Association between parental transforming growth factor alpha gene TaqI variant, paternal smoking and the cleft lip with or without cleft palate

Abstract

To study the association between transforming growth factor alpha gene (TGFalpha) TaqI variant and nonsyndromic cleft lip with or without cleft palate (nsCL/P) in Chinese population, and the interaction with parental smoking. TGFalpha TaqI variant was detected using RFLP-PCR for DNA samples of the 170 triads with nsCL/P affected child. We performed the transmission/disequilibrium test (TDT) and the family-based association study (FBAT) to test the associations between this variant and risk of nsCL/P. It was not found significant distortion of C2 allele at TGFalpha TaqI locus in nsCL/P groups (P > 0.05), however, by stratified analysis, we found that the rate of C2 allele transmission among nuclear families whose fathers were smoking was 1/5 (0.062 - 0.711) as compared with that among nuclear families whose fathers were not smoking, and the OR of interaction between TGFalpha variant and parental smoking is 0.102 (0.017 - 0.619). The parental smoking may interact with TGFalpha variants of Chinese populations in occurrence of nsCL/P, but it remains to have more investigations.