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51.
52.
Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease 总被引:1,自引:0,他引:1
Trynka G Hunt KA Bockett NA Romanos J Mistry V Szperl A Bakker SF Bardella MT Bhaw-Rosun L Castillejo G de la Concha EG de Almeida RC Dias KR van Diemen CC Dubois PC Duerr RH Edkins S Franke L Fransen K Gutierrez J Heap GA Hrdlickova B Hunt S Izurieta LP Izzo V Joosten LA Langford C Mazzilli MC Mein CA Midah V Mitrovic M Mora B Morelli M Nutland S Núñez C Onengut-Gumuscu S Pearce K Platteel M Polanco I Potter S Ribes-Koninckx C Ricaño-Ponce I Rich SS Rybak A Santiago JL Senapati S Sood A 《Nature genetics》2011,43(12):1193-1201
Using variants from the 1000 Genomes Project pilot European CEU dataset and data from additional resequencing studies, we densely genotyped 183 non-HLA risk loci previously associated with immune-mediated diseases in 12,041 individuals with celiac disease (cases) and 12,228 controls. We identified 13 new celiac disease risk loci reaching genome-wide significance, bringing the number of known loci (including the HLA locus) to 40. We found multiple independent association signals at over one-third of these loci, a finding that is attributable to a combination of common, low-frequency and rare genetic variants. Compared to previously available data such as those from HapMap3, our dense genotyping in a large sample collection provided a higher resolution of the pattern of linkage disequilibrium and suggested localization of many signals to finer scale regions. In particular, 29 of the 54 fine-mapped signals seemed to be localized to single genes and, in some instances, to gene regulatory elements. Altogether, we define the complex genetic architecture of the risk regions of and refine the risk signals for celiac disease, providing the next step toward uncovering the causal mechanisms of the disease. 相似文献
53.
Hahn CN Chong CE Carmichael CL Wilkins EJ Brautigan PJ Li XC Babic M Lin M Carmagnac A Lee YK Kok CH Gagliardi L Friend KL Ekert PG Butcher CM Brown AL Lewis ID To LB Timms AE Storek J Moore S Altree M Escher R Bardy PG Suthers GK D'Andrea RJ Horwitz MS Scott HS 《Nature genetics》2011,43(10):1012-1017
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Restoring coal mined land to pre-mining shrub cover, density, height, community composition, and diversity to renew wildlife habitat quality is a priority for reclamation specialists. Long-term shrub reestablishment success on reclaimed mined land in Wyoming and suitability of these lands for wildlife habitat are unknown. Fourteen reclaimed study sites, 10 yr old or older, were selected on 8 mines in Wyoming to evaluate shrub reestablishment and wildlife habitat value for antelope ( Antilocapra americana ) and sage grouse ( Centrocercus urophasianus ). Five sites were categorized as fourwing saltbush ( Atriplex canescens ) sites and 9 as fourwing saltbush/big sagebrush ( A. canescens/Artemisia tridentata spp. wyomingensis ) sites. Published data describing antelope and sage grouse-preferred habitat requirements in sagebrush-grassland steppe ecosystems were used to evaluate shrub community value of sampled sites for wildlife habitat. Mean shrub canopy cover, density, and height for fourwing saltbush sites were 5.8%, 0.23 m -2 , and 41.6 cm, respectively, compared to 5.6%, 0.61 m -2 , and 31.1 cm for fourwing saltbush/big sagebrush sites. Two fourwing saltbush and 4 fourwing saltbush/big sagebrush sites provided sufficient cover for antelope, while 2 fourwing saltbush and 4 fourwing saltbush/big sagebrush sites were adequate for sage grouse. Only 1 fourwing saltbush/big sagebrush site provided high enough shrub densities for sage grouse. One fourwing saltbush and 7 fourwing saltbush/big sagebrush sites provided ample shrub heights for antelope, while 1 fourwing saltbush and 8 fourwing saltbush/big sagebrush sites were sufficient for sage grouse. One fourwing saltbush and 1 fourwing saltbush/big sagebrush site provided enough grass, forb, and shrub composition for antelope, while no site in either reclamation type was satisfactory for sage grouse. Shrub diversity was 3 times higher for fourwing saltbush/big sagebrush sites (0.984) than for fourwing saltbush sites (0.328). Individually, sites seeded with multiple shrub species had higher canopy cover, density, and diversity compared with single-species shrub seedings. Achieving premining shrub cover, density, height, community composition, and diversity within existing bond-release time frames is unrealistic, considering that some native shrublands require 30-60 yr to reach maturity. 相似文献
56.
The genus Capnia in North America is reviewed and compared to other genera in the family. The genus is divided into 10 species groups. A key to the 51 species of Capnia in North America is given along with a listing of type localities, type repositories, diagnoses, and distributions. New illustrations of structures bearing characters important for identification and classification are presented. An annotation of the list of Capnia of North America given by Stark, Szczytko, and Baumann (1986) reflecting current generic placement of species is produced. From this list Capnia bakeri and sugluka are moved to Mesocapnia . Capnia barbata Frison is placed in synonymy under Capnia decepta . The movement of cygna (synonym of venosa ), elevata, fibula, manitoba, venosa , and wanica to Capnura (Nelson and Baumann, 1987b) is noted. Capnia disala and ensicala are placed in Paracapnia . 相似文献
57.
The Black Hills of South Dakota and Wyoming are an insular mountain range completely surrounded by the Great Plains. The stonefly (Plecoptera) fauna of the Black Hills was surveyed and zoogeographic affinities examined. Twenty-seven species representing 22 genera and 6 families were found. Fifteen new state records for South Dakota and 2 for Wyoming are presented. Two species are removed from the South Dakota list. An analysis of the North American distribution of each species showed a strong relationship between the Black Hills and the Rocky Mountains, with much weaker relationships between the Black Hills and eastern and northern regions. Results of a logistic regression analysis comparing factors contributing to long-distance dispersal ability against presence/absence in the Black Hills were inconclusive. However, other evidence suggests that the Black Hills fauna is a result of expansion and subsequent vicariance of stonefly populations during Pleistocene climatic oscillations. 相似文献
58.
Lenski RE 《Nature genetics》2011,43(12):1174-1176
The combination of genomic, epidemiological and evolutionary analyses provides a powerful toolbox for understanding how pathogens adapt to their human hosts. By sequencing 112 Burkholderia dolosa genomes from an outbreak among patients with cystic fibrosis, a new study documents evolution in action and identifies a set of genes that contributed to the pathogen's adaptation. 相似文献
59.
Giardine B Borg J Higgs DR Peterson KR Philipsen S Maglott D Singleton BK Anstee DJ Basak AN Clark B Costa FC Faustino P Fedosyuk H Felice AE Francina A Galanello R Gallivan MV Georgitsi M Gibbons RJ Giordano PC Harteveld CL Hoyer JD Jarvis M Joly P Kanavakis E Kollia P Menzel S Miller W Moradkhani K Old J Papachatzopoulou A Papadakis MN Papadopoulos P Pavlovic S Perseu L Radmilovic M Riemer C Satta S Schrijver I Stojiljkovic M Thein SL Traeger-Synodinos J Tully R Wada T Waye JS Wiemann C 《Nature genetics》2011,43(4):295-301
We developed a series of interrelated locus-specific databases to store all published and unpublished genetic variation related to hemoglobinopathies and thalassemia and implemented microattribution to encourage submission of unpublished observations of genetic variation to these public repositories. A total of 1,941 unique genetic variants in 37 genes, encoding globins and other erythroid proteins, are currently documented in these databases, with reciprocal attribution of microcitations to data contributors. Our project provides the first example of implementing microattribution to incentivise submission of all known genetic variation in a defined system. It has demonstrably increased the reporting of human variants, leading to a comprehensive online resource for systematically describing human genetic variation in the globin genes and other genes contributing to hemoglobinopathies and thalassemias. The principles established here will serve as a model for other systems and for the analysis of other common and/or complex human genetic diseases. 相似文献
60.
Isidor B Lindenbaum P Pichon O Bézieau S Dina C Jacquemont S Martin-Coignard D Thauvin-Robinet C Le Merrer M Mandel JL David A Faivre L Cormier-Daire V Redon R Le Caignec C 《Nature genetics》2011,43(4):306-308
Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder with facial anomalies, osteoporosis and acro-osteolysis. We sequenced the exomes of six unrelated individuals with this syndrome and identified heterozygous nonsense and frameshift mutations in NOTCH2 in five of them. All mutations cluster to the last coding exon of the gene, suggesting that the mutant mRNA products escape nonsense-mediated decay and that the resulting truncated NOTCH2 proteins act in a gain-of-function manner. 相似文献