Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2006-2-21
pubmed:abstractText
Non-syndromic cleft lip with or without cleft palate (nsCL/P) is one of the most common craniofacial malformations among newborn infants. It has been demonstrated that periconceptional folic acid supplementation may reduce the occurrence of offspring with clefts, particularly in the North China; however, the mechanism remains unknown. Our study of a thermolabile polymorphism (C677T) of methylenetetrahydrofolate reductase (MTHFR) gene in 170 Chinese case-parent triads revealed a moderate association between this MTHFR polymorphism and nsCL/P in a population from North China, but not in a population from South China. Moreover, the study revealed that the heterozygous parents in the North were about twice as likely to transmit the high-risk T allele to affected cases, as that observed in the South (OR = 2.24, 95% CI: 1.08-4.65). Thus, the MTHFR polymorphism is a significant risk factor for nsCL/P in this Northern Chinese population. Our study suggested possible genetic heterogeneity in the development of nsCL/P among Northern and Southern populations in China.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
1552-4825
pubmed:author
pubmed:copyrightInfo
2006 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
140
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
551-7
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:16470725-Adult, pubmed-meshheading:16470725-Alleles, pubmed-meshheading:16470725-Asian Continental Ancestry Group, pubmed-meshheading:16470725-China, pubmed-meshheading:16470725-Cleft Lip, pubmed-meshheading:16470725-Cleft Palate, pubmed-meshheading:16470725-Female, pubmed-meshheading:16470725-Folic Acid, pubmed-meshheading:16470725-Gene Frequency, pubmed-meshheading:16470725-Genotype, pubmed-meshheading:16470725-Geography, pubmed-meshheading:16470725-Humans, pubmed-meshheading:16470725-Infant, Newborn, pubmed-meshheading:16470725-Linkage Disequilibrium, pubmed-meshheading:16470725-Logistic Models, pubmed-meshheading:16470725-Male, pubmed-meshheading:16470725-Maternal Age, pubmed-meshheading:16470725-Methylenetetrahydrofolate Reductase (NADPH2), pubmed-meshheading:16470725-Nuclear Family, pubmed-meshheading:16470725-Point Mutation, pubmed-meshheading:16470725-Polymorphism, Single Nucleotide, pubmed-meshheading:16470725-Questionnaires, pubmed-meshheading:16470725-Risk Factors, pubmed-meshheading:16470725-Syndrome, pubmed-meshheading:16470725-Vitamin B Complex
pubmed:year
2006
pubmed:articleTitle
Variable contribution of the MTHFR C677T polymorphism to non-syndromic cleft lip and palate risk in China.
pubmed:affiliation
Institute of Reproductive Health, Peking University Health Science Center, Beijing, China. zhujh@ncmih.bjmu.edu.cn
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't