نوع مقاله : مقاله پژوهشی

نویسندگان

1 فارغ التحصیل کارشناسی ارشد زیست شناسی سلولی و مولکولی دانشگاه شهید مدنی آذربایجان، تبریز،

2 استادیار گروه زیست شناسی، دانشکده علوم پایه، دانشگاه شهید مدنی آذربایجان، تبریز، ایران

10.22051/jab.2024.45923.1605

چکیده

مقدمه: ترمیم برش نوکلئوتیدی (NER) یک مکانیسم کلیدی ترمیم DNA است و ژن ERCC5 یکی از اجزای کلیدی این مسیر، یک اندونوکلئاز ویژه با ساختار 1168 آمینواسیدی را کد می‌کند. در این مطالعه همراهی چندشکلی rs1047768 T>C ژن ERCC5 با استعداد ابتلا به سرطان پستان در زنان شمال غرب ایران مورد بررسی قرار گرفت.
روش‌ها: در این مطالعه مورد-شاهدی، همراهی چندشکلی rs1047768 T>C ژن ERCC5 با استعداد ابتلا به سرطان پستان در جامعه آماری متشکل از 100 زن بیمار و 100 فرد سالم با تکنیک Tetra-ARMS PCR مورد بررسی قرار گرفت. تجزیه و تحلیل داده‌های حاصل با استفاده از برنامه‌ی آماری آنلاین javastat و نرم‌افزار SPSS نسخه‌ی 26 انجام ‌شد.
نتایج: فراوانی ژنوتیپ‌های CC ، TC و TT در بیماران به ترتیب 43/26، 83/44 و 73/28 درصد و فراوانی آن‌ها در افراد سالم به ترتیب 44/24، 55/15 و 60 درصد بود. تجزیه‌های آماری نشان دهنده همراهی معنی‌دار ژنوتیپ‌های TT (001/0 =P-value) (503/0- 144/0=, CI 95% 269/0=OR) و TC با سرطان پستان (001/0 =P-value) (967/8- 169/2=, CI 95% 411/4/0=OR) بود. فراوانی آلل‌های C و T در بیماران به ترتیب 85/48 و 14/51 درصد بود. در جمعیت کنترل فراوانی آلل‌های C و T به ترتیب 22/32 و 77/67 درصد بود. نتایج حاصل نشان دهنده همراهی فراوانی دو آلل T (001/0 =P-value) و C (001/0 =P-value) با ریسک ابتلا به سرطان پستان بود. همراهی ویژگی‌های پاتولوژیکی افراد بیمار با توزیع ژنوتیپی این SNP معناداری نبود.
بحث: براساس نتایج این چندشکلی می‌تواند باعث افزایش ریسک ابتلا به سرطان پستان در شمال غرب ایران شود.

کلیدواژه‌ها

عنوان مقاله [English]

Association Between ERCC5 Gene Polymorphism (rs1047768) and the Risk of Breast Cancer in Northwest of Iran

نویسندگان [English]

  • Neda ShahAbbasi 1
  • Sara Ghaffarian 2

1 MSc graduate, Department of Cellular and Molecular Biology, Faculty of Sciences, Azarbaijan Shahid Madani University, Tabriz, Iran

2 2. Assistant Professor, Department of Cellular and Molecular Biology, Faculty of Sciences, Azarbaijan Shahid Madani University, Tabriz, Iran

چکیده [English]

Introduction: Nucleotide Excision Repair (NER) is a key mechanism in DNA repair, and the ERCC5 gene, is one of the key components of this pathway, which encodes a special endonuclease with 1168 amino acids. In this research we studied the association of rs920778 C>T single nucleotide polymorphism of ERCC5 gene with the risk of breast cancer in northwest Iran.
Material and methods: In this case-control study, the association of ERCC5 (rs920778 C>T) gene polymorphism with breast cancer susceptibility was studied in a 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.
Results: In the case group, the frequency of CC, CT, and TT genotypes were 26.43%, 44.83%, and 28.73%, respectively and they were 24.44%, 15.55%, and 60% for the control group. Statistical analysis showed a significant association between TT genotype (p-value=0.000) (OR=0.269, CI 95%=0.144-0.503) and CT genotype (p-value=0.000) (OR=4.411, CI 95%=2.169-8.967) with breast cancer risk. Also, C and T allele frequency in case group, was 48.85% and 51.14% and them in the control group were 32.22% and 67.77% respectively. There was a significant association between T (p-value=0.001) and C (p-value=0.001) allele frequency and breast cancer risk in Northwestern Iran. There was no significant association between this SNP frequency and patient’s pathological traits.
Conclution: These findings suggest that this SNP may contribute to the susceptibility of breast cancer in northwestern Iran.

کلیدواژه‌ها [English]

  • Case-Control study
  • Nucleotide excision Repair
  • Pathological traits
  • Single Nucleotide Polymorphism
  • XPG gene
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