الفهرس 
Introduction and Aim of the workOnly 14 pages are availabe for public view
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Abstract
Background and objectives: Male infertility (MI) is a condition characterized by failure of the male to make a fertile woman pregnant. About 10 to 30% of infertility is classified as idiopathic infertility. Many genetic studies exposed association between some genotypes and MI. The current study investigated the correlation between gene polymorphisms of Methylenetetrahydrofolate reductase (MTHFR) genes, Tumor necrosis factor-alpha (TNF-α-308), interleukin 1b (IL-1b) and glutathione-S-transferases GSTs (M1/T1) and MI in an Egyptian population.
Subjects and methods: We conducted a case-control study in Mansoura University Egypt .This study included 100 cases with infertility and 100 healthy controls. We used T.ARMS-PCR methods to assess the genotypes of Methylenetetrahydrofolate reductase (MTHFR) genes, Tumor necrosis factor-alpha (TNF-α-308), interleukin 1b (IL-1b) and glutathione-S-transferases GSTs (M1/T1) variants of the gene and analysis of hormones level in serum ( prolactin. E2,testestrone, FSH, LH,TSH and lInhibinB) by Elisa method.
Results: Genotypic and allelic frequencies of MTHFR*C677T (rs1801133) variant among infertile patients compared with healthy controls were significant. The expected and observed findings were in harmony with the Hardy-Weinberg equation among infertile men patients compared with healthy controls (p< 0.05). infertile patients revealed significantly increased in C/T and TT of MTHFR*C677T genotype compared with healthy controls as respectively (56.7% vs. 40% and 43% vs. 0% ) , the Dominant model (OR148.5, 95% CI 19.89-1108.4, p <0.001). the frequency of the MTHFR*C677T, T allele was significantly increased among infertile patients compared with healthy controls (71 % vs. 20%, OR152.1, 95% CI 9.19-2516.8, p< 0.001).
On the contrary, regarding the codominant and Recessive, heterozygote and homozygote models, infertile men patients indicated significantly decreased compared to healthy controls (p< 0.001). The 1298A/C polymorphism was associated with risk of male infertility ,the frequencies of homozygote genotype CC in fertile patients compared to healthy group was significantly increased to AA genotype (P < 0.001), , CA to the AA (P = 0.006), CC to the CA + AA (P < 0.001), and CC
Our results indicated the frequencies of the genotyping homozygote AA (37 % vs 5 %) for TNF-α (G>A; rs1800629) gene variant was significantly associated with an enhanced risk in infertile males versus control group (P < 0.001). The different genetic models including allelic co-dominant model of Genotyping G/G, G/A and A/A in TNF-α*(G>A; rs1800629) gene variant showed significant difference in infertile males versus control subjects (P < 0.001). Genetic models of the Codominant, Dominant and Recessive GSTS (M1/T1) genes were significant in patients versus controls (p<0.05). IL-1b showed no association with MI (p>0.05). Our founding concluded the current study might provide an evidence of correlations between TNF-α, GSTs (M1/T1) models and (GSTT1 / GSTT1) gene polymorphisms and the risk of MI among Egyptian males. There was no significant association between IL-1b (rs16944; -511C>T) and MI in this study.
Keywords: Gene polymorphism, MTHFR (677C > T; 1298A > C) Polymorphisms,TNF-α-308, IL-1b, GSTs (M1/T1), Male infertility