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Evaluating SKI as a candidate gene for non‐syndromic cleft lip with or without cleft palate
Author(s) -
Mangold Elisabeth,
Reutter Heiko,
LeónCachón Rafael B. R.,
Ludwig Kerstin U.,
Herms Stefan,
ChacónCamacho Óscar,
OrtizLópez Rocío,
ParedesZenteno Mario,
ArizpeCantú Abelardo,
MuñozJiménez Sergio G.,
Nowak Stefanie,
Kramer FranzJosef,
Wienker Thomas F.,
Nöthen Markus M.,
Knapp Michael,
RojasMartínez Augusto
Publication year - 2012
Publication title -
european journal of oral sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.802
H-Index - 93
eISSN - 1600-0722
pISSN - 0909-8836
DOI - 10.1111/j.1600-0722.2012.00991.x
Subject(s) - candidate gene , etiology , genetics , genetic association , genome wide association study , medicine , genotype , biology , gene , single nucleotide polymorphism
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 .