• PMID: 23631659
• Gene Name: PGAM4
• Condition: Non-obstructive azoospermia (NOA)
• Association: Associated
• Mutation: PGAM4 (A138C, G539A)
• Population size: 214
• Population details: 214 (103 infertile men with NOA, 111 controls)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: PGAM4
• Other associated phenotypes: Non-obstructive azoospermia (NOA)

The PGAM4 gene in non-obstructive azoospermia

Jin Q, Pan H, Wang B, Wang J, Liu T, Yu X, Jia C, Fang X, Peng Y, Ma X.

Non-obstructive azoospermia (NOA) is considered to be a severe infertility factor due to impaired spermatogenesis with the consequent absence of spermatozoa in the ejaculate. However, the underlying etiology and mechanism(s) remain elusive. The aim of this study was to investigate the mutation and association of single nucleotide polymorphisms (SNPs) of the phosphoglycerate mutase 4 (PGAM4) gene in Chinese Han infertile men with NOA. The entire coding region of PGAM4 gene was sequenced from 214 participants including 103 infertile men with NOA and 111 controls with proven fertility. Screening was carried out using PCR and DNA sequencing to identify novel mutations and SNPs of the entire coding region of PGAM4. No mutation, including A138C or G539A, was detected in the coding region of PGAM4. One novel synonymous mutation (G111A, rs20100573) in control individuals was identified. There was no significant difference between NOA patients and controls in the G75C (rs138178131) frequencies (1.9% (2/103) and 4.5% (5/111), respectively, P = 0.292 and P = 0.374, adjusted by age). PGAM4 coding region mutations were not observed and the G75C polymorphism is not associated with NOA susceptibility among the Chinese Han population. FAU - Jin, Qi AU - Jin Q AD - Institute of Reproductive Medicine, Yijishan Hospital, Wannan Medical College, Wuhu, China. FAU - Pan, Hong AU - Pan H FAU - Wang, Binbin AU - Wang B FAU - Wang, Jing AU - Wang J FAU - Liu, Tao AU - Liu T FAU - Yu, Xiaoying AU - Yu X FAU - Jia, Chao AU - Jia C FAU - Fang, Xiang AU - Fang X FAU - Peng, Yifeng AU - Peng Y