Expressive

rs12178835 - PCMT1

Magnitude 2.0 · 2 studies on file

Reported associations

  • Cross-ancestry genome-wide association meta-analyses of hippocampal and subfield volumes. - Nature genetics (2023) · Liu N, Zhang L, Tian T, Cheng J, Zhang B, Qiu S, Geng Z, Cui G, Zhang Q, Liao W, Yu Y, Zhang H, Gao B, Xu X, Han T, Yao Z, Qin W, Liu F, Liang M, Xu Q, Fu J, Xu J, Zhu W, Zhang P, Li W, Shi D, Wang C, Lui S, Yan Z, Chen F, Li J, Zhang J, Wang D, Shen W, Miao Y, Xian J, Gao JH, Zhang X, Li MJ, Xu K, Zuo XN, Wang M, Ye Z, Yu C · PubMed 37337106

    The hippocampus is critical for memory and cognition and neuropsychiatric disorders, and its subfields differ in architecture and function. Genome-wide association studies on hippocampal and subfield volumes are mainly conducted in European populations; however, other ancestral populations are under-represented. Here we conduct cross-ancestry genome-wide association meta-analyses in 65,791 individuals for hippocampal volume and 38,977 for subfield volumes, including 7,009 individuals of East Asian ancestry. We identify 339 variant-trait associations at P < 1.13 × 10 for 44 hippocampal traits, including 23 new associations. Common genetic variants have similar effects on hippocampal traits across ancestries, although ancestry-specific associations exist. Cross-ancestry analysis imp

  • Shared heritability of human face and brain shape - Nature genetics (2021) · Naqvi S, Sleyp Y, Hoskens H, Indencleef K, Spence JP, Bruffaerts R, Radwan A, Eller RJ, Richmond S, Shriver MD, Shaffer JR, Weinberg SM, Walsh S, Thompson J, Pritchard JK, Sunaert S, Peeters H, Wysocka J, Claes P · PubMed 33821002

    ABSTRACT: Evidence from model organisms and clinical genetics suggests coordination between the developing brain and face, but the role of this link in common genetic variation remains unknown. We performed a multivariate genome-wide association study (GWAS) of cortical surface morphology in 19,644 European-ancestry individuals, identifying 472 genomic loci influencing brain shape, of which 76 are also linked to facial shape. Shared loci include transcription factors involved in craniofacial development, as well as members of signaling pathways implicated in brain-face crosstalk. Brain shape heritability is equivalently enriched near regulatory regions active in either forebrain organoids or facial progenitors. However, we do not detect significant overlap between shared brain-face GWAS si

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