In the present study we genotyped MTR A2756G SNP and MTRR A66G polymorphisms in 142 patients with NSCL/P and 141 healthy controls using PCR-RFLP assay.
The genotype frequencies of the control group were in agreement with the Hardy-Weinberg equilibrium for the MTR A2756G (p = 0.096), but not for MTRR A66G (p < 0.001). The MTRR A66G is polymorphic, but the homozygous GG genotype was not observed in both control and NSCL/P groups. MTRR A66G heterozygous genotype significantly increased the risk of CL/P (OR = 1.65, 95% CI = 1.00–2.72) and CPO (OR = 3.21, 95% CI = 1.01–10.15) in codominant model suggesting a possible link with NSCL/P predisposition; however, the more stringent Yates’ test suggests no significance. There are no clear differences in risk for CL/P or CPO was observed for different MTR–MTRR genotype combinations.
The present study failed to show an association between the MTR A2756G gene and NSCL/P and provides possible evidence regarding MTRR A66G risk for non-syndromic cleft lip and palate possibly due to abnormal folate and homocysteine status in Indian population.