Nghiên cứu đa hình gen CYP3A5 ở người Kinh Việt Nam

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Tác giả: Đăng Tôn Nguyễn, Hải Hà Nguyễn, Phương Nhung Vũ

Ngôn ngữ: Vie

Ký hiệu phân loại: 660.6 Biotechnology

Thông tin xuất bản: Sinh học 2020

Mô tả vật lý: 111-123

Bộ sưu tập: Metadata

ID: 393816

Thêm vào giỏ Liên kết toàn văn

CYP3A5 là một trong 4 gen thuộc cụm gen CYP3A mã hóa cho các enzyme tham gia chuyển hóa nhiều loại thuốc, các hợp chất nội sinh và các hợp chất xenobiotic khác. Trong đó, CYP3A5 tham gia chuyển hóa hơn 30% thuốc lâm sàng được kê đơn. Khả năng chuyển hóa thuốc của CYP3A5 cũng như các gen khác thuộc họ CYP3A phụ thuộc chủ yếu vào di truyền. Trong số các biến thể đã biết của CYP3A5, *3, *6, *8 và *9 là các biến thể tạo nên protein bị giảm hoặc không có hoạt tính. Trong nghiên cứu này chúng tôi sử dụng phương pháp giải trình tự trực tiếp để xác định các biến thể quan trọng của gen CYP3A5 bao gồm *3, *6, *8 và *9 trên 100 người Kinh khỏe mạnh. Kết quả cho thấy CYP3A5*3 là biến thể phổ biến nhất với tần số xuất hiện là 67,5%. Năm mươi phần trăm cá thể mang alen *3 có kiểu gen đồng hợp tử CYP3A5*3/*3. Không có cá thể nào được xác định là mang các biến thể *6, *8 và *9. Dữ liệu thu được của nghiên cứu góp phần nâng cao hiệu quả điều trị các bệnh có sử dụng các loại thuốc chuyển hóa bởi CYP3A5., Tóm tắt tiếng anh, Cytochrome P450 3A5 (CYP) belongs to the CYP3A cluster, which encode for several enzymes involved in metabolism of various drugs, endogenous substrates as well as exogenous compounds. Among the four genes of CY3A cluster, CYP3A5 plays an important role in pharmacogenetics since this enzyme metabolizes over 30% of the clinically prescribed drugs. The inter-individual variability in clearance of CYP3A substrates mainly depends on the genetic factors. In the present study, after collecting peripheral bloods samples from 100 unrelated healthy Kinh ethnic group in Vietnam, Sanger sequencing was used in order to determine the CYP3A5 variants responsible for enzyme activity alteration (*3, *6, *8 and *9). It was shown that CYP3A5*3 is the most prevalent variant with 67.5%, in which a haft of individuals carrying *3 were homozygous for this allele. In contrast, the variants *6, *8 and *9 were not found the study subjects. The data observed in current study would support dosing of drugs that metabolized by CYP3A5 and thereby increase treatment outcome.

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