Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison's disease
نویسندگان
چکیده
منابع مشابه
Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison's disease.
BACKGROUND Autoimmune disease is one of the leading causes of morbidity and mortality worldwide. In Addison's disease, the adrenal glands are targeted by destructive autoimmunity. Despite being the most common cause of primary adrenal failure, little is known about its aetiology. METHODS To understand the genetic background of Addison's disease, we utilized the extensively characterized patie...
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PURPOSE Leber congenital amaurosis (LCA) is one of the most severe eye dystrophies characterized by severe vision loss at an early stage and accounts for approximately 5% of all retinal dystrophies. The purpose of this study was to identify a novel LCA disease allele or gene and to develop an approach combining genetic mapping with whole exome sequencing. METHODS Three patients from King Khal...
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BACKGROUND Genetic variants make some contributions to inflammatory bowel disease (IBD), including Crohn's disease (CD) and ulcerative colitis (UC). More than 100 susceptibility loci were identified in Western IBD studies, but susceptibility gene has not been found in Chinese IBD patients till now. Sequencing of individuals with an IBD family history is a powerful approach toward our understand...
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Wolff-Parkinson-White (WPW) syndrome is a common cause of supraventricular tachycardia that carries a risk of sudden cardiac death. To date, mutations in only one gene, PRKAG2, which encodes the 5'-AMP-activated protein kinase subunit γ-2, have been identified as causative for WPW. DNA samples from five members of a family with WPW were analyzed by exome sequencing. We applied recently designed...
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Objective Alzheimer's disease (AD) is a neurodegenerative disorder for which more than 20 genetic loci have been implicated to date. However, studies demonstrate not all genetic factors have been identified. Therefore, in this study we seek to identify additional rare variants and novel genes potentially contributing to AD. Methods Whole exome sequencing was performed on 23 multi-generational...
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ژورنال
عنوان ژورنال: Journal of Internal Medicine
سال: 2016
ISSN: 0954-6820,1365-2796
DOI: 10.1111/joim.12569