title: Association study of PARD3 gene polymorphisms with neural tube defects in a Chinese Han population.
abstract: Partitioning defective 3 homolog (PARD3) is an attractive candidate gene for screening neural tube defect (NTD) risk. To investigate the role of genetic variants in PARD3 on NTD risk, a case-control study was performed in a region of China with a high prevalence of NTDs. Total 53 single-nucleotide polymorphisms (SNPs) in PARD3 were genotyped in 224 fetuses with NTDs and in 253 normal fetuses. We found that 6 SNPs (rs2496720, rs2252655, rs3851068, rs118153230, rs10827337, and rs12218196) were statistically associated with NTDs (P < .05). After stratifying participants by NTD phenotypes, the significant association only existed in cases with anencephaly rather than spina bifida. Further haplotype analysis confirmed the association between PARD3 polymorphisms and NTD risk (global test P = 3.41e-008). Our results suggested that genetic variants in PARD3 were associated with susceptibility to NTDs in a Chinese Han population, and this association was affected by NTD phenotypes.
authors.affiliation: Peking Union Medical College, Capital Institute of Pediatrics, Beijing, China.
authors.forename: Yonghui
authors.initials: Y
authors.lastname: Gao
authors.forename: Xiaoli
authors.initials: X
authors.lastname: Chen
authors.forename: Shaofang
authors.initials: S
authors.lastname: Shangguan
authors.forename: Yihua
authors.initials: Y
authors.lastname: Bao
authors.forename: Xiaoli
authors.initials: X
authors.lastname: Lu
authors.forename: Jizhen
authors.initials: J
authors.lastname: Zou
authors.forename: Jin
authors.initials: J
authors.lastname: Guo
authors.forename: Yaohua
authors.initials: Y
authors.lastname: Dai
authors.forename: Ting
authors.initials: T
authors.lastname: Zhang
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000757:Anencephaly / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics / Q000378:metabolism; D016022:Case-Control Studies; D018797:Cell Cycle Proteins / Q000235:genetics* / Q000378:metabolism; D002681:China; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D009436:Neural Tube Defects / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D013116:Spinal Cord / Q000196:embryology / Q000378:metabolism; D016216:Ultrasonography, Prenatal
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D018797:Cell Cycle Proteins; D008565:Membrane Proteins; C509689:PARD3 protein, human