• PMID: 24083421
• Gene Name: KITLG
• Condition: Oligospermia
• Association: These findings indicated that SNP rs3819392 in KIT gene and rs4474514 in KITLG gene may be associated with oligospermia, suggesting that polymorphism of KIT and KITLG genes may play a role in oligospermia.
• Mutation: rs3819392 in KIT, rs995030 and rs4474514 in KITLG
• Population size: 577
• Population details: 577 ( 372 patients with idiopathic azoospermia or oligospermia, 205 fertile controls)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: KIT, KITLG
• Other associated phenotypes: Oligospermia

SNPs in KIT and KITLG genes may be associated with oligospermia in Chinese population

Cheng P, Chen H, Liu SR, Pu XY, A ZC.

KIT/KITLG signaling system is crucial for spermatogenesis, which suggests that KIT and KITLG genes may be involved in spermatogenesis impairment and male infertility. To explore the possible association of KIT and KITLG genes with male infertility having spermatogenesis impairment, polymorphism distributions of SNP rs3819392 in KIT gene as well as rs995030 and rs4474514 in KITLG gene were investigated in 372 patients with idiopathic azoospermia or oligospermia and 205 fertile controls. As a result, the significant differences in polymorphism distributions of SNP rs3819392 in KIT gene and rs4474514 in KITLG gene were observed between the patients with oligospermia and controls. The frequencies of allele G (94.2% versus 90.0% p = 0.022) and genotype GG (89.2% versus 82.0% p = 0.042) in patients with oligospermia were significantly higher than those in controls at rs3819392 locus in KIT gene. In addition, the genotype CC of rs4474514 in KITLG (8.2% versus 3.4%, p = 0.034) also significantly increased in oligospermic patients in comparison to controls. These findings indicated that SNP rs3819392 in KIT gene and rs4474514 in KITLG gene may be associated with oligospermia, suggesting that polymorphism of KIT and KITLG genes may play a role in oligospermia. FAU - Cheng, Pan AU - Cheng P AD - Department of Genetics, College of Agriculture and Biology and. FAU - Chen, Hui AU - Chen H FAU - Liu, Shuo-Ran AU - Liu SR FAU - Pu, Xiao-Ying AU - Pu XY