The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes.
By David Altshuler, Joel Hirschhorn, M. Klannemark, C. Lindgren, M. Vohl, J. Nemesh, C. R. Lane, S. Schaffner, S. Bolk, C. Brewer and 6 more. Nature Genetics, 2000
698 citations recorded by the source corpus.
View Paper: https://www.semanticscholar.org/paper/0f6cb0da963dbbc8050dd92282e9f511c1a92bfa
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Citations in the corpus
- The relative contributions of insulin resistance and beta-cell dysfunction to the pathophysiology of Type 2 diabetes (2003, background): “For instance, in a cohort of markedly insulin-resistant subjects, two different dominant negative mutations of the peroxisome proliferator activating receptor gamma (PPAR-γ) receptor could only explain less than 4% of these cases [20], with the effect of this mutation on obesity and diabetes being d”
- Meta‐analysis of the association between a serotonin transporter promoter polymorphism (5‐HTTLPR) and anxiety‐related personality traits (2004, methodology): “Meta-analysis has been used successfully to both confirm [Altshuler et al., 2000; Faraone et al., 2001] and refute [Kluger et al.”
- Consistent Association of Type 2 Diabetes Risk Variants Found in Europeans in Diverse Racial and Ethnic Groups (2010, background): “With the exception of the KCNQ1 locus which was identified in the Japanese population [1,2], all of the well-replicated risk variants were first identified in populations of Northern European ancestry [3–13].”
- Chapter 11: Genome-Wide Association Studies (2012, background): “discovery of several susceptibility variants for common disease with high minor allele frequency (including alleles in the apolipoprotein E or APOE gene for Alzheimer’s disease [11] and PPARg gene in type II diabetes [12]), led to the development of the common disease/common variant (CD/CV) hypothes”
- A Mitochondrial Paradigm of Metabolic and Degenerative Diseases, Aging, and Cancer: A Dawn for Evolutionary Medicine (2005, background): “Type II diabetes has also been associated with a Pro121A polymorphism in the PPARγ gene (5) and with a Gly482Ser polymorphism in the PGC-1 gene in Danish (53) and Pima Indian (156) populations.”
- Genetic association studies: Design, analysis and interpretation (2002, background): “For example, Altshuler et al.(23) analyse several polymorphisms that have previously been associated with increased risk of developing type 2 diabetes.”