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Leptin and leptin-receptor polymorphisms in fertile and infertile men
Authors:Saeid Khosropour  Maryam Hamidi  Amir Fattahi  Iraj Khodadadi  Manoochehr Karami  Mohammad Fazilati
Affiliation:1. Department of Biochemistry, School of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran;2. Department of Biology, Payam-e Noor University, Isfahan, Iran;3. Women’s Reproductive Health Research Center, Tabriz University of Medical Sciences, Tabriz, Iran;4. Social Determinants of Health Research Center and Department of Epidemiology, School of Public Health, Hamadan University of Medical Sciences, Hamadan, Iran
Abstract:The association of leptin (LEP) -2548G/A and/or leptin receptor (LEPR) Gln223Arg polymorphisms with male infertility and plasma FSH, LH, and testosterone (T) levels was examined. The genotypes and allele frequency distributions of LEP -2548G/A and LEPR Gln223Arg polymorphisms were investigated in 150 fertile and 150 infertile men by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Also, plasma levels of FSH, LH, and T were measured using commercial ELISA kits. Frequencies of AA, AG and GG genotypes of LEP-2548G/A polymorphism were statistically different in fertile and infertile men (p=0.012). The AG genotype showed a protective effect which could decrease risk of male infertility about 3 fold (p = 0.004). We did not observe any differences in frequencies of LEPR Gln223Arg alleles and genotypes between groups (p > 0.05). Sperm counts from infertile men with the AG and GG genotypes of the LEP polymorphism were significantly higher than AA genotype (p<0.05). Moreover, infertile men who carried the RR genotype of LEPR showed a statistically higher percentage of sperm with progressive motility than individuals with other genotypes (p = 0.004). There was no correlation between different combinations of LEP and LEPR genotypes and LH, FSH, and T levels (p > 0.05). Our study suggests that the LEP -2548G/A polymorphism may play a role in male fertility and the AG genotype may have a protective effect through increasing sperm counts. The distribution of genotypes of LEP -2548G/A polymorphism are different in fertile and infertile males and may be a useful tool in evaluation of male infertility.

Abbreviations: LEP: leptin; LEPR: leptin receptor; T: testosterone; FSH: follicle-stimulating hormone; LH: luteinizing hormone

Keywords:Genetic polymorphism  infertility  leptin  leptin receptor  male  reproduction
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