• PMID: 25463635
• Gene Name: SOHLH2
• Condition: Non-obstructive azoospermia (NOA)
• Association: Associated
• Mutation: SOHLH2 (rs1328626, rs6563386)
• Population size: 729
• Population details: 729 (361 non-obstructive azoospermia (NOA) cases and 368 fertile controls)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: SOHLH1, SOHLH2
• Other associated phenotypes: Non-obstructive azoospermia (NOA)

Association of genetic variants in SOHLH1 and SOHLH2 with non-obstructive azoospermia risk in the Chinese population

Song B, Zhang Y, He XJ, Du WD, Ruan J, Zhou FS, Wu H, Zha X, Xie XS, Ye L, Wei ZL, Zhou P, Cao YX.

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. STUDY DESIGN: 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. CI - Copyright © 2014 Elsevier Ireland Ltd. All rights reserved. FAU - Song, Bing AU - Song B AD - 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. FAU - Zhang, Yan AU - Zhang Y AD - 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. FAU - He, Xiao-jin AU - He XJ AD - 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. FAU - Du, Wei-dong AU - Du WD AD - 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. FAU - Ruan, Jian AU - Ruan J AD - Reproductive Medicine Center, Yijishan Hospital of Wannan Medical University, Wuhu, China. FAU - Zhou, Fu-sheng AU - Zhou FS AD - State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Anhui Medical University, Hefei, China. FAU - Wu, Huan AU - Wu H AD - 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. FAU - Zha, Xing AU - Zha X AD - 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. FAU - Xie, Xu-shi AU - Xie XS AD - 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. FAU - Ye, Lei AU - Ye L AD - 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. FAU - Wei, Zhao-Lian AU - Wei ZL AD - 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. FAU - Zhou, Ping AU - Zhou P AD - 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.