کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6802990 | 1433518 | 2018 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Target-enriched sequencing of chromosome 17q21.31 in sporadic tauopathies reveals no candidate variants
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موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
سالمندی
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چکیده انگلیسی
The main genetic risk factors for progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) are located at chromosome 17q21.31. The identification of risk H1 subhaplotypes suggests that disease-specific variants can be identified by resequencing the 17q21.31 region (1.4Â Mb) in carriers of risk H1 subhaplotypes. We hypothesized that PSP/CBD H1 subhaplotype carriers could have undergone a mutational event absent among unaffected carriers leading to the disease risk. We performed this strategy in definite PSP subjects, definite CBD subjects, and healthy controls and tried to replicate the findings in a larger PSP/CBD case-control series. In the resequencing process, 40 candidate variants were identified, but an association between PSP and rs76970862 was replicated only using an unadjusted model. Gene expression association analysis of this variant suggested no potential functional effect. Although our results failed to identify disease-associated variants, it is still possible that the risk of PSP/CBD at chromosome 17 is driven by rare variants, even in PSP/CBD H1 cases or variants located outside the capture regions.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neurobiology of Aging - Volume 66, June 2018, Pages 177.e7-177.e10
Journal: Neurobiology of Aging - Volume 66, June 2018, Pages 177.e7-177.e10
نویسندگان
Cristina Razquin, Sara Ortega-Cubero, Estefania Rojo-Bustamante, Monica Diez-Fairen, Elena Lorenzo, Elena Alonso, Mario Ezquerra, Owen A. Ross, Maria Carcel, Oswaldo Lorenzo-Betancor, Alexandra I. Soto, Jeremy D. Burgess, Nilüfer Ertekin-Taner,