Association between a 45-bp 3'untranslated insertion/deletion polymorphism in exon 8 of UCP2 gene and neural tube defects in a high-risk area of China.
Uncoupling protein 2(UCP2) is an attractive candidate gene for screening neural tube defects (NTDs) risk. In this study, polymerase chain reaction and agarose gel electrophoresis were used to determine the distribution of the polymorphism in a case group of 140 deliveries with NTDs, and a control group of 251 normal newborns. We found that the frequencies of allele I and genotypes ID + II were higher in the case group than in the control group (P = .167, OR = 1.4, 95% CI, 0.9-2.1; P = .132, OR = 1.44, 95% CI, 0.89-2.33, respectively); and at low maternal educational level, the frequency of ID + II genotypes was significantly higher in the NTD case group (P < .05, OR = 1.7, 95% CI, 1.01-2.79). The result suggested that the polymorphism in UCP2 may be a potential genetic risk factor for NTDs in a high-risk area of China, and the association was influenced by maternal education.
Capital Institute of Pediatrics, Beijing, China.
Jianhua
J
Wang
Chi
C
Liu
Huizhi
H
Zhao
Fang
F
Wang
Jin
J
Guo
Hua
H
Xie
Xiaolin
X
Lu
Yihua
Y
Bao
Lijun
L
Pei
Bo
B
Niu
Rugang
R
Zhong
Xiaoying
X
Zheng
Ting
T
Zhang
D000328:Adult; D001483:Base Sequence; D002681:China / Q000453:epidemiology; D004522:Educational Status; D005091:Exons; D005260:Female; D005492:Folic Acid / Q000008:administration & dosage; D005787:Gene Frequency; D056726:Genetic Association Studies; D006801:Humans; D054643:INDEL Mutation; D007231:Infant, Newborn; D007473:Ion Channels / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009436:Neural Tube Defects / Q000188:drug therapy / Q000235:genetics*; D011110:Polymorphism, Genetic; D011247:Pregnancy; D012306:Risk; D000071246:Uncoupling Protein 2; D020506:Untranslated Regions / Q000235:genetics*; D055815:Young Adult
D007473:Ion Channels; D024101:Mitochondrial Proteins; C000604389:UCP2 protein, human; D000071246:Uncoupling Protein 2; D020506:Untranslated Regions; D005492:Folic Acid