rs1054280 - DVL2

Magnitude 2.2 · 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

• Associations with metabolites in Chinese suggest new metabolic roles in Alzheimer's and Parkinson's diseases. - Human molecular genetics (2020) · Chai JF, Raichur S, Khor IW, Torta F, Chew WS, Herr DR, Ching J, Kovalik JP, Khoo CM, Wenk MR, Tai ES, Sim X · PubMed 31628463

  Metabolites are small intermediate products of cellular metabolism perturbed in a variety of complex disorders. Identifying genetic markers associated with metabolite concentrations could delineate disease-related metabolic pathways in humans. We tested genetic variants for associations with 136 metabolites in 1954 Chinese from Singapore. At a conservative genome-wide threshold (3.7 × 10-10), we detected 1899 variant-metabolite associations at 16 genetic loci. Three loci (ABCA7, A4GALT, GSTM2) represented novel associations with metabolites, with the strongest association observed between ABCA7 and d18:1/24:1 dihexosylceramide. Among 13 replicated loci, we identified six new variants independent of previously reported metabolite or lipid signals. We observed variant-metabolite associa

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