The PGAM4 gene in non-obstructive azoospermia

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.