A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis.

ABSTRACT: Our previous genome-wide association study (GWAS) for sagittal nonsyndromic craniosynostosis (sNCS) provided important insights into the genetics of midline CS. In this study, we performed a GWAS for a second midline NCS, metopic NCS (mNCS), using 215 non-Hispanic white case-parent triads. We identified six variants with genome-wide significance (P ≤ 5 × 10^-8): rs781716 (P = 4.71 × 10^-9; odds ratio [OR] = 2.44) intronic to SPRY3; rs6127972 (P = 4.41 × 10^-8; OR = 2.17) intronic to BMP7; rs62590971 (P = 6.22 × 10^-9; OR = 0.34), located ~ 155 kb upstream from TGIF2LX; and rs2522623, rs2573826, and rs2754857, all intronic to PCDH11X (P = 1.76 × 10^-8, OR = 0.45; P = 3.31 × 10^-8, OR = 0.45; P = 1.09 × 10^-8, OR = 0.44, r

SUBMITTER: Justice CM 

PROVIDER: S-EPMC7415527 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature