Association of EPHA3 Gene Variation with Oral Hygiene in an Iranian Population

Abstract

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.