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• W2047720912 abstract "Non‐syndromic cleft lip with or without cleft palate ( NSCL /P) is one of the most common of all congenital malformations and has a multifactorial etiology. Findings in mice suggest that the v‐ski sarcoma viral oncogene homolog ( SKI ) gene is a candidate gene for orofacial clefting. In humans, a significant association between rs2843159 within SKI and NSCL / P has been reported in patients from the Philippines and South America. In the South American patients, the association was driven by the subgroup of patients with non‐syndromic cleft lip only ( NSCLO ). Here we investigated the association with rs2843159 in a Mayan Mesoamerican population (172 NSCL / P patients and 366 controls). In addition, we analyzed the phenotypic subgroups NSCLO and non‐syndromic cleft of lip and palate ( NSCLP ). A trend towards association between rs2843159 and NSCL / P was observed in the Mayan cohort ( P = 0.097), and we found a stronger association in the NSCLP subgroup ( P = 0.072) despite a limited sample size. To investigate whether other common variants within the SKI gene contribute to NSCL / P susceptibility in European and Asian populations, we also analyzed genotypic data from two recent genome‐wide association studies using set‐based statistical approaches. These analyses detected a trend toward association in the European population. Our data provide limited support for the hypothesis that common SKI variants are susceptibility factors for NSCL / P ." @default.
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• W2047720912 date "2012-08-24" @default.
• W2047720912 modified "2023-10-18" @default.
• W2047720912 title "Evaluating<i>SKI</i>as a candidate gene for non-syndromic cleft lip with or without cleft palate" @default.
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• W2047720912 doi "https://doi.org/10.1111/j.1600-0722.2012.00991.x" @default.
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