Expressive

rs11569470 - C3

Magnitude 2.2 · 2 studies on file

Reported associations

  • Medical Records-Based Genetic Studies of the Complement System. - Journal of the American Society of Nephrology : JASN (2021) · Khan A, Shang N, Petukhova L, Zhang J, Shen Y, Hebbring SJ, Moncrieffe H, Kottyan LC, Namjou-Khales B, Knevel R, Raychaudhuri S, Karlson EW, Harley JB, Stanaway IB, Crosslin D, Denny JC, Elkind MSV, Gharavi AG, Hripcsak G, Weng C, Kiryluk K · PubMed 33941608

    Genetic variants in complement genes have been associated with a wide range of human disease states, but well-powered genetic association studies of complement activation have not been performed in large multiethnic cohorts. We performed medical records-based genome-wide and phenome-wide association studies for plasma C3 and C4 levels among participants of the Electronic Medical Records and Genomics (eMERGE) network. In a GWAS for C3 levels in 3949 individuals, we detected two genome-wide significant loci: chr.1q31.3 (CFH locus; rs3753396-A; =0.20; 95% CI, 0.14 to 0.25; =1.52x10 ) and chr.19p13.3 (C3 locus; rs11569470-G; =0.19; 95% CI, 0.13 to 0.24; =1.29x10 ). These two loci explained approximately 2% of variance in C3 levels. GWAS for C4 levels involved 3998 individuals and revealed a ge

  • Plasma proteome variation and its genetic determinants in children and adolescents - Unknown journal (n.d.) · Unknown authors · PubMed 39972214

    ABSTRACT: Our current understanding of the determinants of plasma proteome variation during pediatric development remains incomplete. Here, we show that genetic variants, age, sex and body mass index significantly influence this variation. Using a streamlined and highly quantitative mass spectrometry-based proteomics workflow, we analyzed plasma from 2,147 children and adolescents, identifying 1,216 proteins after quality control. Notably, the levels of 70% of these were associated with at least one of the aforementioned factors, with protein levels also being predictive. Quantitative trait loci (QTLs) regulated at least one-third of the proteins; between a few percent and up to 30-fold. Together with excellent replication in an additional 1,000 children and 558 adults, this reveals substa

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