rs10089901 - HNF4G - RNU2-54P

Magnitude 2.0 · 1 study on file

Reported associations

• Shared genetic risk between major orofacial cleft phenotypes in an African population. - Genetic epidemiology (2024) · Alade A, Peter T, Busch T, Awotoye W, Anand D, Abimbola O, Aladenika E, Olujitan M, Rysavy O, Nguyen PF, Naicker T, Mossey PA, Gowans LJJ, Eshete MA, Adeyemo WL, Zeng E, Van Otterloo E, O'Rorke M, Adeyemo A, Murray JC, Lachke SA, Romitti PA, Butali A · PubMed 38634654

  Nonsyndromic orofacial clefts (NSOFCs) represent a large proportion (70%-80%) of all OFCs. They can be broadly categorized into nonsyndromic cleft lip with or without cleft palate (NSCL/P) and nonsyndromic cleft palate only (NSCPO). Although NSCL/P and NSCPO are considered etiologically distinct, recent evidence suggests the presence of shared genetic risks. Thus, we investigated the genetic overlap between NSCL/P and NSCPO using African genome-wide association study (GWAS) data on NSOFCs. These data consist of 814 NSCL/P, 205 NSCPO cases, and 2159 unrelated controls. We generated common single-nucleotide variants (SNVs) association summary statistics separately for each phenotype (NSCL/P and NSCPO) under an additive genetic model. Subsequently, we employed the pleiotropic analysis under

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