{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["14"],"submitter":["Kaur M"],"funding":["Indian Council of Medical Research"],"pubmed_abstract":["Many studies have been performed to explore the role of xenobiotic metabolizing gene variants and male infertility risk. However, the results remain inconclusive and contradictory. Therefore, the objective of the present study was to investigate the association among 16 genes and its 24 variants (<i>CAT</i> rs1001179, rs7943316, <i>SOD2</i> rs4880<i>, GPX1</i> rs1050450<i>, CYP1A1</i> rs1048943, rs4646903<i>, GSTP1</i> rs1695<i>, MTHFR</i> rs1801133, rs1801131, rs2274976, rs2066472, <i>MTHFD1</i> rs2236225<i>, MTRR</i> rs1801394<i>, CYP2D6</i> rs3892097<i>, PON1</i> rs854560, rs662<i>, PON2</i> rs7493<i>, NAT2</i> rs1799930<i>, NRF2</i> rs6721961<i>, AHR</i> rs2066853, rs1476080, rs6960165, null <i>GSTM1, null GSTT1</i>) involved in xenobiotic metabolism and their correlation with male infertility. A literature search was done using PubMed, Google Scholar, and Science Direct. Meta-analysis was conducted using Review Manager 5.3 software. Genotype-tissue expression (GTEx) portal and RegulomDB were used to determine genotype and tissue expression. Pathogenicity of significant gene variants was determined using I-Mutant 2.0, PolyPhen 2, SNP & GO, SIFT, and CADD tools. A total of 106 studies were selected for the present study to analyze 16 genes and their variants. <i>SOD2</i> rs4880, <i>CYP1A1</i> rs4646903, <i>MTHFR</i> rs1801133, rs1801131, rs2274976, <i>PON1</i> rs854560, <i>NRF2</i> rs6721961, and null <i>GSTM1</i> gene variants are associated with increased risk of male infertility. <i>SOD2</i> rs4880 and <i>MTHFR</i> rs1801133, rs1801131, rs2274976 are found to decrease the stability of the protein. However, no significant association was observed between <i>CAT</i> rs1001179, rs7943316, <i>GPX1</i> rs1050450, <i>CYP1A1</i> rs1048943,<i>GSTP1</i> rs1695,<i>MTHFR</i> rs2066472, <i>MTHFD1</i> rs2236225, <i>MTRR</i> rs1801394, <i>CYP2D6</i> rs3892097, <i>PON1</i> rs662, <i>PON2</i> rs7493, <i>NAT2</i> rs1799930, <i>AHR</i> rs2066853, rs1476080, rs6960165, null <i>GSTT1</i> gene polymorphisms and the risk of male infertility."],"journal":["Toxicology reports"],"pagination":["102019"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12017983"],"repository":["biostudies-literature"],"pubmed_title":["Xenobiotic metabolizing gene variants and the risk of male infertility - A systematic review, meta-analysis and &lt;i&gt;in silico&lt;/i&gt; analysis."],"pmcid":["PMC12017983"],"pubmed_authors":["Kapoor HS","Rahman T K S","Khetarpal P","Goyal LD","Kaur M","Kaur R","Dolma S"],"additional_accession":[]},"is_claimable":false,"name":"Xenobiotic metabolizing gene variants and the risk of male infertility - A systematic review, meta-analysis and &lt;i&gt;in silico&lt;/i&gt; analysis.","description":"Many studies have been performed to explore the role of xenobiotic metabolizing gene variants and male infertility risk. However, the results remain inconclusive and contradictory. Therefore, the objective of the present study was to investigate the association among 16 genes and its 24 variants (<i>CAT</i> rs1001179, rs7943316, <i>SOD2</i> rs4880<i>, GPX1</i> rs1050450<i>, CYP1A1</i> rs1048943, rs4646903<i>, GSTP1</i> rs1695<i>, MTHFR</i> rs1801133, rs1801131, rs2274976, rs2066472, <i>MTHFD1</i> rs2236225<i>, MTRR</i> rs1801394<i>, CYP2D6</i> rs3892097<i>, PON1</i> rs854560, rs662<i>, PON2</i> rs7493<i>, NAT2</i> rs1799930<i>, NRF2</i> rs6721961<i>, AHR</i> rs2066853, rs1476080, rs6960165, null <i>GSTM1, null GSTT1</i>) involved in xenobiotic metabolism and their correlation with male infertility. A literature search was done using PubMed, Google Scholar, and Science Direct. Meta-analysis was conducted using Review Manager 5.3 software. Genotype-tissue expression (GTEx) portal and RegulomDB were used to determine genotype and tissue expression. Pathogenicity of significant gene variants was determined using I-Mutant 2.0, PolyPhen 2, SNP & GO, SIFT, and CADD tools. A total of 106 studies were selected for the present study to analyze 16 genes and their variants. <i>SOD2</i> rs4880, <i>CYP1A1</i> rs4646903, <i>MTHFR</i> rs1801133, rs1801131, rs2274976, <i>PON1</i> rs854560, <i>NRF2</i> rs6721961, and null <i>GSTM1</i> gene variants are associated with increased risk of male infertility. <i>SOD2</i> rs4880 and <i>MTHFR</i> rs1801133, rs1801131, rs2274976 are found to decrease the stability of the protein. However, no significant association was observed between <i>CAT</i> rs1001179, rs7943316, <i>GPX1</i> rs1050450, <i>CYP1A1</i> rs1048943,<i>GSTP1</i> rs1695,<i>MTHFR</i> rs2066472, <i>MTHFD1</i> rs2236225, <i>MTRR</i> rs1801394, <i>CYP2D6</i> rs3892097, <i>PON1</i> rs662, <i>PON2</i> rs7493, <i>NAT2</i> rs1799930, <i>AHR</i> rs2066853, rs1476080, rs6960165, null <i>GSTT1</i> gene polymorphisms and the risk of male infertility.","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Jun","modification":"2026-07-03T03:24:57.024Z","creation":"2026-07-03T03:15:53.988Z"},"accession":"S-EPMC12017983","cross_references":{"pubmed":["40271533"],"doi":["10.1016/j.toxrep.2025.102019"]}}