant between 3BH5C p

• A saturated map of common genetic variants associated with human height - Unknown journal (n.d.) · Unknown authors · PubMed 36224396

  ABSTRACT: Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40-50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sample sizes. Here, using data from a genome-wide association study of 5.4 million individuals of diverse ancestries, we show that 12,111 independent SNPs that are significantly associated with height account for nearly all of the common SNP-based heritability. These SNPs are clustered within 7,209 non-overlapping genomic segments with a mean size of around 90 kb, covering about 21% of the genome. The density of independent associations varies across the genome and the regions of increased density are enriched for biologically relevant genes. In out-of-sample estimation

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