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1.
J Cell Mol Med ; 23(8): 5340-5348, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31124601

RESUMO

The aim of our study was to assess the associations of HSP90AB1 copy number variations (CNVs) with systemic lupus erythematosus (SLE) risk and glucocorticoids (GCs) efficacy, as well as the relationship between HSP90AB1 single-nucleotide polymorphisms (SNPs) and GCs efficacy. HSP90AB1 CNVs and SLE risk were analysed in 519 patients and 538 controls. Patients treated with GCs were followed up for 12 weeks and were divided into sensitive and insensitive groups to investigate the effects of CNVs (419 patients) and SNPs (457 patients) on the efficacy of GCs. Health-related quality of life (HRQoL) was also measured by SF-36 at baseline and week 12 to explore the relationship between CNVs/SNPs and HRQoL improvements in Chinese SLE patients. Our results indicated a statistically significant association between HSP90AB1 CNVs and SLE (PBH  = 0.039), and this association was more pronounced in the female subgroup (PBH  = 0.039). However, we did not detect association of HSP90AB1 CNVs/SNPs with efficacy of GCs. But we found a marginal association between SNP rs13296 and improvement in Role-emotional, while this association was not strong enough to survive in the multiple testing corrections. Collectively, our findings suggest that the copy number of HSP90AB1 is associated with SLE susceptibility. But copy number and polymorphisms of HSP90AB1 may not be associated with efficacy of GCs.

2.
J Clin Rheumatol ; 2019 Feb 13.
Artigo em Inglês | MEDLINE | ID: mdl-30768443

RESUMO

OBJECTIVES: The aim of this study is to investigate whether heat shock protein 70 (Hsp70) gene polymorphisms are implicated in systemic lupus erythematous (SLE) susceptibility, the efficacy of glucocorticoids (GCs) treatment, and improvement of health-related quality of life. METHODS: A total of 499 SLE patients and 499 controls were included in a case-control study, and 468 SLE patients treated with GCs for 12 weeks were involved in a follow-up study. Patients who completed the 12-week follow-up were divided into GCs-sensitive and GCs-insensitive group by using the SLE disease activity index. The SF-36 was used to evaluate the health-related quality of life of SLE patients, and genotyping was performed by improved multiplex ligation detection reaction. RESULTS: rs2075800 was associated with SLE susceptibility (adjusted odds ratio [ORadj], 1.437; 95% confidence interval [CI], 1.113-1.855; Padj = 0.005; PBH = 0.020 by dominant model; ORadj, 1.602; 95% CI, 1.072-2.395; Padj = 0.022; PBH = 0.029 by TT vs CC model; ORadj = 1.396; 95% CI = 1.067-1.826; Padj = 0.015; PBH = 0.029 by TC vs CC model). In the follow-up study, rs2075799 was associated with the improvement in mental health (p = 0.004, PBH = 0.044), but we failed to find any association between the efficacy of GCs and Hsp70 gene polymorphisms. CONCLUSIONS: Hsp70 gene polymorphisms may be associated with susceptibility to SLE and improvement of mental health in Chinese Han population.

3.
Future Oncol ; 15(5): 495-505, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30648877

RESUMO

AIM: This study investigated the effect and mechanism of cold atmospheric plasma (CAP)-activated media on A431 and HaCaT cells. MATERIALS & METHODS: Phosphate-buffered saline (PBS) and Dulbecco's Modified Eagle's Medium (DMEM) were treated by CAP to get CAP-activated media. A431 and HaCaT were incubated by CAP-activated media for 2 h. MTT, Annexin-V and propidium iodide (PI), Western blot and reactive oxygen species (ROS) detection assay were utilized to demonstrate the effect. RESULTS: The CAP-activated media decreased the proliferation of A431 cells in a dose/time-dependent manner. And the CAP-activated media could induce apoptosis in A431 cells. CAP-activated phosphate-buffered saline could increase intracellular ROS level but not CAP-activated DMEM. CONCLUSION: CAP-activated media could induce apoptosis in A431 cells by production of ROS.


Assuntos
Sobrevivência Celular/efeitos dos fármacos , Gases em Plasma/farmacologia , Apoptose/efeitos dos fármacos , Carcinoma de Células Escamosas/metabolismo , Linhagem Celular Tumoral , Humanos , Espécies Reativas de Oxigênio/metabolismo , Neoplasias Cutâneas/metabolismo
4.
Genes Genomics ; 40(10): 1069-1079, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-29907909

RESUMO

Although the current glucocorticoids (GCs) treatment for systemic lupus erythematosus (SLE) is effective to a certain extent, the difference in therapeutic effect between patients is still a widespread problem. Some patients can have repeated attacks that greatly diminish their quality of life. This study was conducted to investigate the relationship between HSP90AA2 polymorphisms and disease susceptibility, GCs efficacy and health-related quality of life (HRQoL) in Chinese SLE patients. A case-control study was performed in 470 SLE patients and 470 normal controls. Then, 444 patients in the case group were followed up for 12 weeks to observe efficacy of GCs and improvement of HRQoL. Two single nucleotide polymorphisms (SNPs) of HSP90AA2 were selected for genotyping: rs1826330 and rs6484340. HRQoL was assessed using the SF-36 questionnaire. The minor T allele of rs1826330 and the TT haplotype formed by rs1826330 and rs6484340 showed associations with decreased SLE risk (T allele: PBH = 0.022; TT haplotype: PBH = 0.033). A significant association between rs6484340 and improvement of HRQoL was revealed in the follow-up study. Five subscales of SF-36 were appeared to be influenced by rs6484340: total score of SF-36 (additive model: PBH = 0.026), physical function (additive model: PBH = 0.026), role-physical (recessive model: PBH = 0.041), mental health (dominant model: PBH = 0.047), and physical component summary (additive model: PBH = 0.026). No statistical significance was found between HSP90AA2 gene polymorphisms and GCs efficacy. These results revealed a genetic association between HSP90AA2 and SLE. Remarkably, HSP90AA2 has an impact on the improvement of HRQoL in Chinese population with SLE.

5.
J Invest Dermatol ; 138(11): 2307-2314, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29857070

RESUMO

To identify possible additional genetic susceptibility loci for pemphigus vulgaris (PV), we performed a genome-wide association study of 240 PV patients and 1,031 control individuals, and we selected the top single nucleotide polymorphisms for replication in independent samples, with 252 patient samples and 1,852 control samples. We identified rs11218708 (P = 3.1 × 10-8, odds ratio = 1.54) at chromosome locus 11q24.1 as significantly associated with PV. A fine-mapping analysis of PV risk in the major histocompatibility complex region showed three independent variants predisposed to PV using stepwise analysis: HLA-DRB1*14:04 (P = 2.47 × 10-38, odds ratio = 6.28), rs7454108 at the TAP2 gene (P = 2.78 × 10-12, odds ratio = 3.25), and rs1051336 at the HLA-DRA gene (P = 3.06 × 10-6, odds ratio = 0.33). A systematic evaluation using gene- and pathway-based analyses showed a high tendency for PV susceptibility genes to be associated with autoimmunity. Our study highlights the involvement of immune-mediated processes in the pathophysiology of PV and illustrates the value of imputation to identify variants in the major histocompatibility complex region.

6.
Gene ; 2018 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-29859285

RESUMO

New functions of tumor necrosis factor receptor-associated protein 1 (TRAP1) have been investigated recently. This study explored if TRAP1 gene polymorphisms in patients with systemic lupus erythematosus (SLE) are associated with disease susceptibility and the efficacy of glucocorticoids (GCs). A case control study was performed to explore the association between TRAP1 gene polymorphisms and susceptibility to SLE, then the SLE patients included in the case control study were followed to investigate the relationship between TRAP1 gene polymorphisms and efficacy of GCs. We also compared the improvement in health related quality of life (HRQOL) of patients among different genotypes of TRAP1 gene. The Benjamini-Hochberg (BH) method was used to correct for multiple comparison. In case control study, the significant association between rs8055172 and the susceptibility to SLE was discovered in the dominant model (p = 3.54 × 10-7), which is further supported by the different distributions of haplotype TT and TC of rs2072379 and rs8055172 (p = 4.26 × 10-4 and p = 6.93 × 10-9). In the dominant model, rs3751842 and rs1639150 may be associated with fever of SLE patients (p = 0.035 and p = 0.028), while rs2072379 and rs12597773 related to oral ulcers (p = 0.021) and hematological system (p = 0.035) respectively. In the follow-up study, rs6500552 showed a significant relationship with the efficacy of GCs in SLE patients in the dominant model (p = 0.004). Besides, rs3794701 was associated with the improvement in role-emotional (RE) of SLE patients in dominant model (p = 0.029). The results supported that TRAP1 gene polymorphisms may be associated with susceptibility to SLE and efficacy of GCs in SLE patients.

7.
Am J Clin Exp Immunol ; 7(2): 27-39, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29755855

RESUMO

Objective: The aim of this study was to investigate the associations between HSP90B1 gene polymorphisms and the efficacy of glucocorticoids (GCs) and the improvement of health-related quality of life (HRQoL) in Anhui patients with systemic lupus erythematosus (SLE). Method: A total of 305 patients with SLE were recruited to the study. These patients were treated with GCs for 12 weeks and classified into two groups (sensitivity and insensitivity) according to the response to GCs measured by the scores on SLE disease activity index (SLEDAI). The HRQoL of SLE patients were evaluated by 36-item Short Form Health Survey (SF-36) at baseline and 12 weeks respectively. HapMap database and Haploview software were used to select HSP90B1 gene tag single nucleotide polymorphisms (SNPs). Benjamini & Hochberg (BH) method based on false discovery rate (FDR) was used for multiple testing correction. Results: A total of 291 patients were included in final data analysis with 14 patients excluded due to loss to follow-up. Among these patients, 160 patients were sensitive to GCs and 131 patients were insensitive to GCs. Twelve tag SNPs of HSP90B1 gene were selected. The rs12426382 polymorphism was associated with the efficacy of GCs (dominant model: crude OR=0.514, 95% CI=0.321-0.824, P=0.006; adjusted OR=0.513, 95% CI=0.317-0.831, P=0.007). After BH correction, there was no association between rs12426382 polymorphism and efficacy of GCs (PBH =0.084). In haplotype analysis, the haplotype CCCGAACATCCC (OR=2.273, 95% CI=1.248-4.139, P=0.006) and CTGGGACGTTC (OR=0.436, 95% CI=0.208-0.916, P=0.025) showed significant associations with the efficacy of GCs. After corrected by BH method, CCCGAACATCCC was still associated with the efficacy of GCs (PBH =0.048). The rs3794241, rs1165681, rs2722188, rs3794240 and rs10861147 polymorphisms were associated with the improvement of HRQoL among SLE patients (P < 0.05). But no association existed after the correction of BH method (P > 0.05). Conclusions: The results of this study demonstrated that HSP90B1 genetic polymorphisms might be associated with the efficacy of GCs, but not associated with the improvement of HRQoL in Anhui population with SLE.

9.
Ann Rheum Dis ; 77(3): 417, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29233832

RESUMO

OBJECTIVES: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease of considerable genetic predisposition. Genome-wide association studies have identified tens of common variants for SLE. However, the majority of them reside in non-coding sequences. The contributions of coding variants have not yet been systematically evaluated. METHODS: We performed a large-scale exome-wide study in 5004 SLE cases and 8179 healthy controls in a Han Chinese population using a custom exome array, and then genotyped 32 variants with suggestive evidence in an independent cohort of 13 246 samples. We further explored the regulatory effect of one novel non-coding single nucleotide polymorphism (SNP) in ex vivo experiments. RESULTS: We discovered four novel SLE gene regions (LCT, TPCN2, AHNAK2 and TNFRSF13B) encompassing three novel missense variants (XP_016859577.1:p.Asn1639Ser, XP_016859577.1:p.Val219Phe and XP_005267356.1:p.Thr4664Ala) and two non-coding variants (rs10750836 and rs4792801) with genome-wide significance (pmeta <5.00×10-8). These variants are enriched in several chromatin states of primary B cells. The novel intergenic variant rs10750836 exhibited an expression quantitative trait locus effect on the TPCN2 gene in immune cells. Clones containing this novel SNP exhibited gene promoter activity for TPCN2 (P=1.38×10-3) whose expression level was reduced significantly in patients with SLE (P<2.53×10-2) and was suggested to be further modulated by rs10750836 in CD19+ B cells (P=7.57×10-5) in ex vivo experiments. CONCLUSIONS: This study identified three novel coding variants and four new susceptibility gene regions for SLE. The results provide insights into the biological mechanism of SLE.

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

RESUMO

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.


Assuntos
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
11.
Lasers Med Sci ; 32(8): 1889-1893, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28812167

RESUMO

The aim of this study was to compare the efficacy and adverse effects of a 595-nm pulsed dye laser therapy alone (PDL alone) with a 5-aminolevulinic (5-ALA) local application followed by a 595-nm PDL (5-ALA PDL) in the treatment of superficial hemangioma (SH). A prospectively randomized study in 181 patients with SH was carried out over a period of 24 months. One hundred and ninety-three patients were seen. One hundred and eighty-one patients with SH were enrolled, of which 165 completed final follow-up. One hundred and nineteen patients received PDL alone and 46 received 5-ALA PDL. The patients were assessed clinically and the patient's parents were given a satisfaction questionnaire. Baseline patient data (gender, lesion size, lesion site, treatment times, cure rate, and adverse reactions) were recorded and the results of the treatment of the two groups were analyzed and compared. Complete clearing of the lesion (recovery grade 4) was achieved in 44/119 (37.0%) of the PDL alone group and 31/46 (67.4%) of the 5-ALA PDL group (X 2 = 10.30, p < 0.001). Atrophic scars, hyper- and hypopigmentation occurred in both groups (X 2 = 3.32, p = 0.564). The patients' parents' satisfaction was greater in the 5-ALA PDL group. The clinical outcome of 5-ALA PDL was superior to that of PDL alone in the treatment of SH and only minor adverse events occurred in each group.


Assuntos
Ácido Aminolevulínico/uso terapêutico , Hemangioma/radioterapia , Lasers de Corante/uso terapêutico , Administração Tópica , Feminino , Hemangioma/cirurgia , Humanos , Lactente , Lasers de Corante/efeitos adversos , Terapia com Luz de Baixa Intensidade/efeitos adversos , Masculino , Satisfação do Paciente , Estudos Prospectivos
13.
Springerplus ; 5: 222, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27026916

RESUMO

Heat shock protein 90 (HSP90) is an important glucocorticoid receptor (GR) chaperone protein, and is supposed to be the key factor in regulating glucocorticoids (GCs) effects. The aim of the present study was to explore whether single nucleotide polymorphisms (SNPs) within HSP90AA1 gene affect the response of systemic lupus erythematosus (SLE) patients to GCs treatment. Two hundred and forty-five SLE patients were treated with GCs (prednisone) for 12 weeks. SLE disease activity index (SLEDAI) was used to assess the response of SLE patients to GCs treatment, and patients were classified into sensitive group and insensitive group. HapMap database and Haploview software were used to select tag SNPs. Tag SNPs were genotyped by using multiplex SNaPshot method. Univariate and multivariate logistic regression analyses were used to discriminate the impact of SNPs of HSP90AA1 gene on the response of SLE patients to GCs treatment. Two hundred and thirty three SLE patients finished the 12-week follow-up. Of these patients, 128 patients were included in sensitive group, and 105 patients were included in insensitive group. Seven tag SNPs were selected within HSP90AA1 gene. We detected significant associations for rs7160651 (dominant model: crude OR 0.514, 95 % CI 0.297-0.890, P = 0.018; adjusted OR 0.518, 95 % CI 0.293-0.916, P = 0.024), rs10873531 (dominant model: crude OR 0.516, 95 % CI 0.305-0.876, P = 0.014; adjusted OR 0.522, 95 % CI 0.304-0.898, P = 0.019) and rs2298877 (dominant model: crude OR 0.543, 95 % CI 0.317-0.928, P = 0.026, adjusted OR 0.558, 95 % CI 0.323-0.967, P = 0.037) polymorphisms, but not for other polymorphisms (P > 0.05). The present study demonstrates that HSP90AA1 gene SNPs may affect the response of SLE patients to GCs treatment.

14.
J Invest Dermatol ; 136(4): 779-787, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26743604

RESUMO

Psoriasis is a chronic hyperproliferative and inflammatory skin disease caused by the interplay of genetic and environmental factors. DNA methylation has been linked to psoriasis, but the manner in which this process contributes to the disease is not fully understood. In this study, we carried out a three-stage epigenome-wide association study to identify disease-associated differentially methylated sites using a combination of 262 skin and 48 peripheral blood mononuclear cell samples. We not only revealed genome-wide methylation patterns for psoriasis but also identified strong associations between the skin-specific DNA methylation of nine disease-associated differentially methylated sites and psoriasis (Wilcoxon ranked PBonferroni < 0.01; methylation level difference > 0.10). Further analysis revealed that these nine disease-associated differentially methylated sites were not significantly affected by genetic variations, supporting their remarkable contributions to disease status. The expression of CYP2S1, ECE1, EIF2C2, MAN1C1, and DLGAP4 was negatively correlated with DNA methylation. These findings will help us to better understand the molecular mechanism of psoriasis.


Assuntos
Metilação de DNA , Epigenômica , Estudo de Associação Genômica Ampla , Psoríase/genética , Pele/metabolismo , Proteínas Argonauta/genética , Ácido Aspártico Endopeptidases/genética , Ilhas de CpG , Sistema Enzimático do Citocromo P-450/genética , Enzimas Conversoras de Endotelina , Epigênese Genética , Variação Genética , Humanos , Leucócitos Mononucleares/metabolismo , Manosidases/genética , Metaloendopeptidases/genética , Proteínas do Tecido Nervoso/genética , Polimorfismo de Nucleotídeo Único , Proteínas Associadas SAP90-PSD95 , Pele/patologia
17.
Clin Rheumatol ; 34(9): 1537-44, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26255187

RESUMO

In our previous study, we found that glucocorticoid receptor (GR) gene genetic polymorphisms may play a major role in the efficacy of glucocorticoids (GCs) in Chinese systemic lupus erythematosus (SLE) patients. The aim of this study is to explore the association of GR gene genetic polymorphisms and improvement of health-related quality of life (HRQOL) in Chinese SLE patients treated with GCs. A total of 195 Chinese SLE patients were treated with GCs for 12 weeks. The HRQOL of patients was measured with the Medical Outcomes Study Short Form-36 (SF-36) at baseline and 12 weeks. Polymorphisms of GR gene were genotyped by using multiplex SNaPshot method. One hundred eighty-four patients (94.36 %) completed the 12-week follow-up. Twenty-three single-nucleotide polymorphisms of GR gene were genotyped. There was a significant association between rs10482672 polymorphism and improvement in physical function (P = 0.043), general health (P = 0.024), and social function (P = 0.013). The rs12656106 polymorphism was associated with improvement in the total score of SF-36 (P = 0.014), physical function (P = 0.013), general health (P = 0.010), vitality (P = 0.015), social function (P = 0.004), physical component summary (P = 0.016), and mental component summary (P = 0.014). The rs4912905 polymorphism was associated with improvement in bodily pain (P = 0.040) and general health (P = 0.038). The rs4912911 polymorphism was associated with improvement in general health (P = 0.026) and vitality (P = 0.027). The rs4986593 polymorphism was associated with improvement in bodily pain (P = 0.034). The rs7719514 polymorphism was associated with improvement in vitality (P = 0.002) and mental component summary (P = 0.041). We also found a significant association between rs9324924 polymorphism and improvement in physical function (P = 0.040), bodily pain (P = 0.007), and general health (P = 0.019). These results indicate that there may be an association of GR gene rs10482672, rs12656106, rs4912905, rs4912911, rs4986593, rs7719514, and rs9324924 polymorphisms with improvement of HRQOL in Chinese SLE patients treated with GCs.


Assuntos
Glucocorticoides/uso terapêutico , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Polimorfismo de Nucleotídeo Único/genética , Prednisona/uso terapêutico , Qualidade de Vida , Receptores de Glucocorticoides/genética , Adulto , Antirreumáticos/uso terapêutico , Grupo com Ancestrais do Continente Asiático , China , Quimioterapia Combinada , Feminino , Genótipo , Humanos , Hidroxicloroquina/uso terapêutico , Masculino , Adulto Jovem
18.
Nat Commun ; 6: 6793, 2015 04 09.
Artigo em Inglês | MEDLINE | ID: mdl-25854761

RESUMO

Genome-wide association studies (GWASs) have reproducibly associated ∼40 susceptibility loci with psoriasis. However, the missing heritability is evident and the contributions of coding variants have not yet been systematically evaluated. Here, we present a large-scale whole-exome array analysis for psoriasis consisting of 42,760 individuals. We discover 16 SNPs within 15 new genes/loci associated with psoriasis, including C1orf141, ZNF683, TMC6, AIM2, IL1RL1, CASR, SON, ZFYVE16, MTHFR, CCDC129, ZNF143, AP5B1, SYNE2, IFNGR2 and 3q26.2-q27 (P<5.00 × 10(-08)). In addition, we also replicate four known susceptibility loci TNIP1, NFKBIA, IL12B and LCE3D-LCE3E. These susceptibility variants identified in the current study collectively account for 1.9% of the psoriasis heritability. The variant within AIM2 is predicted to impact protein structure. Our findings increase the number of genetic risk factors for psoriasis and highlight new and plausible biological pathways in psoriasis.


Assuntos
Grupo com Ancestrais do Continente Asiático/genética , Psoríase/genética , Proteínas Adaptadoras de Transporte Vesicular/genética , Adolescente , Adulto , Estudos de Casos e Controles , Proteínas Ricas em Prolina do Estrato Córneo/genética , Proteínas de Ligação a DNA/genética , Exoma/genética , Feminino , Predisposição Genética para Doença , Humanos , Proteínas I-kappa B/genética , Proteína 1 Semelhante a Receptor de Interleucina-1 , Subunidade p40 da Interleucina-12/genética , Peptídeos e Proteínas de Sinalização Intracelular/genética , Masculino , Proteínas de Membrana/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Proteínas dos Microfilamentos/genética , Pessoa de Meia-Idade , Antígenos de Histocompatibilidade Menor , Inibidor de NF-kappaB alfa , Proteínas do Tecido Nervoso/genética , Proteínas Nucleares/genética , Polimorfismo de Nucleotídeo Único , Receptores de Detecção de Cálcio/genética , Receptores de Superfície Celular/genética , Receptores de Interferon/genética , Serina Endopeptidases/genética , Transativadores/genética , Adulto Jovem
19.
J Dermatol ; 42(6): 608-12, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25808444

RESUMO

In our previous meta-analysis of genome-wide association study, we identified the single nucleotide polymorphism (SNP) rs4948496 (P = 5.1 × 10(-11) , odds ratio [OR] = 0.85) within the ARID5B gene associated with systemic lupus erythematosus (SLE) in a Chinese population. To investigate its association with disease subphenotypes, we further analyzed the genotype data of rs4948496 in 4348 cases and 6679 controls from our previous meta-analysis and an independent replication cohort in this study. The SNP rs4948496 was significantly associated with SLE (P = 1.61 × 10(-5) , OR = 0.88, 95% confidence interval [CI] = 0.83-0.93) in our group. In case-only study, the genotype of rs4948496 was associated with antinuclear antibodies (P = 0.03, OR = 0.81, 95% CI = 0.68-0.98) and anti-RNP (P = 0.03, OR = 0.86, 95% CI = 0.76-0.99). This study showed that rs4948496 in ARID5B is associated with several subphenotypes of SLE and this gene may cause the complicacy of clinical features.


Assuntos
Grupo com Ancestrais do Continente Asiático/genética , Proteínas de Ligação a DNA/genética , Lúpus Eritematoso Sistêmico/genética , Fatores de Transcrição/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Anticorpos Antinucleares/sangue , Estudos de Casos e Controles , Criança , Pré-Escolar , China/etnologia , Feminino , Genótipo , Humanos , Lactente , Lúpus Eritematoso Sistêmico/sangue , Lúpus Eritematoso Sistêmico/etnologia , Masculino , Pessoa de Meia-Idade , Fenótipo , Polimorfismo de Nucleotídeo Único , Adulto Jovem
20.
J Dermatolog Treat ; 26(1): 54-8, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23697537

RESUMO

UNLABELLED: Abstract Background: The 595 nm tunable pulsed dye laser has been used in China for more than 10 years. However, no studies about its effect and side-effect in treatment of superficial hemangioma have been documented. OBJECTIVE: This study was designed to retrospectively summarize its usage in Chinese patients. METHODS: Infant patients with superficial hemangioma, who had received 595 nm tunable pulsed dye laser treatment in our laser center in the last 10 years, were recruited. Detailed demographics, results of assessment about their degree of clearance and clinical examination for treatment complications were entered into SASS10.0 version database, and statistical analyses were conducted. RESULTS: Six hundred and fifty-seven cases with superficial hemangioma were recruited. The overall effectiveness rate was 91.17%. Female patients respond better than male, the difference was statistically significant (p<0.001). Lesions at different part of the body respond differently to the treatment with lesions on extremities show the best result. The response rate does not increase with time of treatments. The most common side-effects were pigment changes and skin atrophy, which usually resolve spontaneously and disappear completely in a few months. CONCLUSIONS: Our experience confirmed the satisfactory clinical efficacy and safety of the 595 nm tunable pulse dye laser in the treatment of childhood superficial hemangioma.


Assuntos
Hemangioma/cirurgia , Lasers de Corante/uso terapêutico , Dermatopatias/patologia , Neoplasias Cutâneas/cirurgia , Grupo com Ancestrais do Continente Asiático , China , Feminino , Hemangioma/patologia , Humanos , Lactente , Lasers de Corante/efeitos adversos , Masculino , Estudos Retrospectivos , Neoplasias Cutâneas/patologia , Resultado do Tratamento
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