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Book Chapter
Series: Frontiers in Diabetes
Volume: 23
Published: 15 September 2014
10.1159/000362464
EISBN: 978-3-318-02700-6
... Abstract Genome-wide association studies of type 2 diabetes have been extremely successful in identifying loci contributing genetic effects to disease susceptibility. These loci often extend over hundreds of kilobases, contain many transcripts, and encompass hundreds of variants, many of which...
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Book Chapter
Series: Frontiers in Diabetes
Volume: 23
Published: 15 September 2014
10.1159/000362466
EISBN: 978-3-318-02700-6
... Abstract Genome-wide association studies (GWAS) of patients with type 2 diabetes (T2D) and unaffected controls (case-control studies) have been hugely successful in identifying T2D risk loci. In the first 2 years of GWAS, over 13 loci were found to associate with T2D risk, 4-fold more than...
Book Chapter
Series: Endocrine Development
Volume: 31
Published: 27 January 2016
10.1159/000439418
EISBN: 978-3-318-05639-6
... alleles (∼85 and ∼50% in Europeans, respectively) lead to a considerable population-attributable risk of type 2 diabetes. Several other genetic loci identified by candidate gene studies were later confirmed to be associated with type 2 diabetes by GWAS, such as IRS1 [ 26 ], encoding insulin receptor...
Book Chapter
Series: Frontiers in Diabetes
Volume: 23
Published: 15 September 2014
10.1159/000362467
EISBN: 978-3-318-02700-6
.... Adults, adolescents, and children have been studied, as have populations of differing ancestries. At least 78 loci have been identified, 7 of which include one of the 59 genes implicated in monogenic forms of obesity or lipodystrophy. Nine of the obesity loci co-localise with type 2 diabetes GWAS signals...
Book Chapter
Series: Endocrine Development
Volume: 31
Published: 27 January 2016
EISBN: 978-3-318-05639-6
... with decreased risk of type 2 diabetes. Nat Genet 2000;26:76-80. 19. Zeggini E, Weedon MN, Lindgren CM, et al: Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science 2007;316:1336-1341. 20. Diabetes Genetics Initiative of Broad Institute of Harvard...
Book Chapter
Series: Frontiers in Diabetes
Volume: 23
Published: 15 September 2014
10.1159/000362463
EISBN: 978-3-318-02700-6
... signals detected at genome-wide significance account for only 5-10% of overall variation in disease predisposition, their discovery infers much about T2D pathophysiology. Genes mapping to T2D susceptibility loci are enriched for transcription factors and cell cycle regulators, yet only partially overlap...
Book Chapter
Series: Nestlé Nutrition Institute Workshop Series
Volume: 71
Published: 24 January 2013
10.1159/000342541
EISBN: 978-3-318-02270-4
... variants that are associated with human growth traits. These variants have implicated many novel genes in the regulation of birthweight and pubertal timing through to final adult height, and are providing new insights into the biology of growth. For example, 180 genetic loci have been robustly shown...
Book Chapter
Series: Frontiers of Oral Biology
Volume: 16
Published: 27 June 2012
EISBN: 978-3-318-02108-0
..., Daack-Hirsch S, Murray JC, Marazita ML: A genome-wide linkage scan for cleft lip and palate and dental anomalies. Am J Med Genet A 2008;146:1406-1413 9. Vieira AR, McHenry TG, Daack-Hirsch S, Murray JC, Marazita ML: Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel...
Book Chapter
Series: Frontiers in Diabetes
Volume: 23
Published: 15 September 2014
EISBN: 978-3-318-02700-6
...References References 1. Zeggini E, Scott LJ, Saxena R, Voight BF, et al: Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet 2008;40:638-645. 2. Kong A, Steinthorsdottir V, Masson G...
Book Chapter
Series: Yearbook of Pediatric Endocrinology
Published: 14 September 2011
10.1159/000330706
EISBN: 978-3-8055-9860-6
... Genome-wide association studies (GWAS) have been hugely successful in identifying thousands of genetic loci robustly associated with hundreds of disease and other human traits. Since the first GWAS publication in an endocrinology-related topic, obesity in 2007, these studies have very rapidly...
Book Chapter
Series: Contributions to Nephrology
Volume: 181
Published: 13 May 2013
10.1159/000348652
EISBN: 978-3-318-02390-9
..., together with the known familial aggregation of disease, suggests an inherited mechanism. Recently three genome-wide association studies (GWAS) of IgAN have identified seven susceptibility loci, providing initial insight into the genetic architecture of this trait. While genetic studies of complex traits...
Book Chapter
Series: Pediatric and Adolescent Medicine
Volume: 19
Published: 27 January 2015
10.1159/000368103
EISBN: 978-3-318-02799-0
... studies (GWASs) to be an efficient tool to identify novel loci associated with obesity. GWASs have revealed that more than 30 polymorphisms are significantly associated with obesity, including those mapping within genes such as FTO , TMEM18 , and MC4R . Although many of these genes seem to influence...
Book Chapter
Series: Frontiers in Diabetes
Volume: 23
Published: 15 September 2014
EISBN: 978-3-318-02700-6
... and predisposes to childhood and adult obesity . Science 2007;316:889-894. 17. Guo Y, Lanktree MB, Taylor KC, Hakonarson H, Lange LA, Keating BJ: Gene-centric meta-analyses of 108912 individuals confirm known body mass index loci and reveal three novel signals . Hum Mol Genet 2013;22:184-201. 18. Wen W...
Book Chapter
Series: Genome Dynamics
Volume: 4
Published: 14 April 2008
10.1159/000126010
EISBN: 978-3-8055-8492-0
... sequencing experiments have demonstrated that thousands of loci, usually repetitivesequences, generate these siRNAs. In contrast, microRNAs (miRNAs) are encoded by perhapsjust several hundred loci per genome that generate Pol II-derived single stranded precursorswhich are processed into specific miRNAs...