瑞典关于CARD15变异体在决定克罗恩病易感性作用的研究

来源 :世界核心医学期刊文摘(胃肠病学分册) | 被引量 : 0次 | 上传用户:zhaoyun1111
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Objective.Crohn’s disease(CD) is a chronic inflammatory bowel disorder caused by environmental and genetic factors.Mutations in the CARD15 gene have been associated with CD.No previous case-control CARD15 study has been performed in the Swedish population.Material and methods.The study comprised of 321 individuals:178 with CD and 143 healthy controls(HCs) ,all from Stockholm County.All were genotyped for the three main CD-associated CARD15 variants(R702W,G908R and 1007fs) and phen-otypic associations were investigated.Results.The allele frequencies of the R702W variant(4.5% CD versus 0.7% HC,p = 0.008,OR = 6.8) and the G908R variant(2.0% CD versus 0% HC,p = 0.045) were more common in CD patients than in controls.No significant difference in 1007fs variant allele frequencywas found between CD patients and controls(2.0% CD versus 1.7% HC,p = 0.8,OR = 1.1) .Carriage of CARD15 variants was more common in the CD patients than in controls(15.2% CD versus 4.2% HC,p = 0.001,OR = 4.1,population attributable risk(PAR) = 11.4%) .Genotype-phenotype analysis demonstrated that CARD15 variants were associated with ileal disease(p =0.0006,OR = 9.3,CI = 2.2-34) and protective for colonic CD(p = 0.01,OR = 0.18) .An association between CARD15 variants and ileal CD(p = 0.004,OR = 6.6) was confirmed by multivariate analyses.Conclusions.The CARD15 variants R702W and G908R,but not 1007fs,are associated with susceptibility to CD in Stockholm County.Genotype-phen-otype analysis shows an association with ileal CD.The contribution of these CARD15 mutations in Swedish CD patients overall is low in relation to studies elsewhere in Central Europe and North America,but is consistent with emerging data from elsewhere in Scandinavia and in Northern Europe. Objectives. Crohn’s disease (CD) is a chronic inflammatory bowel disorder caused by environmental and genetic factors. Mutations in the CARD15 gene have been associated with CD. No prior case-control CARD15 study has been performed in the Swedish population. Material and methods. The study comprised of 321 individuals: 178 with CD and 143 healthy controls (HCs), all from Stockholm County. All were genotyped for the three main CD-associated CARD15 variants (R702W, G908R and 1007fs) and phen -otypic associations were investigated. Results. The allele frequencies of the R702W variant (4.5% CD versus 0.7% HC, p = 0.008, OR = 6.8) and the G908R variant (2.0% CD versus 0% HC, p = 0.045) were more common in CD patients than in controls. Significant difference in 1007 fs variant allele frequency was found between CD patients and controls. Carriage of CARD 15 variants was more common in the CD patients than in controls (2.0% CD versus 1.7% HC, p = 0.8, OR = 1.1) 15.2% CD versus 4.2% HC, p = 0.001, OR = 4.1, population attributable risk (PAR) = 11.4%). Genotype-phenotype analysis demonstrated that CARD15 variants were associated with ileal disease (p = 0.0006, OR = 9.3, CI = 2.2-34) and protective for colonic CD 0.18). An association between CARD15 variants and ileal CD (p = 0.004, OR = 6.6) was confirmed by multivariate analyzes. Conclusions. CARD 15 variants R702W and G908R, but not 1007fs, associated with susceptibility to CD in Stockholm County. Genotype -phen -otype analysis shows an association with ileal CD. The contribution of these CARD 15 mutations in Swedish CD patients overall is low in relation to studies elsewhere in Central Europe and North America, but consistent with emerging data from elsewhere in Scandinavia and in Northern Europe.
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