title: Maternal common variant rs2305957 spanning PLK4 is associated with blastocyst formation and early recurrent miscarriage.
abstract: To investigate whether the common variant rs2305957 spanning PLK4 (Polo-like kinase 4) confers risk to embryo development in Northern Chinese Han (CHN) women.
  
  
  
  Genetic association study.
  
  
  
  University hospital.
  
  
  
  A total of 2,015 infertile women who underwent in vitro fertilization (IVF), 530 women with early recurrent miscarriage (ERM), and 600 fertile control women in the CHN population.
  
  
  
  Genotyping of rs2305957 was performed by means of high-resolution melting analysis.
  
  
  
  Blastocyst formation, implantation, early miscarriage, and live birth rates in infertile women; genotype distribution at rs2305957 in ERM case and control subjects.
  
  
  
  In the first cohort of this study, infertile women with AA genotype had a lower blastocyst formation rate than those with AG or GG genotype. No significant differences were observed in implantation rate, early miscarriage rate, or live birth rate among AA, AG, and GG subgroups. In the second cohort, common variant rs2305957 was related to ERM. Genotype frequency differences were also significant in both additive model and dominant model.
  
  
  
  Common variant rs2305957 is associated with blastocyst formation and ERM in CHN women. Further investigations of PLK4 gene during embryo development could be worthwhile.
authors.affiliation: Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, People's Republic of China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, People's Republic of China; The Key Laboratory of Reproductive Endocrinology (Shandong University), Ministry of Education, Jinan, People's Republic of China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, People's Republic of China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Zhang
authors.affiliation: Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, People's Republic of China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, People's Republic of China; The Key Laboratory of Reproductive Endocrinology (Shandong University), Ministry of Education, Jinan, People's Republic of China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, People's Republic of China.
authors.forename: Guangyu
authors.initials: G
authors.lastname: Li
authors.affiliation: Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, People's Republic of China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, People's Republic of China; The Key Laboratory of Reproductive Endocrinology (Shandong University), Ministry of Education, Jinan, People's Republic of China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, People's Republic of China.
authors.forename: Lei
authors.initials: L
authors.lastname: Zhang
authors.affiliation: Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, People's Republic of China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, People's Republic of China; The Key Laboratory of Reproductive Endocrinology (Shandong University), Ministry of Education, Jinan, People's Republic of China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, People's Republic of China.
authors.forename: Xiaohe
authors.initials: X
authors.lastname: Sun
authors.affiliation: Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, People's Republic of China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, People's Republic of China; The Key Laboratory of Reproductive Endocrinology (Shandong University), Ministry of Education, Jinan, People's Republic of China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, People's Republic of China.
authors.forename: Dandan
authors.initials: D
authors.lastname: Zhang
authors.affiliation: Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, People's Republic of China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, People's Republic of China; The Key Laboratory of Reproductive Endocrinology (Shandong University), Ministry of Education, Jinan, People's Republic of China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, People's Republic of China.
authors.forename: Juanjuan
authors.initials: J
authors.lastname: Lu
authors.affiliation: Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, People's Republic of China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, People's Republic of China; The Key Laboratory of Reproductive Endocrinology (Shandong University), Ministry of Education, Jinan, People's Republic of China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, People's Republic of China.
authors.forename: Jinlong
authors.initials: J
authors.lastname: Ma
authors.affiliation: Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, People's Republic of China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, People's Republic of China; The Key Laboratory of Reproductive Endocrinology (Shandong University), Ministry of Education, Jinan, People's Republic of China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, People's Republic of China. Electronic address: yyy306@126.com.
authors.forename: Junhao
authors.initials: J
authors.lastname: Yan
authors.affiliation: Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, People's Republic of China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, People's Republic of China; The Key Laboratory of Reproductive Endocrinology (Shandong University), Ministry of Education, Jinan, People's Republic of China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, People's Republic of China; Center for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, People's Republic of China; Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, People's Republic of China.
authors.forename: Zi-Jiang
authors.initials: ZJ
authors.lastname: Chen
mesh_terms: D000026:Abortion, Habitual / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D000328:Adult; D001755:Blastocyst / Q000473:pathology*; D016022:Case-Control Studies; D002681:China; D010064:Embryo Implantation; D004624:Embryo Transfer; D047108:Embryonic Development; D005260:Female; D005307:Fertilization in Vitro / Q000009:adverse effects*; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006720:Homozygote; D006785:Hospitals, University; D006801:Humans; D007247:Infertility, Female / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology / Q000628:therapy*; D050498:Live Birth; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012307:Risk Factors; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: C490219:PLK4 protein, human; D017346:Protein Serine-Threonine Kinases
keywords: Aneuploidy; blastocyst formation; early recurrent miscarriage; infertility; rs2305957