• PMID: 25399062
• Gene Name: PDCD1
• Condition: Antisperm antibody-related infertility
• Association: Patients frequencies of the G/A genotype in comparison with healthy controls were not significantly different. However, G/G and A/A genotype frequencies between patients and healthy controls were significantly different . Also, allele frequencies of this
• Mutation: G/A genotype, G/G and A/A genotype
• Population size: 145
• Population details: 145 (61 patients with antisperm antibody-related infertility and 84 healthy controls)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Antisperm antibody-related infertility

Association between a PD-1 gene polymorphism and antisperm antibody-related infertility in Iranian men

Zamani MR, Asbagh FA, Massoud AH, Salmaninejad A, Massoud A, Rezaei N.

OBJECTIVE: Programmed cell death-1 (PD-1, Pdcd1), an immunoreceptor belonging to the CD28/CTLA-4 family negatively regulates antigen receptor signalling by recruiting protein tyrosine phosphatase, SHP-2 upon interacting with either of two ligands, PD-L1 or PD-L2. This study investigates PD-1 gene polymorphism in patients with antisperm antibody-related infertility METHODS: Genotyping was performed by polymerase chain reaction and restriction enzyme digestion (PCR-RFLP), this polymorphism was genotyped in 145 Iranian subjects (61 patients with antisperm antibody-related infertility and 84 healthy controls). RESULTS: Patients frequencies of the G/A genotype in comparison with healthy controls (38.2 % vs. 32.7 %, OR =1.21, P = 0.35) were not significantly different. However, G/G and A/A genotype frequencies between patients and healthy controls were significantly different (P = 0.042, P = 0.00001, respectively). Also, allele frequencies of this polymorphism were significantly different (P = 0.0012) in patients compared to healthy controls. CONCLUSION: According to these results, there is a correlation between PD-1 gene polymorphism and susceptibility to antisperm antibody-related infertility in our study group. FAU - Zamani, Mohammad Reza AU - Zamani MR AD - Department of Immunology and Biology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran, mr-zamani@razi.tums.ac.ir. FAU - Asbagh, Firouzeh Akbari AU - Asbagh FA FAU - Massoud, Amir Hossein AU - Massoud AH FAU - Salmaninejad, Arash AU - Salmaninejad A FAU - Massoud, Ahmad AU - Massoud A