Abstract
The aim of the study was to investigate the association between the GSTM1 and GSTT1 gene deletion and MTHFR C677T mutation and male infertility. The study has encompassed 52 infertile and 56 fertile males. Genotype distributions of GSTM1 and GSTT1 gene deletions and the MTHFR C677T mutation did not differ significantly among the analyzed groups, however, a difference in distribution of certain genotype combinations was observed. The obtained results indicate that carriers of double GSTM1/GSTT1 deletion and the MTHFR 677CC genotype are at higher risk of infertility than carriers of any other combination of genotypes (OR 3.5, 95%CI 0.68-18.30). .
Highlights
Male infertility is a heterogeneous disorder, with various genetic and environmental factors that contribute to the impairment of spermatogenesis
Detection of GSTM1 deletion, GSTT1 deletion and methylenetetrahydrofolate reductase (MTHFR) C677T mutation was performed in 52 infertile men and 56 fertile men as control group
Deletion of the GSTM1 gene was detected in 29 patients (56%) and in 27 controls (48%), while the GSTT1 gene was deleted in 20 patients (38%) and in 15 controls (27%). (Table 1)
Summary
Male infertility is a heterogeneous disorder, with various genetic and environmental factors that contribute to the impairment of spermatogenesis. The best characterized genetic causes of male infertility still remain microdeletions in the AZF (azoospermia factors) region of the Y chromosome and some mutations in the CFTR gene (Sertic et al, 2001, Poongothai et al, 2009). Over the past couple of decades molecular genetics has discovered a large number of genes for which it has been proposed that, if mutated or deleted, can cause pathological changes in male reproductive system (Vogt et al, 2004, Tüttelmann et al, 2007). One of the most important mechanisms involved in the homeostasis of male reproductive tissue is protection from oxidative stress, which male germ cells are highly susceptible to (Rao and Shaha, 2000, Schuppe et al, 2000, Baker and Aitken, 2004). The possible role in male infertility has been already suggested for these two gene variants, but published data are inconsistent (Chen et al, 2002, Aydos SE et al, 2009, Aydemir et al, 2007)
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