rs11587400 - PKMP1; PKMP1 - BCAS2; TRIM33 - PKMP1

Magnitude 2.0 · 1 study on file

Reported associations

• Common genetic variants on 1p13.2 associate with risk of autism. - Molecular psychiatry (2015) · Xia K, Guo H, Hu Z, Xun G, Zuo L, Peng Y, Wang K, He Y, Xiong Z, Sun L, Pan Q, Long Z, Zou X, Li X, Li W, Xu X, Lu L, Liu Y, Hu Y, Tian D, Long L, Ou J, Liu Y, Li X, Zhang L, Pan Y, Chen J, Peng H, Liu Q, Luo X, Su W, Wu L, Liang D, Dai H, Yan X, Feng Y, Tang B, Li J, Miedzybrodzka Z, Xia J, Zhang Z, Luo X, Zhang X, St Clair D, Zhao J, Zhang F · PubMed 24189344

  Autism is a highly heritable neurodevelopmental disorder, and known genetic variants, mostly rare, account only for a small proportion of cases. Here we report a genome-wide association study on autism using two Chinese cohorts as gene discovery (n=2150) and three data sets of European ancestry populations for replication analysis of top association signals. Meta-analysis identified three single-nucleotide polymorphisms, rs936938 (P=4.49 × 10(-8)), non-synonymous rs6537835 (P=3.26 × 10(-8)) and rs1877455 (P=8.70 × 10(-8)), and related haplotypes, AMPD1-NRAS-CSDE1, TRIM33 and TRIM33-BCAS2, associated with autism; all were mapped to a previously reported linkage region (1p13.2) with autism. These genetic associations were further supported by a cis-acting regulatory effect on the gene exp

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