rs10514487 - LINC01228 - DYNLRB2-AS1

Magnitude 2.8 · 1 study on file

Reported associations

• Genetic factors define CPO and CLO subtypes of nonsyndromicorofacial cleft - Unknown journal (n.d.) · Unknown authors · PubMed 31609978

  ABSTRACT: Nonsyndromic orofacial cleft (NSOFC) is a severe birth defect that occurs early in embryonic development and includes the subtypes cleft palate only (CPO), cleft lip only (CLO) and cleft lip with cleft palate (CLP). Given a lack of specific genetic factor analysis for CPO and CLO, the present study aimed to dissect the landscape of genetic factors underlying the pathogenesis of these two subtypes using 6,986 cases and 10,165 controls. By combining a genome-wide association study (GWAS) for specific subtypes of CPO and CLO, as well as functional gene network and ontology pathway analysis, we identified 18 genes/loci that surpassed genome-wide significance (P < 5 × 10−8) responsible for NSOFC, including nine for CPO, seven for CLO, two for both conditions and four that contribut

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