کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
6803718 1433547 2016 10 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Lack of CHCHD2 mutations in Parkinson's disease in a Taiwanese population
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی سالمندی
پیش نمایش صفحه اول مقاله
Lack of CHCHD2 mutations in Parkinson's disease in a Taiwanese population
چکیده انگلیسی
A recent study identified a missense mutation in coiled-coil-helix-coiled-coil-helix domain-containing 2 (CHCHD2) gene, p.Thr61Ile, in a Japanese multigenerational family with autosomal dominant Parkinson's disease (PD). Subsequent analyses identified several genetic variants in this gene that contributed to increased risk of sporadic PD, making CHCHD2 a novel candidate gene associated with PD. However, independent studies are warranted to confirm the role of CHCHD2 in PD. Among 1433 participated subjects, we sequenced all exons and exon-intron boundaries of CHCHD2 from 137 probands with familial PD and 129 age/sex-matched controls. An additional 586 sporadic PD patients and another 581 independent controls were later screened to validate possible risk substitutions. We found no CHCHD2 mutations, but we observed 5 genetic variants, including p.Pro2Leu (rs142444896), a risk variant for sporadic PD in Japanese populations. However, we did not find any significant associations between p.Pro2Leu (rs142444896) and risk of PD in our study cohort (0.86% vs. 1.20%, p = 0.20). Our data suggest that genetic variants of CHCHD2 do not play a major role in our Taiwanese PD population.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neurobiology of Aging - Volume 38, February 2016, Pages 218.e1-218.e2
نویسندگان
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