Đa hình nucletide đơn rs10757278 trên nhiễm sắc thể 9p21 có liên quan đến nguy cơ hội chứng chuyển hóa

Molecular and Cellular Biochemistry - Tập 379 - Trang 77-85 - 2013
Burcu Bayoglu1, Huseyin Altug Cakmak2, Husniye Yuksel2, Gunay Can3, Bilgehan Karadag2, Turgut Ulutin1, Vural Ali Vural2, Mujgan Cengiz1
1Department of Medical Biology, Cerrahpasa Medical Faculty, Istanbul University, Cerrahpasa Fatih/Istanbul, Turkey
2Department of Cardiology, Cerrahpasa Medical Faculty, Istanbul University, Cerrahpasa Fatih/Istanbul, Turkey
3Department of Public Health, Cerrahpasa Medical Faculty, Istanbul University, Cerrahpasa Fatih/Istanbul, Turkey

Tóm tắt

Hội chứng chuyển hóa (MetS) là một rối loạn đa yếu tố phổ biến liên quan đến béo phì vùng bụng, rối loạn lipid máu, tăng huyết áp và tăng đường huyết. Các nghiên cứu liên kết toàn bộ bộ gen đã xác định một vị trí nguy cơ chính cho bệnh động mạch vành và nhồi máu cơ tim trên nhiễm sắc thể 9p21. Ở đây, chúng tôi đã kiểm tra tần suất các đa hình nucleotide đơn (SNPs) trên nhiễm sắc thể 9p21 trong một mẫu bệnh nhân người Thổ Nhĩ Kỳ mắc MetS và điều tra thêm mối tương quan giữa các SNP trong khu vực, các haplotype và MetS. Phản ứng chuỗi polymerase thời gian thực (RT-PCR) đã được sử dụng để phân tích 4 SNP (rs10757274 A/G, rs2383207 A/G, rs10757278 A/G, rs1333049 C/G) ở 291 bệnh nhân MetS và 247 đối chứng. Phân tích 4 SNP cho thấy có sự khác biệt đáng kể trong phân bố kiểu gen cho rs2383207, rs10757278 và rs1333049 giữa bệnh nhân MetS và đối chứng (p = 0.041, p = 0.005, p = 0.023, tương ứng) nhưng không cho rs10757274 (p = 0.211). Tần suất alen của MetS và đối chứng đối với rs2383207, rs10757278 và rs1333049 có sự khác biệt về mặt thống kê (p < 0.05). Biến thể AG của rs2383207 được xác định là một yếu tố nguy cơ MetS (p = 0.012, OR = 33.271; 95 % CI: 2.193–504.805) và haplotype AA trong khối 1 cùng với các haplotype GC, AG trong khối 2 có mối liên quan đến MetS (χ² = 3.875, p = 0.049; χ² = 9.334, p = 0.0022; χ² = 9.134, p = 0.0025, tương ứng). Trong nghiên cứu này, chúng tôi đã tìm thấy rằng SNP rs10757278 trên nhiễm sắc thể 9p21 và các haplotype liên quan có mối tương quan với nguy cơ MetS. Đây là báo cáo đầu tiên cho thấy sự liên kết giữa biến thể 9p21 và MetS, và gợi ý rằng đa hình rs10757278 có thể làm tăng nguy cơ mắc bệnh.

Từ khóa

#hội chứng chuyển hóa #SNP #nhiễm sắc thể 9p21 #béo phì vùng bụng #rối loạn lipid máu

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