association of epha3 gene variation with oral hygiene in an iranian population

Background: non-syndromic cleft lip with or without cleft palate (nscl/p) is the most prevalent congenital birth anomaly. the epha3 gene is suggested to play a pivotal role in the development of oral clefts. objectives: this study aimed to evaluate the influence of epha3 gene polymorphisms on the risk of nscl/p within an iranian cohort. methods: we performed genotyping of the epha3 gene polymorphisms rs7650466, rs1398197, rs17801309, rs1054750, and rs7632427 in 150 nscl/p patients and 152 healthy controls using pcr-rflp, t-arms-pcr, and arms-pcr methods. results: the results indicated that the rs1398197 variation significantly reduced the risk of nscl/p in a heterozygous codominant model (or = 0.58, 95% ci = 0.36 - 0.94, p = 0.027, g/a vs. g/g), a dominant model (or = 0.56, 95% ci = 0.35 - 0.89, p = 0.014, g/a + a/a vs. g/g), and at the allele level (or = 0.62, 95% ci = 0.43 - 0.91, p = 0.014, a vs. g). the rs1054750 polymorphism showed a decreased risk of nscl/p in codominant (or = 0.62, 95% ci = 0.39 - 0.99, p = 0.047, t/c vs. t/t) and dominant models (or = 0.62, 95% ci = 0.39 - 0.98, p = 0.042, t/c + c/c vs. t/t). the rs17801309 polymorphism was not associated with any risk or protection from nscl/p. rs7650466 and rs7632427 were not polymorphic in the study sample. conclusions: our findings suggest that variants of the epha3 gene may be linked with a reduced risk of nscl/p.