Association of methylenetetrahydrofolate reductase A1298C polymorphisms with non-syndromic cleft lip with or without cleft palate / 中华口腔医学杂志
Chinese Journal of Stomatology
;
(12): 394-397, 2011.
Article
in Chinese
| WPRIM
| ID: wpr-306424
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the association between a polymorphism of methylenetetrahydrofolate reductase with Non-syndromic cleft lip with or without cleft palate (NSCL/P) in Chinese population.</p><p><b>METHODS</b>The polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP) technique was used to detect a single nucleotide polymorphism (SNP), rs1801131, at the methylenetetrahydrofolate reductase (MTHFR) gene in both 158 patients with NSCL/P and 192 healthy individuals. The Hardy-Weinberg equilibrium for genotypic distributions was estimated by the goodness-of-fit test. The UNPHASED program was applied to perform the association analysis.</p><p><b>RESULTS</b>The genotypic distribution of A1298C was not deviated from the Hardy-Weinberg equilibrium in both controls and patients. No association was found between cleft lip with or without palate (CL/P) and controls. There was significant difference of cleft palate only (CPO) and the healthy individuals (χ(2) = 4.256, P = 0.039). The frequency of AC + CC genotype was higher in control group than that in CPO group (OR = 0.8, 95%CI = 0.381 - 1.683), 26 among 100 healthy individuals carried AC + CC genetypes, which were carried by 22% of CPO patients.</p><p><b>CONCLUSIONS</b>The polymorphism of MTHFR A1298C may be involved in the occurrence of non-syndromic cleft palate only in Chinese population.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Cleft Lip
/
Cleft Palate
/
Genetic Predisposition to Disease
/
Polymorphism, Single Nucleotide
/
Methylenetetrahydrofolate Reductase (NADPH2)
/
Asian People
/
Alleles
/
Gene Frequency
/
Genetics
/
Genotype
Limits:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Stomatology
Year:
2011
Type:
Article
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