title: Association of genetic variants in SOHLH1 and SOHLH2 with non-obstructive azoospermia risk in the Chinese population.
abstract: OBJECTIVE
  Spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1) and spermatogenesis and oogenesis specific basic helix-loop-helix 2 (SOHLH2) play essential roles for both spermatogenesis and oogenesis. The aim of this study was to evaluate the association of SOHLH1 and SOHLH2 single nucleotide polymorphisms (SNPs) with non-obstructive azoospermia (NOA) in the Chinese population.
  
  
  METHODS
  In this study, we assessed 7 single nucleotide polymorphisms (SNPs) of SOHLH1 and SOHLH2 with Sequenom iplex technology in 361 NOA cases and 368 fertile controls.
  
  
  RESULTS
  We found that the SNPs rs1328626 and rs6563386 of SOHLH2 were significantly associated with NOA risk, of which, a protective effect of minor allele T of rs1328626 on NOA (P = 0.038, odds ratio [OR] = 0.799, 95% confidence interval [CI] = 0.645-0.988) and a significantly increased risk of the SNP rs6563386 with the minor allele G to NOA (P = 0.029, OR = 1.402, 95% CI = 1.034-1.9) were observed, respectively. Our data indicated that the haplotype GC of the variants rs1328626 and rs6563386 conferred a significantly increased risk of NOA (P = 0.031, OR = 1.397, 95% CI = 1.031-1.895). Moreover, we found the genotype distribution of rs1328641 was significantly associated with testes volume in the NOA patients (P = 0.022).
  
  
  CONCLUSIONS
  The polymorphisms rs1328626 and rs6563386 of the SOHLH2 gene would be the genetic risk factors for NOA in the Chinese population. The SNP rs1328641 might influence testes development in the NOA patients.
authors.affiliation: Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China; Institute of Reproductive Medicine, Anhui Medical University, Hefei, China; Anhui Provincial Engineering Technology Research Center of Biopreservation and Artificial Organs, Hefei, China.
authors.forename: Bing
authors.initials: B
authors.lastname: Song
authors.affiliation: Department of Biology, Anhui Medical University, Hefei, China; State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Anhui Medical University, Hefei, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China; Institute of Reproductive Medicine, Anhui Medical University, Hefei, China; Anhui Provincial Engineering Technology Research Center of Biopreservation and Artificial Organs, Hefei, China.
authors.forename: Xiao-jin
authors.initials: XJ
authors.lastname: He
authors.affiliation: Department of Biology, Anhui Medical University, Hefei, China; State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Anhui Medical University, Hefei, China; Sektion Experimentelle Anaesthesiologie, Universitaetsklinikum Ulm, Ulm 780080, Germany. Electronic address: weidongdu@hotmail.com.
authors.forename: Wei-dong
authors.initials: WD
authors.lastname: Du
authors.affiliation: Reproductive Medicine Center, Yijishan Hospital of Wannan Medical University, Wuhu, China.
authors.forename: Jian
authors.initials: J
authors.lastname: Ruan
authors.affiliation: State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Anhui Medical University, Hefei, China.
authors.forename: Fu-sheng
authors.initials: FS
authors.lastname: Zhou
authors.affiliation: Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China; Institute of Reproductive Medicine, Anhui Medical University, Hefei, China; Anhui Provincial Engineering Technology Research Center of Biopreservation and Artificial Organs, Hefei, China.
authors.forename: Huan
authors.initials: H
authors.lastname: Wu
authors.affiliation: Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China; Institute of Reproductive Medicine, Anhui Medical University, Hefei, China; Anhui Provincial Engineering Technology Research Center of Biopreservation and Artificial Organs, Hefei, China.
authors.forename: Xing
authors.initials: X
authors.lastname: Zha
authors.affiliation: Department of Biology, Anhui Medical University, Hefei, China; State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Anhui Medical University, Hefei, China.
authors.forename: Xu-shi
authors.initials: XS
authors.lastname: Xie
authors.affiliation: Department of Biology, Anhui Medical University, Hefei, China; State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Anhui Medical University, Hefei, China.
authors.forename: Lei
authors.initials: L
authors.lastname: Ye
authors.affiliation: Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China; Institute of Reproductive Medicine, Anhui Medical University, Hefei, China; Anhui Provincial Engineering Technology Research Center of Biopreservation and Artificial Organs, Hefei, China.
authors.forename: Zhao-Lian
authors.initials: ZL
authors.lastname: Wei
authors.affiliation: Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China; Institute of Reproductive Medicine, Anhui Medical University, Hefei, China; Anhui Provincial Engineering Technology Research Center of Biopreservation and Artificial Organs, Hefei, China.
authors.forename: Ping
authors.initials: P
authors.lastname: Zhou
authors.affiliation: Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China; Institute of Reproductive Medicine, Anhui Medical University, Hefei, China; Anhui Provincial Engineering Technology Research Center of Biopreservation and Artificial Organs, Hefei, China. Electronic address: caoyunxia6@126.com.
authors.forename: Yun-Xia
authors.initials: YX
authors.lastname: Cao
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics; D053713:Azoospermia / Q000235:genetics*; D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics*; D002681:China; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D013091:Spermatogenesis / Q000235:genetics; D055815:Young Adult
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; C552401:SOHLH1 protein, human; C000588675:SOHLH2 protein, human
keywords: Non-obstructive azoospermia; SOHLH1; SOHLH2; Single nucleotide polymorphisms