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  • 1
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    A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity (2007)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2007-04-17
    Description: Obesity is a serious international health problem that increases the risk of several common diseases. The genetic factors predisposing to obesity are poorly understood. A genome-wide search for type 2 diabetes-susceptibility genes identified a common variant in the FTO (fat mass and obesity associated) gene that predisposes to diabetes through an effect on body mass index (BMI). An additive association of the variant with BMI was replicated in 13 cohorts with 38,759 participants. The 16% of adults who are homozygous for the risk allele weighed about 3 kilograms more and had 1.67-fold increased odds of obesity when compared with those not inheriting a risk allele. This association was observed from age 7 years upward and reflects a specific increase in fat mass.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2646098/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2646098/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Frayling, Timothy M -- Timpson, Nicholas J -- Weedon, Michael N -- Zeggini, Eleftheria -- Freathy, Rachel M -- Lindgren, Cecilia M -- Perry, John R B -- Elliott, Katherine S -- Lango, Hana -- Rayner, Nigel W -- Shields, Beverley -- Harries, Lorna W -- Barrett, Jeffrey C -- Ellard, Sian -- Groves, Christopher J -- Knight, Bridget -- Patch, Ann-Marie -- Ness, Andrew R -- Ebrahim, Shah -- Lawlor, Debbie A -- Ring, Susan M -- Ben-Shlomo, Yoav -- Jarvelin, Marjo-Riitta -- Sovio, Ulla -- Bennett, Amanda J -- Melzer, David -- Ferrucci, Luigi -- Loos, Ruth J F -- Barroso, Ines -- Wareham, Nicholas J -- Karpe, Fredrik -- Owen, Katharine R -- Cardon, Lon R -- Walker, Mark -- Hitman, Graham A -- Palmer, Colin N A -- Doney, Alex S F -- Morris, Andrew D -- Smith, George Davey -- Hattersley, Andrew T -- McCarthy, Mark I -- 079557/Wellcome Trust/United Kingdom -- 090532/Wellcome Trust/United Kingdom -- G0000934/Medical Research Council/United Kingdom -- G0500070/Medical Research Council/United Kingdom -- G0600705/Medical Research Council/United Kingdom -- G9815508/Medical Research Council/United Kingdom -- MC_U106179471/Medical Research Council/United Kingdom -- MC_U106188470/Medical Research Council/United Kingdom -- Z99 AG999999/Intramural NIH HHS/ -- Wellcome Trust/United Kingdom -- New York, N.Y. -- Science. 2007 May 11;316(5826):889-94. Epub 2007 Apr 12.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Genetics of Complex Traits, Institute of Biomedical and Clinical Science, Peninsula Medical School, Magdalen Road, Exeter, UK.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/17434869" target="_blank"〉PubMed〈/a〉
    Keywords: Adipose Tissue ; Adolescent ; Adult ; Aged ; Alleles ; Birth Weight ; *Body Mass Index ; Case-Control Studies ; Child ; Cohort Studies ; Diabetes Mellitus, Type 2/*genetics ; Female ; *Genetic Predisposition to Disease ; Great Britain ; Homozygote ; Humans ; Infant, Newborn ; Male ; Middle Aged ; Obesity/*genetics ; Overweight/genetics ; *Polymorphism, Single Nucleotide
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 2
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    The UK10K project identifies rare variants in health and disease (2015)
    Nature Publishing Group (NPG)
    Details
    Publication Date: 2015-09-15
    Description: The contribution of rare and low-frequency variants to human traits is largely unexplored. Here we describe insights from sequencing whole genomes (low read depth, 7x) or exomes (high read depth, 80x) of nearly 10,000 individuals from population-based and disease collections. In extensively phenotyped cohorts we characterize over 24 million novel sequence variants, generate a highly accurate imputation reference panel and identify novel alleles associated with levels of triglycerides (APOB), adiponectin (ADIPOQ) and low-density lipoprotein cholesterol (LDLR and RGAG1) from single-marker and rare variant aggregation tests. We describe population structure and functional annotation of rare and low-frequency variants, use the data to estimate the benefits of sequencing for association studies, and summarize lessons from disease-specific collections. Finally, we make available an extensive resource, including individual-level genetic and phenotypic data and web-based tools to facilitate the exploration of association results.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4773891/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4773891/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉UK10K Consortium -- Walter, Klaudia -- Min, Josine L -- Huang, Jie -- Crooks, Lucy -- Memari, Yasin -- McCarthy, Shane -- Perry, John R B -- Xu, ChangJiang -- Futema, Marta -- Lawson, Daniel -- Iotchkova, Valentina -- Schiffels, Stephan -- Hendricks, Audrey E -- Danecek, Petr -- Li, Rui -- Floyd, James -- Wain, Louise V -- Barroso, Ines -- Humphries, Steve E -- Hurles, Matthew E -- Zeggini, Eleftheria -- Barrett, Jeffrey C -- Plagnol, Vincent -- Richards, J Brent -- Greenwood, Celia M T -- Timpson, Nicholas J -- Durbin, Richard -- Soranzo, Nicole -- 091551/Wellcome Trust/United Kingdom -- 095515/Wellcome Trust/United Kingdom -- 095564/Wellcome Trust/United Kingdom -- 098498/Wellcome Trust/United Kingdom -- 100140/Wellcome Trust/United Kingdom -- 104036/Wellcome Trust/United Kingdom -- CZD/16/6/4/Chief Scientist Office/United Kingdom -- MC_UU_12013/3/Medical Research Council/United Kingdom -- RG/10/13/28570/British Heart Foundation/United Kingdom -- WT091310/Wellcome Trust/United Kingdom -- England -- Nature. 2015 Oct 1;526(7571):82-90. doi: 10.1038/nature14962. Epub 2015 Sep 14.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/26367797" target="_blank"〉PubMed〈/a〉
    Keywords: Adiponectin/blood ; Alleles ; Cohort Studies ; Disease/*genetics ; Exome/genetics ; Female ; Genetic Predisposition to Disease/genetics ; Genetic Variation/*genetics ; Genetics, Medical ; Genetics, Population ; Genome, Human/*genetics ; Genome-Wide Association Study ; Genomics ; Great Britain ; *Health ; Humans ; Lipid Metabolism/genetics ; Male ; Molecular Sequence Annotation ; Receptors, LDL/genetics ; Reference Standards ; Sequence Analysis, DNA ; Triglycerides/blood
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Published by Nature Publishing Group (NPG)
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  • 3
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    Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes (2007)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2007-04-28
    Description: The molecular mechanisms involved in the development of type 2 diabetes are poorly understood. Starting from genome-wide genotype data for 1924 diabetic cases and 2938 population controls generated by the Wellcome Trust Case Control Consortium, we set out to detect replicated diabetes association signals through analysis of 3757 additional cases and 5346 controls and by integration of our findings with equivalent data from other international consortia. We detected diabetes susceptibility loci in and around the genes CDKAL1, CDKN2A/CDKN2B, and IGF2BP2 and confirmed the recently described associations at HHEX/IDE and SLC30A8. Our findings provide insight into the genetic architecture of type 2 diabetes, emphasizing the contribution of multiple variants of modest effect. The regions identified underscore the importance of pathways influencing pancreatic beta cell development and function in the etiology of type 2 diabetes.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3772310/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3772310/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Zeggini, Eleftheria -- Weedon, Michael N -- Lindgren, Cecilia M -- Frayling, Timothy M -- Elliott, Katherine S -- Lango, Hana -- Timpson, Nicholas J -- Perry, John R B -- Rayner, Nigel W -- Freathy, Rachel M -- Barrett, Jeffrey C -- Shields, Beverley -- Morris, Andrew P -- Ellard, Sian -- Groves, Christopher J -- Harries, Lorna W -- Marchini, Jonathan L -- Owen, Katharine R -- Knight, Beatrice -- Cardon, Lon R -- Walker, Mark -- Hitman, Graham A -- Morris, Andrew D -- Doney, Alex S F -- Wellcome Trust Case Control Consortium (WTCCC) -- McCarthy, Mark I -- Hattersley, Andrew T -- 083948/Wellcome Trust/United Kingdom -- 090532/Wellcome Trust/United Kingdom -- G0000934/Medical Research Council/United Kingdom -- G0500070/Medical Research Council/United Kingdom -- Wellcome Trust/United Kingdom -- New York, N.Y. -- Science. 2007 Jun 1;316(5829):1336-41. Epub 2007 Apr 26.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, OX3 7LJ, UK.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/17463249" target="_blank"〉PubMed〈/a〉
    Keywords: Adult ; Aged ; Case-Control Studies ; Chromosome Mapping ; Diabetes Mellitus, Type 2/*genetics ; Female ; Genes, p16 ; *Genetic Predisposition to Disease ; *Genome, Human ; Great Britain ; Homeodomain Proteins/genetics ; Humans ; Insulin-Like Growth Factor Binding Proteins/genetics ; Introns ; Male ; Meta-Analysis as Topic ; Middle Aged ; Oligonucleotide Array Sequence Analysis ; *Polymorphism, Single Nucleotide ; Transcription Factors/genetics
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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