• PMID: 22574365
• Gene Name: PRM1
• Condition: Tetrazoospermia
• Association: Associated
• Mutation: PRM1(-190C- > A, rs2301365)
• Population size: 194
• Population details: 194 (157 infertile men with teratozoospermia (case group), 37 age-matched male volunteers (control group))
• Sex: Male
• Infertility type: Male infertility
• Associated genes: PRM1
• Other associated phenotypes: Tetrazoospermia

[Association of PRM1-190C- > A polymorphism with teratozoospermia]

Yu QF, Yang XX, Li FX, Ye LW, Wu YS, Mao XM.

OBJECTIVE: To investigate the association of single nucleotide polymorphism (SNP) of the Protamine 1 (PRM1) gene in infertile men with teratozoospermia. METHODS: We collected semen samples from 157 infertile men with teratozoospermia (case group) and 37 age-matched male volunteers (control group), and subjected them to morphological analysis. We extracted genome DNA, genotyped the polymorphism of the PRM1-190C- > A SNP (rs2301365) using the Sequenom MassARRAY system, compared the genotype frequencies between the case and control groups, and analyzed the sperm morphological parameters of different genotypes in the infertile males with teratozoospermia. RESULTS: The frequencies of the genotypes CC, CA and AA were 38.9% (61), 44.6% (70) and 16.6% (26) in the case group, as compared with 45.9% (17), 51.4% (19) and 2.7% (1) in the control, with that of AA significantly higher in the patients than in the volunteers (P<0.05). The frequencies of the alleles C and A were 57.6% and 42.4% in the former, with no significant differences from 71.6% and 28.4% in the latter (P>0.05). Nor were any statistically significant differences observed in sperm morphology parameters between the genotype CC and CA, AA and CA + AA in the male patients (P>0.05). CONCLUSION: The SNP of PRM1-190C- > A might be associated with teratozoospermia-induced male infertility in the Han Chinese. Although this SNP may attribute to abnormal sperm morphology, the targeted part of sperm remains unclear. FAU - Yu, Qing-Feng AU - Yu QF AD - Department of Urology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong 510515, China. FAU - Yang, Xue-Xi AU - Yang XX FAU - Li, Fen-Xia AU - Li FX FAU - Ye, Lu-Wei AU - Ye LW FAU - Wu, Ying-Song AU - Wu YS