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'); Reports of Biochemistry and Molecular Biology rbmb.net Basic Sciences http://rbmb.net 1 admin 2322-3480 2322-3480 10.61882/rbmb en jalali 1404 5 1 gregorian 2025 8 1 14 2 online 1 fulltext
en Association of UCP2 G (-866) A Polymorphism, but not NAT2 G (590) A, with Presbycusis Susceptibility in an Iranian Population زیست شناسی ملکولی Molecular Biology مقالات اصلی Original Article <div style="text-align: justify;"><span style="font-size:10pt"><span style="text-justify:kashida"><span style="text-kashida:0%"><span style="line-height:normal"><span style="tab-stops:396.55pt"><span style="font-family:Calibri,sans-serif"><b><i><span lang="EN-GB" style="font-size:12.0pt"><span style="font-family:&quot;Times New Roman&quot;,serif"><span style="color:black"><span style="letter-spacing:-.4pt">Background:</span></span></span></span></i></b> <span style="font-size:12.0pt"><span style="font-family:&quot;Times New Roman&quot;,serif"><span style="color:black"><span style="letter-spacing:-.2pt">Presbycusis, or age-related hearing loss, is a common sensory disorder in older adults. Oxidative stress is a major pathogenic mechanism, and polymorphisms in genes regulating detoxification and reactive oxygen species (ROS) balance, such as <i>NAT2</i> and <i>UCP2</i>, may influence disease susceptibility.</span></span></span></span></span></span></span></span></span></span><br> <br> <span style="font-size:10pt"><span style="text-justify:kashida"><span style="text-kashida:0%"><span style="line-height:normal"><span style="tab-stops:396.55pt"><span style="font-family:Calibri,sans-serif"><b><i><span style="font-size:12.0pt"><span style="font-family:&quot;Times New Roman&quot;,serif"><span style="color:black"><span style="letter-spacing:-.2pt">Methods:</span></span></span></span></i></b><span style="font-size:12.0pt"><span style="font-family:&quot;Times New Roman&quot;,serif"><span style="color:black"><span style="letter-spacing:-.2pt"> We conducted a case&ndash;control study including 120 male presbycusis patients (mean age 65.1 years) and 120 age-matched healthy controls (mean age 63.4 years). Genotyping of the <i>NAT2</i> 590G>A (rs1799930) and <i>UCP2</i> G (-866) A (rs659366) polymorphisms was performed using PCR-RFLP. Statistical analyses included odds ratios (ORs) with 95% confidence intervals (CIs), logistic regression, and Hardy&ndash;Weinberg equilibrium testing. Bioinformatics tools (including the UCSC Genome Browser, ORegAnno, and CpG island analysis) were used to predict the functional effects of variants.</span></span></span></span></span></span></span></span></span></span><br> <br> <span style="font-size:10pt"><span style="text-justify:kashida"><span style="text-kashida:0%"><span style="line-height:normal"><span style="tab-stops:396.55pt"><span style="font-family:Calibri,sans-serif"><b><i><span style="font-size:12.0pt"><span style="font-family:&quot;Times New Roman&quot;,serif"><span style="color:black"><span style="letter-spacing:-.2pt">Results:</span></span></span></span></i></b><span style="font-size:12.0pt"><span style="font-family:&quot;Times New Roman&quot;,serif"><span style="color:black"><span style="letter-spacing:-.2pt"> No significant association was observed between <i>NAT2</i> 590G>A and presbycusis risk (OR = 1.22, 95% CI = 0.84&ndash;1.79, p = 0.289). In contrast, the UCP2 G(-866)A polymorphism showed a strong association: the AA genotype (OR = 3.20, 95% CI = 1.22&ndash;8.41, p = 0.018), A allele (OR = 1.68, 95% CI = 1.14&ndash;2.47, p = 0.008), and dominant GA+AA vs. GG model (OR = 1.84, 95% CI = 1.10&ndash;3.08, p = 0.02). Bioinformatics analysis indicated that the polymorphism may alter CpG islands in the promoter region and may could affect transcription factor binding and gene expression.</span></span></span></span></span></span></span></span></span></span><br> <br> <span style="font-size:10pt"><span style="text-justify:kashida"><span style="text-kashida:0%"><span style="line-height:normal"><span style="tab-stops:396.55pt"><span style="font-family:Calibri,sans-serif"><b><i><span style="font-size:12.0pt"><span style="font-family:&quot;Times New Roman&quot;,serif"><span style="color:black"><span style="letter-spacing:-.2pt">Conclusion:</span></span></span></span></i></b><span style="font-size:12.0pt"><span style="font-family:&quot;Times New Roman&quot;,serif"><span style="color:black"><span style="letter-spacing:-.2pt"> Our findings suggest that the <i>UCP2</i> G (-866) A polymorphism, but not <i>NAT2 </i>590G>A polymorphism, contributes to presbycusis susceptibility in the studied Iranian population. This variant could serve as a potential biomarker for the genetic risk assessment of presbycusis.</span></span></span></span></span></span></span></span></span></span></div> Age-Related, Arylamine N-Acetyltransferase, Genetic, Hearing Loss, Polymorphism, Presbycusis, Uncoupling Protein 206 214 http://rbmb.net/browse.php?a_code=A-10-1889-1&slc_lang=en&sid=1 Faezeh Karimnia 100319475328460022532 100319475328460022532 No Department of Biology, Faculty of Science, Gonbad Kavous University, Gonbad, Iran. Omid Jazayeri o.jazayeri@umz.ac.ir 100319475328460022533 100319475328460022533 Yes Department of Molecular and cell Biology, Faculty of Science, University of Mazandaran, Babolsar, Iran. Mohammad Karimian 100319475328460022534 100319475328460022534 No Department of Molecular and cell Biology, Faculty of Science, University of Mazandaran, Babolsar, Iran. Eisa Jorjani 100319475328460022535 100319475328460022535 No Department of Biology, Faculty of Science, Gonbad Kavous University, Gonbad, Iran.