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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 Reduced Oral Squamous Cell Carcinoma Risk Associated with MLH1 rs63749795 Polymorphism in the Dominant Genetic Model 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">Oral squamous cell carcinoma (OSCC) represents the predominant form of cancer affecting the oral cavity, accounting for more than 90% of all oral malignancies.</span></span></span></span><b> </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">Despite advancements in treatment, the five-year survival rate has remains relatively unchanged, primarily due to late-stage diagnosis. This study aimed to evaluate the genetic variation in <i>MutL homolog 1 (MLH1)</i> (rs63749795) in patients with OSCC.</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><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">:</span></span></span></span></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"> A cross-sectional case-control study was performed, including a total of 102 patients diagnosed with OSCC and 100 healthy individuals serving as controls. Genotyping of the <i>MLH1</i> rs63749795 polymorphism was performed using tetra-primer amplification refractory mutation system-polymerase chain reaction (TP-ARMS-PCR) method, followed by agarose gel electrophoresis.</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><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">:</span></span></span></span></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"> The predominant genotype observed in both OSCC patients and healthy controls was the CT genotype, with respective frequencies of 45.1% and 55%. The least frequent genotype in both groups was TT, with frequencies of 12.7% in patients and 17% in controls. Most patients were in tumor grade 1 (70.96%) and tumor stage III (35.8%). Among the patients, 53.3%</span></span></span></span><b> </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">showed lymph node involvement. No statistically significant associations were observed between clinicopathological features and genotypes (P>0.05). The allele frequencies of <i>MLH1</i> rs63749795 did not differ significantly between patients and controls. However, the rs63749795 polymorphism was associated with reduced OSCC susceptibility under the dominant genetic model (OR&nbsp;= 0.53, 95% CI&nbsp;= 0.29-0.96, P&nbsp;= 0.03 for CT+TT vs. CC genotype).</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">Conclusions</span></span></span></span></i></b><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">:</span></span></span></span></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"> The <i>MLH1</i> rs63749795 polymorphism may be associated with reduced susceptibility to OSCC under the dominant genetic model; however, although further studies involving larger populations are needed.</span></span></span></span></span></span></span></span></span></span></div> DNA Repair, MLH1, Oral Cancer, Polymorphism. 215 222 http://rbmb.net/browse.php?a_code=A-10-1320-3&slc_lang=en&sid=1 Razieh Zare 100319475328460022536 100319475328460022536 No 1: Department of Oral and Maxillofacial Pathology, School of Dentistry, Shiraz University of Medical Sciences, Shiraz, Iran. Mohammad Javad Mokhtari mj.mokhtari@iau.ac.ir. 100319475328460022537 100319475328460022537 Yes Department of Biology, Zarg.C., Islamic Azad University, Zarghan, Iran. Mohammad Javad Fattahi 100319475328460022538 100319475328460022538 No Shiraz Institute for Cancer Research, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran. Nazanin Mohammadi 100319475328460022539 100319475328460022539 No Student Research Committee, School of Dentistry, Shiraz University of Medical Sciences, Shiraz, Iran. Bijan Khademi 100319475328460022540 100319475328460022540 No Department of Otolaryngology, Khalili Hospital, Shiraz Institute for Cancer Research, Shiraz University of Medical Sciences, Shiraz, Iran.