• PMID: 26663067
• Gene Name: GSTK1
• Condition: Idiopathic male infertility
• Association: The rs28368082 polymorphism of the SPO11 gene, the A>G transition at nucleotide 313 in the exon 5 of the GSTP1 gene, and the combined genotypes of GSTM1 (-/-), GSTT1 (+/+), GSTP1 (AA) and SPO11 (CT) may be associated with idiopathic male infertility in et
• Mutation: SPO11 c.517C>T(rs28368082) and GST genes (GSTM1, GSTT1, GSTP1) polymorphisms
• Population size: 414
• Population details: 414 (216 idiopathic male infertility cases, 198 normal samples)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Idiopathic male infertility

[Association of SPO11 and GST gene polymorphisms with idiopathic male infertility in ethnic Han Chinese]

Feng Z, Jing Z, Liu H, Liao S, Guo L, Mao C, Liu Y, Wu H, Gao J.

OBJECTIVE: To explore the possible roles of polymorphisms of SPO11 and glutathionine S-transferase (GST) genes in idiopathic male infertility in a ethnic Han Chinese population from Henan. METHODS: Multiplex PCR and DNA sequencing were performed to determine the SPO11 c.517C>T(rs28368082) and GST genes (GSTM1, GSTT1, GSTP1) polymorphisms in 216 idiopathic male infertility cases and 198 normal samples. RESULTS: The frequencies of the SPO11 CC and CT genotypes were 87.5% (189/216) and 12.5% (27/216) in the patients, and 97.5% (193/198) and 2.5% (5/198) in the controls, respectively. The frequencies of SPO11 CC and CT genotypes, the A>G transition at nucleotide 313 in the exon 5 of the GSTP1 gene, and the frequencies of combined genotypes GSTM1 (-/-), GSTT1 (+/+), GSTP1 (AA) and SPO11 (CT) were significantly different between the two groups (P<0.05). CONCLUSION: The rs28368082 polymorphism of the SPO11 gene, the A>G transition at nucleotide 313 in the exon 5 of the GSTP1 gene, and the combined genotypes of GSTM1 (-/-), GSTT1 (+/+), GSTP1 (AA) and SPO11 (CT) may be associated with idiopathic male infertility in ethnic Han Chinese. FAU - Feng, Zhanqi AU - Feng Z AD - Department of Urology, The First People's Hospital of Zhengzhou, Zhengzhou, Henan 450004, P.R. China. fengzhanqi448590@sina.com. FAU - Jing, Zhian AU - Jing Z FAU - Liu, Hongyan AU - Liu H FAU - Liao, Shixiu AU - Liao S FAU - Guo, Liangjie AU - Guo L FAU - Mao, Changqing AU - Mao C FAU - Liu, Yanjun AU - Liu Y FAU - Wu, Hui AU - Wu H