Role of MSX1 in the development of non-syndromic clefts in the sub-Himalayan region of India.

Abstract

Non-syndromic cleft lip and palate (NSCL/P) is a prevalent congenital anomaly influenced by genetic and environmental factors. The role of the MSX1 gene in NSCL/P has been explored in various populations, with conflicting results. This study investigates the association between MSX1 single nucleotide polymorphisms (SNPs) rs11726039 and rs3821949 and NSCL/P in a sub-Himalayan population of India. A total of 395 subjects, including 216 patients and 179 controls, were genotyped using TaqMan assays. The study also considered environmental factors, such as maternal smoking and folic acid intake. Statistical analysis, including odds ratios (OR), Fisher's exact test, and Hardy-Weinberg equilibrium, was used to assess the association between the SNPs (single nuclear polymorphisms) and NSCL/P. While rs11726039 showed no significant association in either patient or parental samples, rs3821949 indicated a protective effect in fathers (OR = 0.44, p = 0.001) but not in patients. The findings highlight population-specific variations in the genetic aetiology of NSCL/P and the need for larger studies to confirm the role of MSX1 SNPs in the sub-Himalayan region. Despite being located in the same country, differences in genetic associations were noted between the sub-Himalayan and South Indian populations, underscoring the complexity of genetic interactions in NSCL/P.