Mal J Nutr 21(1): 57 - 65, 2015

Association of PEMT rs4244593 Polymorphism with Non-syndromic Cleft Lip and Palate in the Indian Population
Murthy Venkatesh Babu G2 & Bhaskar LVKS2,3*

ABSTRACT

Introduction: Non-syndromic cleft lip with or without cleft palate (NSCLP) is a multifactorial threshold trait (MFT) involving both genetic and environmental factors. Choline, methionine and folate metabolism are interrelated in converting the homocysteine to methionine. Phosphatidylethanolamine N-methyltransferase (PEMT) is involved in biosynthesis of choline.
Methods: We studied the PEMT rs4244593 SNP to assess its effect on NSCLP risk in the South Indian population. Blood samples of 142 cases with NSCLP and 141 controls were collected and genotyped using PCR-RFLP. Statistical analysis of the results was performed by calculating OR, and 95% CI via x2 test.
Results: Proportions of genotypes were 16.9 % AA, 64.8 % AC, 16.9 % CC in cases and 35.5 % AA, 47.5 % AC, 17.0 % CC in controls. The C allele frequency was 50.7% for cases and 40.8% for controls. An increased risk was found for co-dominant (AC vs. AA: OR =2.86, 95% CI =1.60 to 5.11, p<0.001; CC vs. AA: OR =2.26, 95% CI =1.08 to 4.72, p=0.029), dominant (AC+CC vs. AA: OR =2.70, 95% CI =1.55 to 4.72, p<0.001) and allelic models (C vs. A: OR =1.49, 95% CI =1.07 to 2.08, p=0.018).
Conclusion: Although our results indicate that the PEMT rs4244593 polymorphism is one of the important genetic determinants of NSCLP risk in South Indian subjects, in the absence of mechanistic studies, this polymorphism cannot be considered as a determinant of NSCLP risk. Additional studies with fully validated functional SNPs and larger sample sizes are needed to confirm our findings.

Keywords: Choline orofacial cleft, PEMT protein, SNP

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