Association between oral cleft and transcobalamin 2 polymorphism in a sample study from Nassiriya, Iraq.

Abstract:

:Orofacial clefts are common congenital defects whose prevalence differs between geographical regions and ethnic groups. The inheritance is complex, involving the contribution of both genetic and environmental factors. The involvement of genes belonging to the folate pathway is still matter of debate, with strong evidences of association and conflicting results. After demonstrating the contribution, for a sample from the Italian population, of common mutations mapping on three genes of the folate pathway, our group tried to unravel their contribution in independent sample studies with different ethnicity. In the present investigation a set of 34 triads with oral cleft from Nassiriya, Iraq, has been genotyped for rs1801133 of MTHFR, rs1801198 of TCN2, and rs4920037 of CBS polymorphisms. Association analysis evidenced a decreased risk of cleft for children carrying the 667G allele at TCN2 gene (P = 0.02). This evidence further supported the relationship between polymorphisms of folate related genes and oral clefts, and outlined the relevance of studying populations having different ethnicity.

authors

Carinci F,Palmieri A,Scapoli L,Cura F,Abenavoli F,Giannì AB,Russillo A,Docimo R,Martinelli M

doi

10.1177/2058738419855571

subject

Has Abstract

pub_date

2019-01-01 00:00:00

pages

2058738419855571

eissn

0394-6320

issn

2058-7384

journal_volume

33

pub_type

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