Expressive

rs12104272 - SCAF1 x SEMA3C - EIF4EP4

Magnitude 2.0 · 2 studies on file

Reported associations

  • Genome-wide interaction analysis of pathological hallmarks in Alzheimer's disease - Neurobiology of aging (2021) · Wang H, Yang J, Schneider JA, De Jager PL, Bennett DA, Zhang HY · PubMed 32450446

    ABSTRACT: Genome-wide association studies have identified many loci associated with Alzheimer's dementia. However, these variants only explain part of the heritability of Alzheimer's disease (AD). As genetic epistasis can be a major contributor to the "missing heritability" of AD, we conducted genome-wide epistasis screening for AD pathologies in two independent cohorts. First, we performed a genome-wide epistasis study of AD-related brain pathologies (Nmax = 1,318) in ROS/MAP. Candidate interactions were validated using cerebrospinal fluid biomarkers of AD in ADNI (Nmax = 1,128). Further functional analysis tested the association of candidate interactions with neuroimaging phenotypes. For tau and amyloid-β (Aβ) pathology, we identified 2,803 and 464 candidate SNP-SNP interaction

  • Comparative genetic architectures of schizophrenia in East Asian and European populations - Nature genetics (2020) · Lam M, Chen CY, Li Z, Martin AR, Bryois J, Ma X, Gaspar H, Ikeda M, Benyamin B, Brown BC, Liu R, Zhou W, Guan L, Kamatani Y, Kim SW, Kubo M, Kusumawardhani AAAA, Liu CM, Ma H, Periyasamy S, Takahashi A, Xu Z, Yu H, Zhu F, Chen WJ, Faraone S, Glatt SJ, He L, Hyman SE, Hwu HG, McCarroll SA, Neale BM, Sklar P, Wildenauer DB, Yu X, Zhang D, Mowry BJ, Lee J, Holmans P, Xu S, Sullivan PF, Ripke S, O'Donovan MC, Daly MJ, Qin S, Sham P, Iwata N, Hong KS, Schwab SG, Yue W, Tsuang M, Liu J, Ma X, Kahn RS, Shi Y, Huang H · PubMed 31740837

    ABSTRACT: Schizophrenia is a debilitating psychiatric disorder with approximately 1% lifetime risk globally. Large-scale schizophrenia genetic studies have reported primarily on European ancestry samples, potentially missing important biological insights. Here, we report the largest study to date of East Asian participants (22,778 schizophrenia cases and 35,362 controls), identifying 21 genome-wide significant associations in 19 genetic loci. Common genetic variants that confer risk for schizophrenia have highly similar effects between East Asian and European ancestries (rg = 0.98 ± 0.03), indicating that the genetic basis of schizophrenia and its biology are broadly shared across populations. A fixed-effect meta-analysis including individuals from East Asian and European ancestries ident

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