MTRR gene variants may predispose to the risk of Congenital Heart Disease in Down syndrome patients of Indian origin

Conclusion Results from this study indicate that the MTRR C524T and A66G polymorphisms influence the risk of the occurrence of CHD in DS patients of Indian Origin. This is the first report from India highlighting the potential association of MTRR C524T and A66G polymorphisms with CHD in DS. We are also the first one to report two novel polymorphisms, T19775C and 19778_19778delG in DS with CHD group. Hence these four polymorphisms can be used to evaluate the risk of CHD in DS patients.
Source: Egyptian Journal of Medical Human Genetics - Category: Genetics & Stem Cells Source Type: research