کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6806073 | 1433567 | 2014 | 8 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Genetic variation in BIN1 gene and Alzheimer's disease risk in Han Chinese individuals
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
سالمندی
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چکیده انگلیسی
Genome-wide association studies have identified the bridging integrator 1 (BIN1) gene as the most important genetic susceptibility locus in late-onset Alzheimer's disease (LOAD) after apolipoprotein E for individuals of European ancestry. To further characterize this association and to isolate the variants within BIN1 contributing to LOAD in Han Chinese individuals, we conducted a 2-step design study in our cohort of 1133 LOAD patients and 1159 control subjects. Sequencing analysis identified 44 variants within BIN1. Follow-up genotyping analysis revealed that a novel missense mutation P318L appeared to exert risk effect for development of LOAD; and rs67327804 was also significantly associated with LOAD risk even after adjusting for age, gender, and apolipoprotein E ε4 status. Haplotype analysis confirmed that the “GA” haplotype derived from single-nucleotide polymorphisms in rs67327804 and rs1060743 showed a 1.4-fold increased risk of LOAD. Our findings provided the first independent evidence that variants in BIN1 were significantly associated with LOAD in Han Chinese individuals.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neurobiology of Aging - Volume 35, Issue 7, July 2014, Pages 1781.e1-1781.e8
Journal: Neurobiology of Aging - Volume 35, Issue 7, July 2014, Pages 1781.e1-1781.e8
نویسندگان
Meng-Shan Tan, Jin-Tai Yu, Teng Jiang, Xi-Chen Zhu, Hua-Shi Guan, Lan Tan,