Non-syndromic cleft palate: Association analysis on three gene polymorphisms of the folate pathway in Asian and Italian populations.
Asian People
/ genetics
Case-Control Studies
Cleft Lip
/ genetics
Cleft Palate
/ genetics
Female
Folic Acid
/ genetics
Gene Frequency
/ genetics
Genetic Predisposition to Disease
/ genetics
Genotype
Homocystinuria
/ genetics
Humans
Italy
Male
Methylenetetrahydrofolate Reductase (NADPH2)
/ genetics
Polymorphism, Single Nucleotide
/ genetics
Transcobalamins
/ genetics
Asian and Italian populations
cleft palate
folic acid
Journal
International journal of immunopathology and pharmacology
ISSN: 2058-7384
Titre abrégé: Int J Immunopathol Pharmacol
Pays: England
ID NLM: 8911335
Informations de publication
Date de publication:
Historique:
entrez:
31
10
2019
pubmed:
31
10
2019
medline:
20
3
2020
Statut:
ppublish
Résumé
Periconceptional folic acid supplementation can reduce the risk of inborn malformations, including orofacial clefts. Polymorphisms of MTHFR, TCN2, and CBS folate-related genes seem to modulate the risk of cleft lip with or without cleft palate (CL/P) in some populations. CL/P and cleft palate only (CPO) are different malformations that share several features and possibly etiological causes. In the present investigation, we conducted a family-based, candidate gene association study of non-syndromic CPO. Three single nucleotide polymorphisms, namely, rs1801133 of MTHFR, rs1801198 of TCN2, and rs4920037 of CBS, were investigated in a sample that included 129 Italian and 65 Asian families. No evidence of association between the three genotyped polymorphisms and CPO was found in the Italian and Asian cases, indeed the transmission disequilibrium test did not detect any asymmetry of transmission of alleles. This investigation, although with some limitation, further supports that CL/P and CPO diverge in their genetic background.
Identifiants
pubmed: 31663447
doi: 10.1177/2058738419858572
pmc: PMC6822179
doi:
Substances chimiques
Transcobalamins
0
Folic Acid
935E97BOY8
Methylenetetrahydrofolate Reductase (NADPH2)
EC 1.5.1.20
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
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