rs114205213 - TRPC4AP, MYH7B

Magnitude 2.2 · 1 study on file

Reported associations

• Early lipid genetics: identification of common and rare genetic variants for lipid traits in Indian adolescents. - Journal of human genetics (2025) · Nair JM, Basu A, Tandon N, Bharadwaj D · PubMed 40841581

  Elucidating the genetic basis of lipid metabolism in children is essential for early intervention in dyslipidemia and cardiovascular diseases. We performed a two-staged genome-wide association study (GWAS; N = 5412) and an independent exome-wide association study (ExWAS; N = 4750) on lipid parameters-HDL, LDL, Triglycerides (TG), Total Cholesterol (TC) in Indian school-going children - the largest single-cohort paediatric lipid study till date. GWAS identified robust associations at established loci, including CETP for HDL; CELSR2, and PSRC1 for LDL and TC, and GCKR, ZNF259, and TBL2 for TG. We also validated known associations at sub-GWAS significance in FADS2, GATAD2A, PRKCA, and QKI. Exome-based analyses further refined functional variants within these loci and revealed addition

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