排序方式: 共有7条查询结果,搜索用时 15 毫秒
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Hüffmeier U Uebe S Ekici AB Bowes J Giardina E Korendowych E Juneblad K Apel M McManus R Ho P Bruce IN Ryan AW Behrens F Lascorz J Böhm B Traupe H Lohmann J Gieger C Wichmann HE Herold C Steffens M Klareskog L Wienker TF Fitzgerald O Alenius GM McHugh NJ Novelli G Burkhardt H Barton A Reis A 《Nature genetics》2010,42(11):996-999
Psoriatic arthritis (PsA) is an inflammatory joint disease that is distinct from other chronic arthritides and which is frequently accompanied by psoriasis vulgaris (PsV) and seronegativity for rheumatoid factor. We conducted a genome-wide association study in 609 German individuals with PsA (cases) and 990 controls with replication in 6 European cohorts including a total of 5,488 individuals. We replicated PsA associations at HLA-C and IL12B and identified a new association at TRAF3IP2 (rs13190932, P = 8.56 × 10?1?). TRAF3IP2 was also associated with PsV in a German cohort including 2,040 individuals (rs13190932, P = 1.95 × 10?3). Sequencing of the exons of TRAF3IP2 identified a coding variant (p.Asp10Asn, rs33980500) as the most significantly associated SNP (P = 1.13 × 10?2?, odds ratio = 1.95). Functional assays showed reduced binding of this TRAF3IP2 variant to TRAF6, suggesting altered modulation of immunoregulatory signals through altered TRAF interactions as a new and shared pathway for PsA and PsV. 相似文献
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Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. 总被引:13,自引:0,他引:13
R C Betz B G Schoser D Kasper K Ricker A Ramírez V Stein T Torbergsen Y A Lee M M N?then T F Wienker J P Malin P Propping A Reis W Mortier T J Jentsch M Vorgerd C Kubisch 《Nature genetics》2001,28(3):218-219
Hereditary rippling muscle disease (RMD) is an autosomal dominant human disorder characterized by mechanically triggered contractions of skeletal muscle. Genome-wide linkage analysis has identified an RMD locus on chromosome 3p25. We found missense mutations in positional candidate CAV3 (encoding caveolin 3; ref. 5) in all five families analyzed. Mutations in CAV3 have also been described in limb-girdle muscular dystrophy type 1C (LGMD1C; refs. 6,7), demonstrating the allelism of dystrophic and non-dystrophic muscle diseases. 相似文献
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Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1 总被引:7,自引:0,他引:7
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KU Ludwig E Mangold S Herms S Nowak H Reutter A Paul J Becker R Herberz T Alchawa E Nasser AC Böhmer M Mattheisen MA Alblas S Barth N Kluck C Lauster B Braumann RH Reich A Hemprich S Pötzsch B Blaumeiser N Daratsianos T Kreusch JC Murray ML Marazita I Ruczinski AF Scott TH Beaty FJ Kramer TF Wienker RP Steegers-Theunissen M Rubini PA Mossey P Hoffmann C Lange S Cichon P Propping M Knapp MM Nöthen 《Nature genetics》2012,44(9):968-971
We have conducted the first meta-analyses for nonsyndromic cleft lip with or without cleft palate (NSCL/P) using data from the two largest genome-wide association studies published to date. We confirmed associations with all previously identified loci and identified six additional susceptibility regions (1p36, 2p21, 3p11.1, 8q21.3, 13q31.1 and 15q22). Analysis of phenotypic variability identified the first specific genetic risk factor for NSCLP (nonsyndromic cleft lip plus palate) (rs8001641; P(NSCLP) = 6.51 × 10(-11); homozygote relative risk = 2.41, 95% confidence interval (CI) 1.84-3.16). 相似文献
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Hillmer AM Brockschmidt FF Hanneken S Eigelshoven S Steffens M Flaquer A Herms S Becker T Kortüm AK Nyholt DR Zhao ZZ Montgomery GW Martin NG Mühleisen TW Alblas MA Moebus S Jöckel KH Bröcker-Preuss M Erbel R Reinartz R Betz RC Cichon S Propping P Baur MP Wienker TF Kruse R Nöthen MM 《Nature genetics》2008,40(11):1279-1281
We carried out a genome-wide association study in 296 individuals with male-pattern baldness (androgenetic alopecia) and 347 controls. We then investigated the 30 best SNPs in an independent replication sample and found highly significant association for five SNPs on chromosome 20p11 (rs2180439 combined P = 2.7 x 10(-15)). No interaction was detected with the X-chromosomal androgen receptor locus, suggesting that the 20p11 locus has a role in a yet-to-be-identified androgen-independent pathway. 相似文献
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Lee YA Wahn U Kehrt R Tarani L Businco L Gustafsson D Andersson F Oranje AP Wolkertstorfer A v Berg A Hoffmann U Küster W Wienker T Rüschendorf F Reis A 《Nature genetics》2000,26(4):470-473
Atopic dermatitis (eczema) is a chronic inflammatory skin disease with onset mainly in early childhood It is commonly the initial clinical manifestation of allergic disease, often preceding the onset of respiratory allergies. Along with asthma and allergic rhinitis, atopic dermatitis is an important manifestation of atopy that is characterized by the formation of allergy antibodies (IgE) to environmental allergens. In the developed countries, the prevalence of atopic dermatitis is approximately 15%, with a steady increase over the past decades. Genetic and environmental factors interact to determine disease susceptibility and expression, and twin studies indicate that the genetic contribution is substantial. To identify susceptibility loci for atopic dermatitis, we ascertained 199 families with at least two affected siblings based on established diagnostic criteria. A genome-wide linkage study revealed highly significant evidence for linkage on chromosome 3q21 (Zall=4.31, P= 8.42 10(-6)). Moreover, this locus provided significant evidence for linkage of allergic sensitization under the assumption of paternal imprinting (hlod=3.71,alpha=44%), further supporting the presence of an atopy gene in this region. Our findings indicate that distinct genetic factors contribute to susceptibility to atopic dermatitis and that the study of this disease opens new avenues to dissect the genetics of atopy. 相似文献
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