Non-syndromic cleft lip with or without cleft palate (CL/P) is a common birth defect with substantial clinical and social impact and whose causes include both genetic and environmental factors. Folate and homocysteine (Hcy) metabolism have been indicated to play a role in the etiology of CL/P, and polymorphisms in folate and Hey genes may act as susceptibility factors. We investigated a common polymorphism in the cystathionine beta-synthase (CBS) gene (c.844ins68) in 134 Italian CL/P cases and their parents using the transmission disequilibrium test (TDT). Although no overall linkage disequilibrium was observed, considering the parent-of-origin transmission of the CBS 68 bp insertion a significant (P = 0.002) transmission distortion was detected. When children receive the c.844ins68 allele from the mother compared to the father, they show a 18.7-fold increase in risk for CL/P. This evidence suggests CBS as a candidate gene for CUP and supports a role of maternal-embryo interactions in the etiology of CL/P. (c) 2005 Wiley-Liss, Inc.
Cystathionine beta-synthase c.844ins68 gene variant and non-syndromic cleft lip and palate / M. Rubini, R. Brusati, G. Garattini, C. Magnani, F. Liviero, F. Bianchi, E. Tarantino, A. Massei, S. Pollastri, S. Carturan, A. Amadori, E. Bertagnin, A. Cavallaro, A. Fabiano, A. Franchella, E. Calzolari. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - 136A:4(2005), pp. 368-372.
Cystathionine beta-synthase c.844ins68 gene variant and non-syndromic cleft lip and palate
R. Brusati;G. Garattini;
2005
Abstract
Non-syndromic cleft lip with or without cleft palate (CL/P) is a common birth defect with substantial clinical and social impact and whose causes include both genetic and environmental factors. Folate and homocysteine (Hcy) metabolism have been indicated to play a role in the etiology of CL/P, and polymorphisms in folate and Hey genes may act as susceptibility factors. We investigated a common polymorphism in the cystathionine beta-synthase (CBS) gene (c.844ins68) in 134 Italian CL/P cases and their parents using the transmission disequilibrium test (TDT). Although no overall linkage disequilibrium was observed, considering the parent-of-origin transmission of the CBS 68 bp insertion a significant (P = 0.002) transmission distortion was detected. When children receive the c.844ins68 allele from the mother compared to the father, they show a 18.7-fold increase in risk for CL/P. This evidence suggests CBS as a candidate gene for CUP and supports a role of maternal-embryo interactions in the etiology of CL/P. (c) 2005 Wiley-Liss, Inc.Pubblicazioni consigliate
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