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.
journal_name
Int J Immunopathol Pharmacolauthors
Carinci F,Palmieri A,Scapoli L,Cura F,Abenavoli F,Giannì AB,Russillo A,Docimo R,Martinelli Mdoi
10.1177/2058738419855571subject
Has Abstractpub_date
2019-01-01 00:00:00pages
2058738419855571eissn
0394-6320issn
2058-7384journal_volume
33pub_type
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