Mối liên hệ giữa các biến thể di truyền ESR1, ESR2, HER2, UGT1A4 và UGT2B7 với ung thư vú tại Jordan: một nghiên cứu đối chứng

BMC Cancer - Tập 19 Số 1 - 2019
Laith N. AL-Eitan1, Doaa M Rababa'h1, Mansour A. Alghamdi2, Rame Khasawneh3
1Department of Applied Biological Sciences, Jordan University of Science and Technology, P.O. Box 3030, Irbid, 22110, Jordan
2College of Medicine, King Khalid University, Abha, Saudi Arabia
3Department of Hematopathology, King Hussein Medical Center (KHMC), Jordan Royal Medical Services (RMS), Amman, 11118, Jordan

Tóm tắt

Tóm tắt Đặt vấn đề Nguy cơ, sự phát triển và điều trị ung thư vú bị ảnh hưởng bởi biến thể di truyền ở một số gen nhất định, cụ thể là những gen liên quan tới sự tăng sinh tế bào, ức chế khối u và chuyển hóa thuốc. Do đó, sự liên quan của biến thể di truyền được đề cập trên đây tới ung thư phụ thuộc vào nhóm dân tộc cụ thể, điều này làm nổi bật nhu cầu cần có các nghiên cứu liên kết theo quần thể. Mục tiêu của nghiên cứu hiện tại là điều tra mối liên hệ giữa một số biến thể nucleotide đơn (SNP) của ESR1, ESR2, HER2, UGT1A4, và UGT2B7 với ung thư vú. Phương pháp Các mẫu máu đã được thu thập từ 437 bệnh nhân ung thư vú người Ả Rập Jordan và các tình nguyện viên khỏe mạnh, và đã được phân tích kiểu gen bằng hệ thống Sequenom MassARRAY® (iPLEX GOLD). Kết quả Những phát hiện của chúng tôi cho thấy có mối liên hệ quan trọng giữa ung thư vú và tần suất allele (P = 0.02486879) cũng như tần suất kiểu gen (P = 0.04793066) của biến thể ESR1 rs3798577, một kết quả đã được xác nhận trong các mô hình di truyền khác nhau. Không có biến thể di truyền nào khác được nghiên cứu cho thấy có mối liên hệ quan trọng với ung thư vú ở người Ả Rập Jordan, tuy nhiên mô hình di truyền Rare Hz (GG) so với Het (AG) đã cho thấy có liên hệ của bệnh này với biến thể ESR1 rs3798577. Tuy nhiên, một số mối liên hệ đã được tìm thấy giữa một số biến thể và các yếu tố tiên lượng của ung thư vú.

Từ khóa


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BMC Cancer

Tập 19 Số 1

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