Abstract
<p><strong>Background and Objective:</strong> Ongoing research suggests that cytochrome P4501A1 (CYP1A1) 3801T &gt; C polymorphism may be correlated with human male infertility but the reported results are conflicting. Hence, this case-control study was conducted in Algerian population to determine the frequency of this polymorphism and its relationship to male infertility.<br /><strong>Methods:</strong> This study included 173 subjects grouped into two categories: controls (84) and patients (89) with abnormal semen analysis parameters. Genomic DNA from the patients and controls was extracted and PCR-restriction fragment length polymorphism was used to genotype the 3801T &gt; C CYP1A1 polymorphism.<br /><strong>Results:</strong> In the control group, the frequency of homozygous wild-type TT, heterozygous TC, and mutant homozygous CC genotypes of the CYP1A1 T &gt; C polymorphism was 84.52%, 13.10%, and 2.38%, respectively, while infertile men had 77.53%, 20.22%, and 2.25%, respectively. There was no correlation between the 3801T &gt; C CYP1A1 variant and male infertility. Furthermore, the rs4646903 C allele was not a risk factor in the dominant genetic model.<br /><strong>Conclusion:</strong> The 3801T &gt; C polymorphism cannot be considered as a risk factor for male infertility in Algerian population. Our results need to be validated and confirmed through prospective studies with a larger number of patients.</p>
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Highlights
The World Health Organization (WHO) estimates that male infertility accounts for about half of all infertility cases and affects 9% of couples worldwide [1]
Cytochrome P4501A1 (CYP1A1) gene is positioned on chromosome 15q22-q24, encodes a 512 amino acid protein and it is expressed in the liver, gastrointestinal tract, lymphocytes, and testicular tissue [6]
CYP1A1 is implicated in the synthesis of endogenous substrates including steroid hormones, and the variant may be linked to the production of highly reactive electrophilic intermediates that could damage DNA in the meiotic division during spermatogenesis, diminish semen quality and lead to male infertility [9]
Summary
The World Health Organization (WHO) estimates that male infertility accounts for about half of all infertility cases and affects 9% of couples worldwide [1]. The etiologies of this disorder are the product of a complex gene-gene and/or gene-environment interaction [2]. CYP1A1 is implicated in the synthesis of endogenous substrates including steroid hormones, and the variant may be linked to the production of highly reactive electrophilic intermediates that could damage DNA in the meiotic division during spermatogenesis, diminish semen quality and lead to male infertility [9]
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