Non-syndromic cleft lip with or without cleft palate in Asian populations: Association analysis on three gene polymorphisms of the folate pathway. (January 2016)

• Record Type: Journal Article
• Authors: Martinelli, Marcella; Girardi, Ambra; Cura, Francesca; Nouri, Nayereh; Pinto, Valentina; Carinci, Francesco; Morselli, Paolo Giovanni; Salehi, Mansoor; Scapoli, Luca
• Is Part Of: Archives of oral biology. Volume 61(2016)
• Page Start: 79
• Page End: 82
• Publication Date: 2016-01
• Subjects: OFC orofacial cleft -- CL/P cleft lip with or without cleft palate -- CPO cleft palate only -- NSCL/P non-syndromic cleft lip with or without cleft palate -- MTHFR methylenetetrahydrofolate reductase -- TCN2 transcobalamin 2 -- CBS cystathionine beta-synthase -- SNP single nucleotide polymorphism -- TDT transmission disequilibrium test; Cleft lip with or without cleft palate -- Polymorphism -- MTHFR -- TCN2 -- CBS -- Association; Mouth -- Periodicals; Mouth -- Diseases -- Periodicals; Dentistry -- Periodicals; Electronic journals; 617.6005
• DOI: 10.1016/j.archoralbio.2015.10.019
• Languages: English
• ISSNs: 0003-9969

Abstract

Highlights: The study investigated three candidate genes for cleft lip with or without palate. The T allele of MTHFR C677T polymorphism reduces the risk of cleft in Asians. This result conflicts with previous studies. Abstract: Objective: Orofacial clefts (OFCs) are one of the most common birth defects in humans. They are the subject of a number of investigations aimed at elucidating the bases of their complex mode of inheritance involving both genetic and environmental factors. Genes belonging to the folate pathway have been among the most studied. The aim of the investigation was to replicate previous studies reporting evidence of association between polymorphisms of folate related genes and the occurrence of non-syndromic cleft lip with or without cleft palate (NSCL/P), using three independent samples of different ancestry: from Tibet, Bangladesh and Iran, respectively. Design: Specifically, the polymorphisms rs1801133 of MTHFR, rs1801198 of TCN2, and rs4920037 of CBS, were tested. Results: A decreased risk of NSCL/P was observed in patients presenting the C677T variant at MTHFR gene (relative risk for heterozygotes = 0.53; 95% confidence interval [C.I.] = 0.32–0.87). The investigated polymorphisms mapping at TCN2 and CBS genes did not provide any evidence of association. Conclusion: Overall, these results indicate that NSCL/P risk factors differ among populations and confirm the importance of testing putative susceptibility variants in different genetic backgrounds.