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.　(c)　2012　Elsevier　B.V.　All　rights　reserved.