• PMID: 26160076
• Gene Name: HSPA1L
• Condition: Primary infertility
• Association: Infertility in males with normal sperm parameters was not significantly associated with HSPA1B:c.1059G>A and HSPA1L:c.1478C>T gene polymorphisms. Further prospective studies with larger sample sizes and different gene groups are required to clarify the is
• Mutation: HSPA1B gene (NM_005346.4, GI: 3304):c.1059G>A, (PstI G>A; dbSNP: rs1061581G>A) and HSPA1L gene (NM_005527.3, GI: 3305) c.1478C>T (NcoIC>T, dbSNP: rs2227956)
• Population size: 140
• Population details: 140 (68 were infertile cases, 72 fertile controls)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: HSPA1B, HSPA1L
• Other associated phenotypes: Primary infertility

Genetic polymorphisms of hspa1b and hspa1l in infertile men

Ciftci H, Celepkolo B, Dilmec F, Köksal M, Yeni E, Yagmur I, Gümüs K.

OBJECTIVE: To investigate the relationship between the HSP 70 genepolymorphism and primary infertility in males with normal sperm-parameters. METHODS: The case-control study was conducted in Sanliurfa, Turkey, from September 2010 to August 2011and comprised infertile males as cases and healthy fertile controls. Deoxyribonucleicacid was isolated from the blood of both groups, and polymorphisms of the HSPA1B gene (NM_005346.4, GI: 3304):c.1059G>A, (PstI G>A; dbSNP: rs1061581G>A) and HSPA1L gene (NM_005527.3, GI: 3305) c.1478C>T (NcoIC>T, dbSNP: rs2227956) were analysed with polymerase chain reaction-restriction fragment length polymorphism technique. SPSS version 11.5 was used for statistical analysis. RESULTS: Of the 140males in the study, 68(28.5%) were infertile cases and 72(51.4%) fertile controls. There was no statistically significant difference between GA (heterozygous) and AA (homozygous, polymorphic) genotypes of the c.1059G>A polymorphic point of the HSPA1B gene or between the A allele of the cases and controls (p>0.05). There was no statistically significant difference between the CT (heterozygote) and TT (homozygous, polymorphic) genotypes of the c.1478C>T polymorphic area of the HSPA1Lgene or between the T alleles of the cases and the controls (p>0.05). CONCLUSIONS: Infertility in males with normal sperm parameters was not significantly associated with HSPA1B:c.1059G>A and HSPA1L:c.1478C>T gene polymorphisms. Further prospective studies with larger sample sizes and different gene groups are required to clarify the issue. FAU - Ciftci, Halil AU - Ciftci H AD - Department of Urology, Harran University, Sanliurfa, Turkey. FAU - Celepkolo, Bulent AU - Celepkolo B AD - Department of Urology, Harran University, Sanliurfa, Turkey. FAU - Dilmec, Fuat AU - Dilmec F AD - Department of Medical Biology, Harran University, Sanliurfa, Turkey. FAU - Köksal, Mete AU - Köksal M AD - Department of Histology and Embryology, Harran University, Sanliurfa, Turkey. FAU - Yeni, Ercan AU - Yeni E AD - Department of Urology, Harran University, Sanliurfa, Turkey. FAU - Yagmur, Ismail AU - Yagmur I AD - Department of Pathology, Erzurum Region Education and Research Hospital, Erzurum, Turkey.