Capital Institute of Pediatrics, Beijing 100020, China.
Gene. 2012 Sep 1;505(2):340-4. doi: 10.1016/j.gene.2012.05.035. Epub 2012 May 27.
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.
蛋白-L-异天冬氨酸（D-天冬氨酸）O-甲基转移酶 1（PCMT1）基因编码蛋白修复酶 L-异天冬氨酸（D-天冬氨酸）O-甲基转移酶（PIMT），已知该酶可保护某些神经细胞免受 Bax 诱导的细胞凋亡。先前的研究表明，加利福尼亚人群中婴儿的 PCMT1 多态性 rs4552 和 rs4816 与脊柱裂有关。母体多态性与神经管缺陷之间的关联尚未被揭示。采用高分辨率 DNA 熔解分析基因分型方法，在中国山西吕梁高危地区进行了一项病例对照研究，以调查母体 PCMT1 与神经管缺陷之间的可能关联。我们发现，与正常对照组相比，孤立性神经管缺陷患者中 G（与 A 相比）等位基因（p=0.034，OR=1.896，95%CI，1.04-3.45）和 GG+GA 基因型（p=0.025，OR=2.237，95%CI，1.09-4.57）发生无脑畸形的风险增加。尽管在多重比较校正后，该结果失去了统计学意义，但结果提示母体 PCMT1 多态性可能是中国人群中孤立性无脑畸形的潜在遗传危险因素。
