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.

► An association study between maternal PCMT1 polymorphisms and isolated NTDs.
► We genotyped rs4816 and rs4552 of PCMT1 by high-resolution DNA melting analysis.
► We studied the population of Lvliang high-risk area of Shanxi Province in China.
► Maternal rs4816 might be a potential genetic risk factor for isolated anencephaly.