Nghiên cứu kết hợp toàn bộ gen về bệnh Alzheimer khởi phát muộn bằng phương pháp tập hợp DNA

BMC Medical Genomics - 2008
Richard Abraham1, Valentina Moskvina1, Rebecca Sims1, Paul Hollingworth1, Angharad R. Morgan1, Lyudmila Georgieva1, Kimberley Dowzell1, Sven Cichon2, Axel M. Hillmer2, Michael O’Donovan1, Julie Williams1, George Kirov1
1Department of Psychological Medicine, Cardiff University, School of Medicine, Heath Park, Cardiff, UK
2Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany

Tóm tắt

Tóm tắt Thông tin nền Bệnh Alzheimer khởi phát muộn (LOAD) là một bệnh thần kinh thoái hóa liên quan đến tuổi tác với tỷ lệ mắc cao, tạo ra áp lực lớn đối với nguồn lực chăm sóc sức khỏe trong các xã hội có dân số già đi. Yếu tố di truyền có nguy cơ xác định duy nhất cho LOAD là gen apolipoprotein E. Để xác định các locus di truyền nguy cơ bổ sung, chúng tôi đã thực hiện một nghiên cứu liên kết toàn bộ gen (GWA) trên một mẫu case – control lớn của LOAD, giảm chi phí thông qua việc sử dụng phương pháp hòa trộn DNA. Phương pháp Mẫu DNA được thu thập từ 1.082 cá nhân mắc LOAD và 1.239 chủ thể đối chứng. Độ tuổi khởi phát dao động từ 60 đến 95 và các đối chứng được ghép đôi theo tuổi tác (trung bình = 76,53 năm, SD = 33), giới tính và chủng tộc. Số lượng DNA bằng nhau từ mỗi mẫu được thêm vào hoặc một nhóm trường hợp hoặc nhóm đối chứng. Các nhóm này được genotyped bằng cách sử dụng các mảng Illumina HumanHap300 và Illumina Sentrix HumanHap240S nhằm kiểm tra 561.494 SNP. 114 SNP tốt nhất từ dữ liệu hòa trộn của chúng tôi đã được xác định và sau đó được genotyped riêng lẻ trong mẫu case – control được sử dụng để cấu trúc các nhóm.

Từ khóa

#Bệnh Alzheimer khởi phát muộn #gien apolipoprotein E #nghiên cứu liên kết toàn bộ gen #phương pháp hòa trộn DNA #SNP #LRAT

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