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Exp Dermatol ; 27(7): 748-753, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29630754


Psoriasis is a chronic multifactorial disease and is considered to be strongly associated with the major histocompatibility complex (MHC) region. We have discovered an independent, novel and susceptible psoriasis risk HLA loci, rs9266150; P = 4.52 × 10-9 for the first time. In this study, we aimed to verify the relationship between the susceptible locus and the subphenotypes of psoriasis vulgaris (PV), including geographic location, gender, age of onset, family history and present skin lesion types (chronic plaque and guttate). To investigate the distribution and association of the rs9266150 gene with clinical phenotypes of PV in Chinese Han population, we conducted an analysis in case-control and case-only subjects in the 9906 controls and 8744 cases by MHC targeted sequencing stratified analysis in this study. Significant associations were found with a northern geographic location in the case-only (P = 1.97 × 10-4 ) and the subphenotype-control analyses (P = 5.57 × 10-5 ), males in the case-only (P = 4.77 × 10-3 ) and the subphenotype-control analyses (P = 7.31 × 10-4 ), and guttate psoriasis in the case-only (P = 4.08 × 10-3 ) and the subphenotype-control analyses (P = 1.27 × 10-3 ). There were no significant differences observed between the age of onset (OR = 1.062, 95% CI: 0.9725-1.16, P = 1.8 × 10-1 ) and the family history of psoriasis (OR = 0.981, 95% CI: 0.9048-1.064, P = 6.43 × 10-1 ). The recessive model provided the best fit for rs9266150 (P = 4.38 × 10-7 ). Our results implied that rs9266150 might not only play an important role in the development of psoriasis, but also be positively associated with the geographic location, gender and present skin lesion in the Chinese population.

PLoS One ; 12(10): e0186067, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29020033


Researchers have learned that nearly all conditions and diseases have a genetic component. With the benefit of technological advances, many single-nucleotide polymorphisms (SNPs) have been found to be associated with the risk of complex disorders by using genome wide association studies (GWASs). Disease-associated SNPs are sometimes shared by healthy controls and cannot clearly distinguish affected individuals from unaffected ones. The combined effects of multiple independent SNPs contribute to the disease process, but revealing the relationship between genotype and phenotype based on the combinations remains a great challenge. In this study, by considering the disease prevalence rate, we conducted an exhaustive process to identify whether a genotype combination pattern would have a decisive effect on complex disorders. Based on genotype data for 68 reported SNPs in 8,372 psoriasis patients and 8,510 healthy controls, we found that putative causal genotype combination patterns (CGCPs) were only present in psoriasis patients, not in healthy subjects. These results suggested that psoriasis might be contributed by combined genotypes, complementing the traditional modest susceptibility of a single variant in a single gene for a complex disease. This work is the first systematic study to analyze genotype combinations based on the reported susceptibility genes, considering each individual among the cases and controls from the Chinese population, and could potentially advance disease-gene mapping and precision medicine due to the causality relationship between the candidate CGCPs and complex diseases.

Algoritmos , Predisposição Genética para Doença , Psoríase/genética , Adulto , Alelos , Cromossomos Humanos/genética , Feminino , Técnicas de Genotipagem , Humanos , Masculino , Polimorfismo de Nucleotídeo Único/genética , Inquéritos e Questionários
J Gene Med ; 19(9-10)2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28581127


BACKGROUND: The human major histocompatibility complex (MHC) is known to be highly polymorphic and has been identified to be associated with numerous diseases. The HLA-DPB1 and BTNL2 genes were associated with psoriasis for the first time. The present study aims to investigate the relevance of the HLA-DPB1 and BTNL2 genes with respect to clinical phenotypes of psoriasis vulgaris (PV). METHODS: To investigate whether the HLA-DPB1 and BTNL2 polymorphisms were associated with clinical phenotypes of PV in Chinese Han population, we conducted an analysis in case-controls and case-only subjects (9906 controls and 8744 cases) via MHC targeted sequencing stratified analysis. RESULTS: In cases and controls, analysis showed that the genotype of HLA-DPB1*05:01 was associated with type of guttate [p = 3.914 × 10-2 , odds ratio (OR = 0.9335)] and northern region (p = 1.182 × 10-3 , OR = 0.9108). In the case-only analysis, the genotype of HLA-DPB1*05:01 was significantly correlated with geographical region (p = 1.36 × 10-3 , OR = 1.134). In cases and controls, analysis showed that the genotype of BTNL2 (rs 41355746) was associated with being male (p = 2.563 × 10-2 , OR = 0.8897), early-onset (p = 9.399 × 10-3 , OR = 0.8856), guttate (p = 2.469 × 10-2 , OR = 0.8558) and family history (p = 1.51 × 10-4 , OR = 0.772). In the case-only analysis, the genotype of BTNL2 (rs41355746) was significantly correlated with family history (p = 1.768 × 10-3 , OR = 0.757) and age of onset (p = 3.818 × 10-2 , OR = 1.195). CONCLUSIONS: The results of the present study indicate that the HLA-DPB1*05:01 gene was associated with the geographical region of PV and the BTNL2 gene was significantly associated with family history and age of onset of PV. In conclusion, the HLA-DPB1*05:01 and BTNL2 genes might be responsible for the complicacy of clinical features.

Butirofilinas/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Cadeias beta de HLA-DP/genética , Fenótipo , Psoríase/diagnóstico , Psoríase/genética , Alelos , Grupo com Ancestrais do Continente Asiático , Butirofilinas/imunologia , Estudos de Casos e Controles , China/epidemiologia , Feminino , Frequência do Gene , Genótipo , Cadeias beta de HLA-DP/imunologia , Humanos , Masculino , Razão de Chances , Psoríase/epidemiologia , Psoríase/imunologia