Đặc điểm kiểu gen của đa hình MTHFR C677T, MTHFR A1298C, MTR A2756G và MTRR A66G ở phụ nữ sảy thai liên tiếp

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Tác giả: Minh Phương Nguyễn, Ngọc Nhất Nguyễn, Thanh Tùng Nguyễn, Ngọc Thảo My Trần, Văn Tuấn Trần, Tiến Sang Triệu, Thế Sơn Trịnh

Ngôn ngữ: vie

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Thông tin xuất bản: Tạp chí Khoa học và Công nghệ Việt Nam - B, 2022

Mô tả vật lý: tr.1

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ID: 327620

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Nghiên cứu được thực hiện nhằm đánh giá mối liên quan giữa các kiểu gen của đa hình đơn nucleotide MTHFR C677T, MTHFR A1298C, MTR A2756G và MTRR A66G với sảy thai liên tiếp. Nghiên cứu được thực hiện theo phương pháp bệnh - chứng trên nhóm bệnh gồm những phụ nữ có tiền sử sảy thai liên tiếp không rõ nguyên nhân (n=92) và nhóm chứng là những phụ nữ thai sản khỏe mạnh (n=92). Kết quả cho thấy, số alen đột biến, kiểu gen dị hợp tử và đồng hợp tử bệnh của đa hình MTHFR C677T ở nhóm bệnh cao hơn có ý nghĩa thống kê so với nhóm chứng (p<
0,05), người mang những kiểu gen dị hợp tử và đồng hợp tử đột biến có nguy cơ sảy thai liên tiếp cao hơn 2,5 lần (OR 2,5, 95% CI, 1,27-4,94, p=0,0041) và 4,57 lần (OR 4,57, 95% CI, 1,05-27,41, p=0,0190) so với không mang đột biến. Ngoài ra, nhận thấy sự tăng lên có ý nghĩa thống kê về số alen đột biến của đa hình MTR A2756G ở nhóm bệnh so với nhóm chứng (p<
0,05). Tuy nhiên, cả 3 đa hình MTHFR A1298C, MTR A2756G và MTRR A66G đều không có sự khác biệt về kiểu gen giữa nhóm bệnh với nhóm chứng và không làm tăng nguy cơ sảy thai liên tiếp (p>
0,05). Điều này cho thấy, đa hình MTHFR C677T là yếu tố nguy cơ gây sảy thai liên tiếp ở những phụ nữ tham gia nghiên cứu. Đối với những đa hình MTHFR A1298C, MTR A2756G và MTRR A66G cần mở rộng quy mô nghiên cứu để tiếp tục đánh giá nguy cơ gây bệnh.This research aimed to investigate the correlation between genotype of single nucleotide polymorphisms MTHFR C677T, MTHFR A1298C, MTR A2756G, MTRR A66G and recurrent pregnancy loss (RPL). A case-control study was performed on 92 women suffering from URPL and 92 women who had a normal history of pregnancy. Regarding MTHFR C677T, the average numbers of alleles, heterozygous genotypes, and mutant homozygous genotypes were significantly higher in the group with RPL (p<
0.05), women with these genotypes had a greater incidence of having recurrent pregnancy losses 2.5 fold (OR 2.5, 95% CI, 1.27-4.94, p=0.0041), and 4.57 fold (OR 4.57, 95% CI, 1.05-27.41, p=0.0190), separately. Otherwise, the cases were also significantly higher in MTR A2756G mutant allele versus the controls (p<
0.05). However, in terms of the MTHFR A1298C, MTR A2756G, MTRR A66G polymorphisms, the obtained results were similar and they were not risks factor of recurrent pregnancy loss (p>
0.05). The polymorphism MTHFR C677T is a risk factor for the RPL in the participants. Regarding the MTHFR A1298C, MTR A2756G, and MTRR A66G polymorphisms, more research has to be done to further analyse their correlation.

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