fa همراهی ژن ERCC5 (SNP: rs2296147 T>C) با استعداد ابتلا به سرطان پستان در شمال‌غرب ایران ژنتیک Genetics مقاله پژوهشی Original Article <span style="font-size:11pt"><span style="line-height:normal"><span style="direction:rtl"><span style="unicode-bidi:embed"><span calibri="" style="font-family:"><span lang="AR-SA" style="font-size:10.0pt"><span b="" lotus="" style="font-family:">ژن </span></span><a><i><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">ERCC5</span></span></i></a>&nbsp;<span lang="FA" style="font-size:8.0pt"><span b="" lotus="" style="font-family:">&nbsp;</span></span><span dir="LTR" style="font-size:8.0pt"><span new="" roman="" style="font-family:" times=""> </span></span><span lang="AR-SA" style="font-size:10.0pt"><span b="" lotus="" style="font-family:">از اجزای کلیدی مسیر </span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">NER</span></span><span lang="AR-SA" style="font-size:10.0pt"><span b="" lotus="" style="font-family:"> است و یک اندونوکلئاز کلیدی را کد می&shy;کند. در این پژوهش همراهی چندشکلی </span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">rs2296147 T>C </span></span><span style="font-size:10.0pt"><span b="" lotus="" style="font-family:">&nbsp;ژن </span></span><i><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">ERCC5</span></span></i><span lang="AR-SA" style="font-size:10.0pt"><span b="" lotus="" style="font-family:"> با استعداد ابتلا به سرطان پستان در قالب مطالعه مورد-شاهدی و </span></span><span lang="FA" style="font-size:10.0pt"><span b="" lotus="" style="font-family:">بر روی</span></span><span lang="AR-SA" style="font-size:10.0pt"><span b="" lotus="" style="font-family:"> جامعه آماری متشکل از 100 زن مبتلا به سرطان پستان و 100 فرد سالم با تکنیک </span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">Tetra-ARMS PCR</span></span><span lang="AR-SA" style="font-size:10.0pt"><span b="" lotus="" style="font-family:"> مورد بررسی قرار گرفت. تجزیه و تحلیل داده&shy;های حاصل با استفاده از برنامه‌ی آماری آنلاین </span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">javastat</span></span><span style="font-size:10.0pt"><span b="" lotus="" style="font-family:"> و نرم‌افزار </span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">SPSS</span></span><span style="font-size:10.0pt"><span b="" lotus="" style="font-family:"> نسخه‌ی 26 انجام ‌شد.</span></span><b> </b><span lang="AR-SA" style="font-size:10.0pt"><span b="" lotus="" style="font-family:">فراوانی ژنوتیپ&shy;های </span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">CC</span></span><span lang="AR-SA" style="font-size:10.0pt"><span b="" lotus="" style="font-family:"> ، </span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">TC</span></span><span lang="AR-SA" style="font-size:10.0pt"><span b="" lotus="" style="font-family:"> و </span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">TT</span></span><span lang="AR-SA" style="font-size:10.0pt"><span b="" lotus="" style="font-family:"> در بیماران به ترتیب 46/11، 33/58 و 21/30 درصد و فراوانی آن&shy;ها در افراد کنترل به ترتیب 22، 44 و 34 درصد بود. تجزیه&shy;های آماری نشان دهنده همراهی معنی&shy;دار ژنوتیپ&shy;های </span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">CC</span></span><span lang="AR-SA" style="font-size:10.0pt"><span b="" lotus="" style="font-family:"> (0</span></span><span lang="FA" style="font-size:10.0pt"><span b="" lotus="" style="font-family:">49</span></span><span lang="AR-SA" style="font-size:10.0pt"><span b="" lotus="" style="font-family:">/0 =</span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">P-value</span></span><span lang="AR-SA" style="font-size:10.0pt"><span b="" lotus="" style="font-family:">) (007/1- 209/0=</span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">, CI 95% </span></span><span lang="AR-SA" style="font-size:10.0pt"><span b="" lotus="" style="font-family:">459/0=</span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">OR</span></span><span lang="AR-SA" style="font-size:10.0pt"><span b="" lotus="" style="font-family:">) و </span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">CT</span></span><span lang="AR-SA" style="font-size:10.0pt"><span b="" lotus="" style="font-family:"> با سرطان پستان (045/0 =</span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">P-value</span></span><span lang="AR-SA" style="font-size:10.0pt"><span b="" lotus="" style="font-family:">) (139/3- 012/1=</span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">, CI 95% </span></span><span lang="AR-SA" style="font-size:10.0pt"><span b="" lotus="" style="font-family:">&nbsp;782/1=</span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">OR</span></span><span lang="AR-SA" style="font-size:10.0pt"><span b="" lotus="" style="font-family:">) بود. فراوانی آلل&shy;های </span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">C</span></span><span lang="AR-SA" style="font-size:10.0pt"><span b="" lotus="" style="font-family:"> و </span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">T</span></span><span lang="AR-SA" style="font-size:10.0pt"><span b="" lotus="" style="font-family:"> در بیماران به ترتیب 62/40&nbsp; و 37/59 درصد و در جمعیت کنترل به ترتیب 44 و 56 درصد بود. نتایج حاصل نشان دهنده عدم همراهی فراوانی هیچ یک از الل&shy;های </span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">T</span></span><span style="font-size:10.0pt"><span b="" lotus="" style="font-family:"> (499/0 =</span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">P-value</span></span><span lang="AR-SA" style="font-size:10.0pt"><span b="" lotus="" style="font-family:">) و</span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times=""> C</span></span><span lang="AR-SA" style="font-size:10.0pt"><span b="" lotus="" style="font-family:"> (499/0 =</span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">P-value</span></span><span lang="AR-SA" style="font-size:10.0pt"><span b="" lotus="" style="font-family:">) </span></span>&nbsp;<span lang="AR-SA" style="font-size:10.0pt"><span b="" lotus="" style="font-family:">با ریسک ابتلا به سرطان پستان بود. از بین ویژگی&shy;های بالینی سمت درگیر همراهی معنی&shy;داری با توزیع ژنوتیپی این </span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">SNP</span></span><span style="font-size:10.0pt"><span b="" lotus="" style="font-family:"> داشت.</span></span><b> </b><span lang="AR-SA" style="font-size:10.0pt"><span b="" lotus="" style="font-family:">براساس نتایج حاصل این چندشکلی می&shy;تواند باعث افزایش ریسک ابتلا به سرطان پستان </span></span><span lang="FA" style="font-size:10.0pt"><span b="" lotus="" style="font-family:">در شمال غرب ایران </span></span><span lang="AR-SA" style="font-size:10.0pt"><span b="" lotus="" style="font-family:">شود. </span></span><b><span dir="LTR" style="font-size:10.0pt"><span style="font-family:"Times New Roman",serif"></span></span></b></span></span></span></span></span> <div></div> <i><span style="font-size:10.0pt"><span style="line-height:107%"><span new="" roman="" style="font-family:" times=""><span style="background-color:#ffffff;">ERCC5</span></span></span></span></i><span style="font-size:10.0pt"><span style="line-height:107%"><span new="" roman="" style="font-family:" times=""><span style="background-color:#ffffff;"> gene, is a key components of NER pathway and encodes a key endonuclease. In this study</span><span style="background:yellow"><span style="background-color:#ffffff;">,</span></span><span style="background-color:#ffffff;"> we analyzed the association between </span></span></span></span><span style="font-size:10.0pt"><span style="line-height:107%"><span new="" roman="" style="font-family:" times=""><span style="background-color:#ffffff;">rs2296147 </span><span style="background:yellow"><span style="background-color:#ffffff;">T>C</span></span></span></span></span><span style="font-size:10.0pt"><span style="line-height:107%"><span new="" roman="" style="font-family:" times=""><span style="background-color:#ffffff;"> polymorphism of</span><i><span style="background-color:#ffffff;"> ERCC5</span></i><span style="background-color:#ffffff;"> gene with the risk of breast cancer in a case-control study with statistical population consisting of 100 patients and 100 healthy controls by Tetra-ARMS PCR. Statistical analysis was performed using javastat online statistics package and SPSS V.26. </span><span style="background:yellow"><span style="background-color:#ffffff;">The frequency of CC, CT, and TT genotypes in the case group,</span></span><span style="background-color:#ffffff;"> were 11.46%, 58.33%, and 30.21%, respectively and they were 22%, 44%, and 34% for the control group. Statistical analysis showed a significant association between CC (p-value=0.049) (OR=0.459, CI 95%=0.209-1.007) and CT genotype (p-value=0.045) (OR=1.782, CI 95%=1.012-3.139) with breast cancer risk. Also, C and T alleles frequency in the case group, were 40.62 % and 59.37% and those in the control group were 44 % and 56 % respectively. There was not any significant association between T (p-value=0.499) and C (p-value=0.499) alleles frequency and breast cancer risk in Northwestern Iran. Also, there was no significant association between this SNP frequency and patient&rsquo;s pathological traits. In conclusion, our study indicated that </span><i><span style="background-color:#ffffff;">ERCC5</span></i><span style="background-color:#ffffff;"> rs2094258 polymorphism may contribute to the risk of breast cancer in northwestern of Iran. </span></span></span></span> ترمیم برش نوکلئوتیدی, چند شکلی تک نوکلئوتیدی, ژن ERCC5 , مطالعه مورد-شاهدی, ویژگی‌های بالینی Case-Control study, Nucleotide excision Repair, Pathological traits, Single Nucleotide Polymorphism, ERCC5 gene 12 20 http://nbr.khu.ac.ir/browse.php?a_code=A-10-1581-1&slc_lang=fa&sid=1 Rana Sadat abbasAbad رعنا سادات عباس آباد raanasadt@gmail.com 100319475328460011217 100319475328460011217 No MSc graduate, Department of Cellular and Molecular Biology, Faculty of Sciences, Azarbaijan Shahid Madani University, Tabriz, Iran فارغ التحصیل کارشناسی ارشد زیست شناسی سلولی و مولکولی، گروه زیست شناسی، دانشکده علوم پایه، دانشگاه شهید مدنی آذربایجان، تبریز، ایران. Sara Ghaffarian سارا غفاریان s.ghaffarian@azauniv.ac.ir 100319475328460011218 100319475328460011218 Yes Assistant Professor, Department of Cellular and Molecular Biology, Faculty of Sciences, Azarbaijan Shahid Madani University, Tabriz, Iran فارغ التحصیل کارشناسی ارشد زیست شناسی سلولی و مولکولی، گروه زیست شناسی، دانشکده علوم پایه، دانشگاه شهید مدنی آذربایجان، تبریز، ایران.