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Chambers JC Elliott P Zabaneh D Zhang W Li Y Froguel P Balding D Scott J Kooner JS 《Nature genetics》2008,40(6):716-718
We carried out a genome-wide association study (318,237 SNPs) for insulin resistance and related phenotypes in 2,684 Indian Asians, with further testing in 11,955 individuals of Indian Asian or European ancestry. We found associations of rs12970134 near MC4R with waist circumference (P = 1.7 x 10(-9)) and, independently, with insulin resistance. Homozygotes for the risk allele of rs12970134 have approximately 2 cm increased waist circumference. Common genetic variation near MC4R is associated with risk of adiposity and insulin resistance. 相似文献
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Andrew G. Cannizzaro Donna Balding Eric A. Lazo-Wasem 《Journal of Natural History》2019,53(7-8):425-473
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Sladek R Rocheleau G Rung J Dina C Shen L Serre D Boutin P Vincent D Belisle A Hadjadj S Balkau B Heude B Charpentier G Hudson TJ Montpetit A Pshezhetsky AV Prentki M Posner BI Balding DJ Meyre D Polychronakos C Froguel P 《Nature》2007,445(7130):881-885
Type 2 diabetes mellitus results from the interaction of environmental factors with a combination of genetic variants, most of which were hitherto unknown. A systematic search for these variants was recently made possible by the development of high-density arrays that permit the genotyping of hundreds of thousands of polymorphisms. We tested 392,935 single-nucleotide polymorphisms in a French case-control cohort. Markers with the most significant difference in genotype frequencies between cases of type 2 diabetes and controls were fast-tracked for testing in a second cohort. This identified four loci containing variants that confer type 2 diabetes risk, in addition to confirming the known association with the TCF7L2 gene. These loci include a non-synonymous polymorphism in the zinc transporter SLC30A8, which is expressed exclusively in insulin-producing beta-cells, and two linkage disequilibrium blocks that contain genes potentially involved in beta-cell development or function (IDE-KIF11-HHEX and EXT2-ALX4). These associations explain a substantial portion of disease risk and constitute proof of principle for the genome-wide approach to the elucidation of complex genetic traits. 相似文献
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Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots 总被引:19,自引:0,他引:19
Phillips MS Lawrence R Sachidanandam R Morris AP Balding DJ Donaldson MA Studebaker JF Ankener WM Alfisi SV Kuo FS Camisa AL Pazorov V Scott KE Carey BJ Faith J Katari G Bhatti HA Cyr JM Derohannessian V Elosua C Forman AM Grecco NM Hock CR Kuebler JM Lathrop JA Mockler MA Nachtman EP Restine SL Varde SA Hozza MJ Gelfand CA Broxholme J Abecasis GR Boyce-Jacino MT Cardon LR 《Nature genetics》2003,33(3):382-387
Recent studies of human populations suggest that the genome consists of chromosome segments that are ancestrally conserved ('haplotype blocks'; refs. 1-3) and have discrete boundaries defined by recombination hot spots. Using publicly available genetic markers, we have constructed a first-generation haplotype map of chromosome 19. As expected for this marker density, approximately one-third of the chromosome is encompassed within haplotype blocks. Evolutionary modeling of the data indicates that recombination hot spots are not required to explain most of the observed blocks, providing that marker ascertainment and the observed marker spacing are considered. In contrast, several long blocks are inconsistent with our evolutionary models, and different mechanisms could explain their origins. 相似文献
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