Background The pathological mechanisms associated with the occurrence and development of Behcet’s disease (BD) are not yet known. Two large genome-wide association surveys revealed an association between interleukin (IL)-23R single nucleotide polymorphism and BD. This study aimed to investigate the association between IL-23R gene polymorphisms and BD susceptibility.Methods Comprehensive literature search was performed across four online databases – PubMed, Embase, Cochrane Library, and Web of science. The included studies had to be published before May 15, 2019. The Newcastle–Ottawa scale was used to assess the quality of every included study, and pooled odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated using the allele model of inheritance to evaluate the potential associations between IL-23R gene polymorphisms and BD risk.Results In all, 12 case-control studies comprising 6,926 BD patients and 10,211 controls were identified and included in this meta-analysis, in which 5 loci of IL-23R gene polymorphisms were investigated. Of these 5 loci, 2 were found to be significantly associated with BD susceptibility: rs17375018 (G vs. A, OR = 1.50, 95% CI: 1.34–1.68, P < .00001) and rs924080 (T vs. C, OR = 1.36, 95% CI: 1.29–1.43, P < .00001). Only a systematic review was conducted for rs12119179, rs11209032, and rs12141431, owing to the lack of sufficient data.Conclusion This meta-analysis indicated that rs17375018 (G/A) and rs924080 (T/C) were associated with BD susceptibility. However, association of the other IL-23R polymorphisms could not be estimated owing to the lack of studies.Abbreviations BD: Behcet’s disease; SNP: single nucleotide polymorphism; HLA: human leukocyte antigen; IL: interleukin; OR: odds ratio; CI: confidence interval; HWE: Hardy–Weinberg equilibrium; UK: United Kingdom; NOS: Newcastle–Ottawa scale; GWAS: genome-wide association study; TNF-α: tumor necrosis factor-α
To map and identify the disease gene for the epidermolytic palmoplantar keratoderma (EPPK) in a Uighur family of China.Blood samples were collected and genomic DNA was extracted from 48 members of the Xinjiang Uighur family. Six microsatellite repeat sequences on chromosome region 17q12-q21 and 12q13 were selected based on the two known candidate genes KRT9 and KRT1. Two-point linkage analysis and haplotype analysis were performed. Exons and their flanking intronic sequence of the KRT9 gene were amplified by polymerase chain reaction (PCR) and sequenced.Data from the marker D17S1787 suggested linkage and yielded a Lod score of 8.65 at theta=0 by using MLINK software. Genotypes and haplotypes were acquired. The disease gene of the EPPK family is located between markers 17/TG/36620115 and D17S846. Chromosome 12q13 region was excluded with the negative Lod score obtained in marker D12S96 (Lod=-infinity at theta=0). No pathogenic mutation was detected in the KRT9 gene.The disease gene of the EPPK family is located on chromosome region 17q21.2. The keratin 9 gene might not be the disease gene.
Objective To detect the expression of BRAF V600E mutant protein in cutaneous malignant melanoma (CMM),and to evaluate the sensitivity and specificity of immunohistochemistry (IHC) in detecting BRAF V600E mutation.Methods IHC with an anti-BRAF V600E monoclonal antibody was performed to detect the expression of BRAF V600E mutant protein in paraffin-embedded tissue sections from 103 patients with CMM and 40 patients with nevus.Statistical analysis was carried out with SPSS software version 17.0,and the expression rate of BRAF V600E mutant protein was compared by chi-square test.Results The expression rate of BRAF V600E mutant protein in the CMM patients was 20.4％ (21/103),significantly higher than that in the nevus patients (5.0％ (2/40),x2 =5.06,P ＜ 0.05).Significant differences were observed in the expression rate of BRAF V600E mutant protein between CMM patients of different age groups (29.8％ (14/47) in patients aged ＜ 60 years vs.12.5％ (7/56) in those aged ≥ 60 years,P ＜ 0.05) and nationality (30.2％ (13/43) for Uygur nationality vs.13.3％ (8/60) for Han nationality,P ＜ 0.05),as well as among CMM lesions from different anatomical sites (13.6％ (6/42) in acral sites vs.11.8％ (4/29) in mucous membrane vs.45.8％ (11/32) in non-acral sites,P ＜ 0.05) and of different Clark levels (8.6％ (4/42) for grade Ⅰ-Ⅲ vs.12.4％ (17/61) for grade Ⅳ-Ⅴ,P＜ 0.05),but not between male and female CMM patients or between CMM patients with lymph node metastasis and those without (both P ＞ 0.05).IHC with the anti-BRAF V600E antibody showed a sensitivity of 100％ (15/15) and a specificity of 98.5％ (65/66) in detecting BRAF V600E mutation.Conclusions The expression of BRAF V600E mutant protein is up-regulated in CMM lesions,and CMM patients of Uygur nationality seems to have a higher expression rate than those of Han nationality.IHC appears to be an accurate and rapid method to detect V600E BRAF mutation.
Key words:
Melanoma; Mutation; Proto-oncogene proteins B-raf
Psoriasis and metabolic syndrome are two common clinical conditions,and often occur concurrently.Psoriasis is a chronic,relapsing,multifactorial inflammatory skin disease,whose pathogenesis is associated with genetic factors,immunological factors,infection,smoking,mental stress and other environmental factors.Metabolic syndrome is a pathological condition primarily presenting as central obesity accompanied by hyperglycemia,hypertension,lipid disorders and other metabolic abnormalities.The pathogenesis of psoriasis is closely related to that of metabolic syndrome,and some cytokines are simultaneously involved in their pathogenesis.To study metabolic syndrome may provide new targets for the treatment of psoriasis.
Key words:
Psoriasis; Metabolic syndrome; Pathogenesis
Kaposi's sarcoma (KS) is a multicentric angioproliferative tumor of mesenchymal origin. The molecular and biologic aspects of KS are not fully understood. MicroRNAs are non-protein-coding small RNAs in the size range 19-25 nucleotides (nt) that play important roles in biological processes, including cellular differentiation, proliferation, and death. We performed a miRNA microarray analysis by detecting six paired KS and matched adjacent healthy tissues using the 7th generation of miRCURY(TM) LNA Array (v.18.0) (Exiqon) containing 3100 capture probes. We selected 10 significant differentially expressed miRNAs, which were confirmed by quantitative real-time reverse transcription polymerase chain reaction (qRT-PCR) in 18 paired KS and matched adjacent healthy tissue specimens. We also investigated the associations between clinical features and miRNA expression. Among the 3100 human miRNA probes in the microarrays, we identified 170 differentially expressed miRNAs (69 upregulated and 101 downregulated miRNAs) in KS versus adjacent healthy tissues. Among the most significantly upregulated miRNAs were miR-126-3p, miR-199a-3p, miR-16-5p, and the 13 KSHV-related miRNAs. The most significantly downregulated miRNAs included miR-125b-1-3p and miR-1183. Eight upregulated miRNAs, miR-181b-5p, miR-199a-3p, miR-15a-5p, miR-126-3p, miR-1297, kshv-miR-k12-12-3p, kshv-miR-k12-1-5p, and miR-16-5p, and two downregulated miRNAs, miR-125b-1-3p and miR-1183, were confirmed by qRT-PCR in 18 paired KS samples. The qRT-PCR results for 10 miRNAs were consistent with our microarray results. The miR-125b-1-3p and miR-16-5p had statistically significant associations with HHV-8 and HIV infections in KS. The results of miRNA profiling showed that KS appears to have unique expression patterns when compared with paired adjacent healthy tissues, suggesting that deregulation of miRNAs plays an important role in the progression of KS. These differentially expressed miRNAs may provide novel diagnostic and prognostic tools.
Objective
To assess clinical features of and treatment protocols for pemphigus vulgaris (PV) in patients of Han or Uygur nationality in Xinjiang Uygur Autonomous Region.
Methods
Clinical data were collected from 61 inpatients with PV of Han or Uygur nationality, and analyzed retrospectively.
Results
Of the 61 patients, 44 (72.13%) had oral and/or vulval ulcer, 49 (80.33%) positive Nikolsky′s sign; 52 (85.25%) suffered from different degrees of itching, and 30 (49.18%) from hypoproteinemia. Glucocorticoids alone are effective for mild to moderate PV, while immunosuppressive agents and gamma globulin should be combined to control severe PV. Compared with patients of Han nationality, those of Uygur nationality showed increased frequency of mucosal involvement, incidence of hypoproteinemia, and elevated blood sedimentation rate (all P < 0.05) .
Conclusion
In this study, the patients of Uygur nationality showed a higher proportion of severe PV cases compared with those of Han nationality.
Key words:
Pemphigus; Clinical protocols; Glucocorticoids; Uygur nationality; Retrospective studies
Abstract Background: To date, The pathological mechanisms underlying the occurrence and development of psoriasis are still unanswered questions. Genome-wide association surveys have revealed that TNFAIP3 and TNIP1 were key biomarkers for psoriasis. This study aimed to investigate the association between TNFAIP3 and TNIP1 gene polymorphisms with psoriasis susceptibility.Methods Comprehensive literature search was undertook across four online databases—PubMed, Embase, Cochrane Library, and China National Knowledge Infrastructure (CNKI) up to August 25, 2019. Allele model of inheritance was used to analyze the original data. Newcastle–Ottawa scale (NOS) was used to evaluate the risk bias of each study. Pooled odds ratios and 95% confidence intervals were calculated using the RevMan 5.3 software.Results In all, 13 case-control studies comprising 13,908 psoriasis patients and 20,051 controls were identified and included in this meta-analysis. The results demonstrated that rs610604 in TNFAIP3 polymorphism was significantly associated with psoriasis risk using random effect model (G vs. T, OR = 1.19, 95% CI: 1.09–1.31, P = 0.0002), and a significant association between rs17728338 in TNIP1 polymorphism and psoriasis vulnerability using fixed effect model (A vs. G, OR = 1.69, 95% CI:1.58–1.80, P < 0.00001).Conclusions This meta-analysis indicated that rs610604 in TNFAIP3 and rs17728338 in TNIP1 gene polymorphisms were associated with psoriasis susceptibility.
Objective To approch acne characteristics and to facilitate its treatment by comparing the skin physiology function of patients with acne and healthy individuals.Methods Forty patients with acne and 40 healthy controls were included into this study.Cutometer,Sebumeter,Corneometer,Tewameter,and Mexameter were used,respectively,to measure the skin elasticity,sebum,water,t rans-epidermis water loss and red pigment index in the following facial areas:forehead,lateral canthus,right and left cheek,right and left U-zone.Results A significant increase was observed in the level of sebum in the forehead,right and left cheek of patients as compared with controls (P＜ 0.05).A significant decrease was observed in the level of water in the right and left cheek and U-zone of patients compared with controls (P＜0.05).A significant decrease was observed in the level of trans-epidermis water loss in the right and left cheek and forehead of patients compared with controls (P＜0.05).A significant increase was observed in the level of red pigment index in the right and left cheek,forehead,right and left U-zone of patients compared with controls (P＜0.05).However,the level of skin elasticity was of no significant difference between the patients and controls (P＞0.05).Conclusions Compared with the controls facial sebum secretion is increased with reduced skin barrier function in patients with acne.
Key words:
Acne; Skin; Elasticity; Sebum; Water; Red pigment
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