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401.
Lemaire SA McDonald ML Guo DC Russell L Miller CC Johnson RJ Bekheirnia MR Franco LM Nguyen M Pyeritz RE Bavaria JE Devereux R Maslen C Holmes KW Eagle K Body SC Seidman C Seidman JG Isselbacher EM Bray M Coselli JS Estrera AL Safi HJ Belmont JW Leal SM Milewicz DM 《Nature genetics》2011,43(10):996-1000
Although thoracic aortic aneurysms and dissections (TAAD) can be inherited as a single-gene disorder, the genetic predisposition in the majority of affected people is poorly understood. In a multistage genome-wide association study (GWAS), we compared 765 individuals who had sporadic TAAD (STAAD) with 874 controls and identified common SNPs at a 15q21.1 locus that were associated with STAAD, with odds ratios of 1.6-1.8 that achieved genome-wide significance. We followed up 107 SNPs associated with STAAD with P < 1 × 10(-5) in the region, in two separate STAAD cohorts. The associated SNPs fall into a large region of linkage disequilibrium encompassing FBN1, which encodes fibrillin-1. FBN1 mutations cause Marfan syndrome, whose major cardiovascular complication is TAAD. This study shows that common genetic variants at 15q21.1 that probably act via FBN1 are associated with STAAD, suggesting a common pathogenesis of aortic disease in Marfan syndrome and STAAD. 相似文献
402.
Stacey SN Sulem P Jonasdottir A Masson G Gudmundsson J Gudbjartsson DF Magnusson OT Gudjonsson SA Sigurgeirsson B Thorisdottir K Ragnarsson R Benediktsdottir KR Nexø BA Tjønneland A Overvad K Rudnai P Gurzau E Koppova K Hemminki K Corredera C Fuentelsaz V Grasa P Navarrete S Fuertes F García-Prats MD Sanambrosio E Panadero A De Juan A Garcia A Rivera F Planelles D Soriano V Requena C Aben KK van Rossum MM Cremers RG van Oort IM van Spronsen DJ Schalken JA Peters WH Helfand BT Donovan JL 《Nature genetics》2011,43(11):1098-1103
To identify new risk variants for cutaneous basal cell carcinoma, we performed a genome-wide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. We imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 × 10(-17)), which has a frequency of 0.0192 in the Icelandic population. We then confirmed this association in non-Icelandic samples (OR = 1.75, P = 0.0060; overall OR = 2.16, P = 2.2 × 10(-20)). rs78378222 is in the 3' untranslated region of TP53 and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3'-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (OR = 1.44, P = 2.4 × 10(-6)), glioma (OR = 2.35, P = 1.0 × 10(-5)) and colorectal adenoma (OR = 1.39, P = 1.6 × 10(-4)). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88-1.27). 相似文献
403.
404.
ABSTRACT A new species of the genus Setelacher Bou?ek, S. lasallei sp. nov. Gumovsky and van Noort, is described from the Afrotropical region (Central African Republic, Gabon and Uganda). It confirms the presence of the genus in the region. The only described species of the genus, S. fasciatus Bou?ek, is of Australasian and Indo-Malayan distribution, and one undescribed species was previously recorded from South Africa. All images presented here are available on www.waspweb.org http://www.zoobank.org/urn:lsid:zoobank.org:pub:D6AA0B15-6EA7-4C93-827C-1807E69BD6D2 相似文献
405.
Kiemeney LA Thorlacius S Sulem P Geller F Aben KK Stacey SN Gudmundsson J Jakobsdottir M Bergthorsson JT Sigurdsson A Blondal T Witjes JA Vermeulen SH Hulsbergen-van de Kaa CA Swinkels DW Ploeg M Cornel EB Vergunst H Thorgeirsson TE Gudbjartsson D Gudjonsson SA Thorleifsson G Kristinsson KT Mouy M Snorradottir S Placidi D Campagna M Arici C Koppova K Gurzau E Rudnai P Kellen E Polidoro S Guarrera S Sacerdote C Sanchez M Saez B Valdivia G Ryk C de Verdier P Lindblom A Golka K Bishop DT 《Nature genetics》2008,40(11):1307-1312
We conducted a genome-wide SNP association study on 1,803 urinary bladder cancer (UBC) cases and 34,336 controls from Iceland and The Netherlands and follow up studies in seven additional case-control groups (2,165 cases and 3,800 controls). The strongest association was observed with allele T of rs9642880 on chromosome 8q24, 30 kb upstream of MYC (allele-specific odds ratio (OR) = 1.22; P = 9.34 x 10(-12)). Approximately 20% of individuals of European ancestry are homozygous for rs9642880[T], and their estimated risk of developing UBC is 1.49 times that of noncarriers. No association was observed between UBC and the four 8q24 variants previously associated with prostate, colorectal and breast cancers, nor did rs9642880 associate with any of these three cancers. A weaker signal, but nonetheless of genome-wide significance, was captured by rs710521[A] located near TP63 on chromosome 3q28 (allele-specific OR = 1.19; P = 1. 15 x 10(-7)). 相似文献
406.
Gudmundsson J Sulem P Rafnar T Bergthorsson JT Manolescu A Gudbjartsson D Agnarsson BA Sigurdsson A Benediktsdottir KR Blondal T Jakobsdottir M Stacey SN Kostic J Kristinsson KT Birgisdottir B Ghosh S Magnusdottir DN Thorlacius S Thorleifsson G Zheng SL Sun J Chang BL Elmore JB Breyer JP McReynolds KM Bradley KM Yaspan BL Wiklund F Stattin P Lindström S Adami HO McDonnell SK Schaid DJ Cunningham JM Wang L Cerhan JR St Sauver JL Isaacs SD Wiley KE Partin AW Walsh PC Polo S Ruiz-Echarri M 《Nature genetics》2008,40(3):281-283
We conducted a genome-wide SNP association study on prostate cancer on over 23,000 Icelanders, followed by a replication study including over 15,500 individuals from Europe and the United States. Two newly identified variants were shown to be associated with prostate cancer: rs5945572 on Xp11.22 and rs721048 on 2p15 (odds ratios (OR) = 1.23 and 1.15; P = 3.9 x 10(-13) and 7.7 x 10(-9), respectively). The 2p15 variant shows a significantly stronger association with more aggressive, rather than less aggressive, forms of the disease. 相似文献
407.
Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer
Stacey SN Manolescu A Sulem P Thorlacius S Gudjonsson SA Jonsson GF Jakobsdottir M Bergthorsson JT Gudmundsson J Aben KK Strobbe LJ Swinkels DW van Engelenburg KC Henderson BE Kolonel LN Le Marchand L Millastre E Andres R Saez B Lambea J Godino J Polo E Tres A Picelli S Rantala J Margolin S Jonsson T Sigurdsson H Jonsdottir T Hrafnkelsson J Johannsson J Sveinsson T Myrdal G Grimsson HN Sveinsdottir SG Alexiusdottir K Saemundsdottir J Sigurdsson A Kostic J Gudmundsson L Kristjansson K Masson G 《Nature genetics》2008,40(6):703-706
We carried out a genome-wide association study of breast cancer predisposition with replication and refinement studies involving 6,145 cases and 33,016 controls and identified two SNPs (rs4415084 and rs10941679) on 5p12 that confer risk, preferentially for estrogen receptor (ER)-positive tumors (OR = 1.27, P = 2.5 x 10(-12) for rs10941679). The nearest gene, MRPS30, was previously implicated in apoptosis, ER-positive tumors and favorable prognosis. A recently reported signal in FGFR2 was also found to associate specifically with ER-positive breast cancer. 相似文献
408.
Gudbjartsson DF Sulem P Stacey SN Goldstein AM Rafnar T Sigurgeirsson B Benediktsdottir KR Thorisdottir K Ragnarsson R Sveinsdottir SG Magnusson V Lindblom A Kostulas K Botella-Estrada R Soriano V Juberías P Grasa M Saez B Andres R Scherer D Rudnai P Gurzau E Koppova K Kiemeney LA Jakobsdottir M Steinberg S Helgason A Gretarsdottir S Tucker MA Mayordomo JI Nagore E Kumar R Hansson J Olafsson JH Gulcher J Kong A Thorsteinsdottir U Stefansson K 《Nature genetics》2008,40(7):886-891
Fair color increases risk of cutaneous melanoma (CM) and basal cell carcinoma (BCC). Recent genome-wide association studies have identified variants affecting hair, eye and skin pigmentation in Europeans. Here, we assess the effect of these variants on risk of CM and BCC in European populations comprising 2,121 individuals with CM, 2,163 individuals with BCC and over 40,000 controls. A haplotype near ASIP, known to affect a similar spectrum of pigmentation traits as MC1R variants, conferred significant risk of CM (odds ratio (OR) = 1.45, P = 1.2 x 10(-9)) and BCC (OR = 1.33, P = 1.2 x 10(-6)). The variant in TYR encoding the R402Q amino acid substitution, previously shown to affect eye color and tanning response, conferred risk of CM (OR = 1.21, P = 2.8 x 10(-7)) and BCC (OR = 1.14, P = 6.1 x 10(-4)). An eye color variant in TYRP1 was associated with risk of CM (OR = 1.15, P = 4.6 x 10(-4)). The association of all three variants is robust with respect to adjustment for the effect of pigmentation. 相似文献
409.
410.
Simon Bell 《Systemic Practice and Action Research》1996,9(2):129-149
This paper is concerned with the development of a monitoring and evaluation system for the second phase of a United Nations Drug Control Programme (UNDCP) in Pakistan and the manner in which participatory structures are developed and built on in a complex development context. Initially the paper introduces the context. The project is concerned with rural development issues as part of a structured programme to substitute opium poppy growing with a range of agricultural and social innovations. During the first phase of the project (up to 1993) the main focus of attention for the project was measured in terms of physical progress with road building, electricity supply, irrigation works and concentration on improved agricultural practices. Phase II has set out to build on this, most specifically in terms of gaining the greater participation of local people in the project activity. The paper describes the monitoring and evaluation (M&E) structure for the project and notes that it is intended that M&E further encourage participation and beneficiary analysis (analysis of project benefits by those who are intended to derive most from the project outputs). One of the primary means set out for achieving this was by inducing the professional staff working in the project to adopt new mind sets, adjusting their focus from being technical experts supplying undoubted technical improvements to being co-operative partners, bringing ideas to the area but equally being willing to work through these ideas and their implications and learn from the communities. The process for the development of the monitoring system is described, and the methodology ‘TeamUp’ discussed. Links are made to related areas of study—most specifically the literature of Rapid and Participatory Rural Development (RRA and PRA). Finally, the paper discusses the results of the research to date and the likely extension of the ideas to other projects. 相似文献