title: Association between KIAA0319L, PXK and JAZF1 gene polymorphisms and unexplained recurrent pregnancy loss in Chinese Han couples.
abstract: KIAA0319L, PXK and JAZF1 gene polymorphisms were investigated to determine whether they conferred susceptibility to unexplained recurrent pregnancy loss (URPL) in a group of Chinese Han patients. Genotyping and sequencing of the single nucleotide polymorphisms (SNP) rs2275247(A/G) in KIAA0319L, rs2176082(C/T) and rs6445975(G/T) in PXK and the rs1635852(C/T) in JAZF1 were carried out in 84 couples with URPL and 102 healthy couples with at least one live birth. Frequencies of the SNP rs2176082(C/T) in PXK gene were significantly different between women with URPL and control women: P < 0.05; OR 95% CI 0.530 (0.287 to 0.979); OR 95% CI 0.482 (0.254 to 0.911) but were not significantly different after Bonferroni correction. The frequencies of the SNP rs2176082(C/T) in PXK gene showed no difference between the husband of a woman with URPL and a control husband: OR 95% CI 1.494 (0.821 to 2.721); OR 95% CI 1.567 (0.841 to 2.921). No statistically significant differences were observed in the distribution of any genotype or allele frequency or any genetic model of the other three SNPs between couples with URPL and control couples. Therefore, the rs2176082(C/T) polymorphism of PXK might play a possible role in the development of URPL in Chinese Han women.
authors.affiliation: Centre for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China; Shandong College of Traditional Chinese Medicine, Yantai, China.
authors.forename: Guihong
authors.initials: G
authors.lastname: Song
authors.affiliation: Centre for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China; National Research Centre for Assisted Reproductive Technology and Reproductive Genetics, Jinan, China; The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, China.
authors.forename: Junhao
authors.initials: J
authors.lastname: Yan
authors.affiliation: Centre for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China; National Research Centre for Assisted Reproductive Technology and Reproductive Genetics, Jinan, China; The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, China.
authors.forename: Guangyu
authors.initials: G
authors.lastname: Li
authors.affiliation: Centre for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China; National Research Centre for Assisted Reproductive Technology and Reproductive Genetics, Jinan, China; The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, China. Electronic address: chenzijiang@hotmail.com.
authors.forename: Zi-Jiang
authors.initials: ZJ
authors.lastname: Chen
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics* / Q000378:metabolism; D000328:Adult; D000483:Alleles; D044466:Asian People; D016022:Case-Control Studies; D002681:China; D056970:Co-Repressor Proteins; D004268:DNA-Binding Proteins; D005191:Family Characteristics; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006785:Hospitals, University; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008957:Models, Genetic; D009363:Neoplasm Proteins / Q000235:genetics* / Q000378:metabolism; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D017346:Protein Serine-Threonine Kinases / Q000235:genetics* / Q000378:metabolism; D011956:Receptors, Cell Surface; D012008:Recurrence
chemical_list: D056970:Co-Repressor Proteins; D004268:DNA-Binding Proteins; D047908:Intracellular Signaling Peptides and Proteins; C430460:JAZF1 protein, human; C541251:KIAA0319L protein, human; D009363:Neoplasm Proteins; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D011956:Receptors, Cell Surface; C508327:PXK protein, human; D017346:Protein Serine-Threonine Kinases
keywords: genetic association; single nucleotide polymorphisms; unexplained recurrent pregnancy loss