Maternal PCMT1 gene polymorphisms and the risk of neural tube defects in a Chinese population of Lvliang high-risk area.
Protein-L-isoaspartate (D-aspartate) O-methyltransferase 1 (PCMT1) gene encodes for the protein repair enzyme L-isoaspartate (D-aspartate) O-methyltransferase (PIMT), which is known to protect certain neural cells from Bax-induced apoptosis. Previous study has shown that PCMT1 polymorphisms rs4552 and rs4816 of infant are associated with spina bifida in the Californian population. The association between maternal polymorphism and neural tube defects is still uncovered. A case-control study was conducted to investigate a possible association between maternal PCMT1 and NTDs in Lvliang high-risk area of Shanxi Province in China, using a high-resolution DNA melting analysis genotyping method. We found that increased risk for anencephaly in isolated NTDs compared with the normal control group was observed for the G (vs. A) allele (p=0.034, OR=1.896, 95% CI, 1.04-3.45) and genotypes GG+GA (p=0.025, OR=2.237, 95% CI, 1.09-4.57). Although the significance was lost after multiple comparison correction, the results implied that maternal polymorphisms in PCMT1 might be a potential genetic risk factor for isolated anencephaly in this Chinese population.
Capital Institute of Pediatrics, Beijing 100020, China.
Huizhi
H
Zhao
Fang
F
Wang
Jianhua
J
Wang
Hua
H
Xie
Jin
J
Guo
Chi
C
Liu
Li
L
Wang
Xiaolin
X
Lu
Yihua
Y
Bao
Guoliang
G
Wang
Rugang
R
Zhong
Bo
B
Niu
Ting
T
Zhang
D000328:Adult; D044466:Asian People / Q000235:genetics* / Q000706:statistics & numerical data; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D005260:Female; D006801:Humans; D015994:Incidence; D007223:Infant; D009436:Neural Tube Defects / Q000453:epidemiology* / Q000235:genetics*; D011110:Polymorphism, Genetic; D011247:Pregnancy; D015995:Prevalence; D026601:Protein D-Aspartate-L-Isoaspartate Methyltransferase / Q000235:genetics*; D012306:Risk; D055815:Young Adult
C435725:PCMT1 protein, human; D026601:Protein D-Aspartate-L-Isoaspartate Methyltransferase