MHC haplotypic association in Chinese Han patients with vitiligo

BACKGROUND: Serological typing of the human leucocyte antigen (HLA) has shown discrepancies in HLA associations with vitiligo in different ethnic populations. OBJECTIVE: To evaluate the distributions of HLA at class I and II loci that may contribute to the genetic susceptibility of vitiligo patients in Chinese Hans population. METHODS: We analysed the allelic frequencies of HLA class I and II by using the polymerase chain reaction sequence-specific primer (PCR-SSP) method in 187 patients with vitiligo and 273 controls in Chinese Hans. The linkage disequilibrium was calculated from a 2 x 2 table. RESULTS: Two-locus haplotypes including HLA-A25-B13, HLA-A25-B27, HLA-A25-Cw*0602, HLA-A25-DQA1*0302, HLA-A25-DQA1*0601, HLA-A25-DQB1*0303, HLA-B13-Cw*0602, HLA-B13-DQA1*0302, HLA-B13-DQA1*0601, HLA-B27-Cw*0602, HLA-B27-DQA1*0302, HLA-B27-DQA1*0601, HLA-B27-DQB1*0303, HLA-B27-DQB1*0503, HLA-Cw*0602-DQA1*0302, HLA-Cw*0602-DQA1*0601, HLA-Cw*0602-DQB1*0303, HLA-Cw*0602-DQB1*0503 and HLA-DQA1*0302-DQB1*0503 were associated with all types of vitiligo in Chinese Hans. The extended haplotypes HLA-A25-B13-Cw*0602, HLA-A25-B27-Cw*0602, HLA-DQA1*0302-DQB1*0303-Cw*0602 and HLA-B13-DQB1*0303-Cw*0602 were found to be associated with all types of vitiligo in Chinese Hans, whereas the frequency of HLA-A25-Cw*0602-DQA1*0302 was significantly increased in generalized vitiligo but not in localized vitiligo. The frequencies of HLA-A25-DQA1*0302-DQB1*0503 and HLA-A30-DQA1*0302-DQB1*0303 were higher in childhood vitiligo than in adult vitiligo, and the frequency of HLA-A25-B13-DQB1*0303-Cw*0602 was shown to be associated with adult vitiligo but not childhood vitiligo. CONCLUSION: This study demonstrates not only the differential association between HLA markers and types of vitiligo according to distribution or age at onset but also newly found high-risk haplotypes in Chinese vitiligo patients.     

The association of polymorphisms of the vitamin D receptor gene with psoriasis in the Han population of northeastern China

BackgroundThe vitamin D receptor (VDR) is a master regulator of epidermal barrier function, inflammation, stem-cell proliferation, and microbial defense.ObjectiveTo evaluate the association between the VDR and psoriasis in the northeastern Chinese Han population.MethodsIn this case–control study, 342 patients with psoriasis and 341 controls were genotyped for five common VDR gene polymorphisms (ApaI, TaqI, BsmI, FokI, and Cdx2) by the Multiplex SNapSHOT method.ResultsThe frequency of ApaI (rs7975232) allele A was significantly increased in psoriasis relative to the control group (27.8% vs. 22.1%, p = 0.018); the allele A of the ApaI polymorphism showed a 1.35-fold increased risk of developing psoriasis. Haplotype analyses showed the BsmI/ApaI/TaqI/Cdx2/FokI GATGC to be significantly over-represented in psoriasis patients compared with controls (p = 0.012). The BsmI/ApaI/TaqI haplotype GCT was presented to a lesser extent in psoriasis patients in comparison with control patients (72.2% vs. 77.9%, p = 0.012).ConclusionsThese data suggest that VDR polymorphisms are associated with psoriasis in Northeastern Han Chinese population.     

A pleiotropic effect of the APOE gene: association of APOE polymorphisms with multibacillary leprosy in Han Chinese from Southwest China

This is a study by investigators from the Chinese Academy of Sciences and Dermatology departments based in Yunnan province in China. Basing their research on a previous observation that patients with leprosy have a lower frequency of dementia due to Alzheimer's Disease than patients without, they investigated whether there was any link between the occurrence of leprosy and the human genes involved in the formation and breakdown of different lipids or fats, processes that are key steps in the development of both Alzheimer's disease as well as the invasion of skin and nerves in leprosy. They searched for a link between a gene called Apolipoprotein E (APOE) which is known to be involved in Alzheimer's and found that certain mutations in the gene were more common in patients with leprosy. They suggested that this might lead to an increase in a lipid binding protein found in blood plasma and that this in turn would aid the survival of the bacteria that cause leprosy, Mycobacterium leprae, thus allowing it to spread and the disease to develop.     

No association of cytokine gene polymorphisms in Chinese patients with atopic dermatitis

BACKGROUND: Atopic dermatitis (AD) is a common chronically relapsing skin disease associated with the activation of T-helper 2 cells. Recent studies have shown that polymorphisms in the genes for interleukin (IL)-4, the IL-4 receptor, IL-13, and signal transducer and activator 6 (STAT6) may contribute to susceptibility of AD. To date, no cytokine gene polymorphism study has been conducted on Chinese patients with AD. AIMS: To determine whether genetic polymorphisms of the cytokine genes might influence the development of AD. METHODS: DNA samples were obtained from 94 patients and 186 control subjects. Using direct sequencing and microsatellite genotyping, we examined 22 polymorphisms in eight cytokine genes including the genes for IL-4, -10, -12B and -13, the IL-4 receptor, tumour necrosis factor (TNF)-alpha, STAT6, and interferon (IFN)-gamma. RESULTS: No significantly different allelic and genotypic distributions of the cytokine gene polymorphisms could be found between patients and controls. Moreover, no association was observed with disease onset, gender, the presence of elevated serum total IgE level or blood eosinophilia. CONCLUSION: Our study suggests that the analysed genetic polymorphisms of cytokine genes do not appear to be associated with AD susceptibility in our Chinese population.     

山东地区汉族寻常型银屑病与HLA-DRB1、DQB1等位基因的相关性研究

目的：探讨HLA-DRB1、DQB1位点基因与山东地区汉族寻常型银屑病的相关性。方法：用序列特异性引物-聚合酶链反应（PCR-SSP）方法,对98例山东汉族寻常型银屑病患者进行了HLA-DRB1、DQB1等位基因的分型,并分析了上述基因在各组中的分布。结果：寻常型银屑病患者组HLA-DRB1＊07、DQB1＊0201等位基因频率较正常对照组显著增高;I型寻常型银屑病HLA-DRB1＊07、DQB1＊0201等位基因频率较正常对照组显著增高;II型寻常型银屑病HLA-DRB1＊10基因频率较正常对照组显著增高。结论：HLA-DRB1＊07,HLA-DQB1＊0201和HLA-DRB1＊10可能是山东地区汉族寻常型银屑病的易感相关基因。     

HLA—DQB1基因与汉族天疱疮的相关性研究

目的：探讨HLA－DQB1基因在天疱疮易感性中的作用。方法：用序列特异性引物－聚合物链反应（PCR－SSP）方法，对59例寻常型（PV）患者、37例红斑型天疱疮（PE）患者及53例正常对照者进行了HLA－DQB1等位基因的分型，并分析了DQB1基因在两组中的分布。结果与结论：与正常对照组比较，PV与PE患者组中HLA－DQB1*0302、DQB1*0503基因频率明显增高。本研究结果提示，HLA－DQB1*0302、DQB1*0503基因是我国汉族天疱疹易感性的标志。     

A novel frameshift mutation of the EDA1 gene in a Chinese Han family with X-linked hypohidrotic ectodermal dysplasia

Hypohidrotic ectodermal dysplasia (HED) is a rare skin disease characterized by hypotrichosis, hypodontia and hypohidrosis. HED can be autosomal dominant, autosomal recessive or X-linked. However, X-linked HED (XLHED; OMIM 305100) is the most common form. Mutations within the EDA1 gene, which encodes ectodysplasin-A, are responsible for XLHED. In this study, we investigated the EDA1 gene in a Chinese Han family with XLHED, and found a novel 1-bp deletion mutation (c.952delG) in exon 9 of the EDA1 gene, which results in a frameshift and premature termination codon. This result suggests that the c.952delG mutation of the EDA1 gene is likely to be the disease-causing mutation for XLHED in this family. Our study adds new data to the worldwide knowledge of the molecular basis of XLHED.     

中国汉族人群白癜风6q27区域易感基因精细定位研究

目的:对中国汉族人群白癜风6q27易感区域进行精细定位研究,以期发现白癜风易感基因。方法:收集2942例白癜风患者和2850名正常对照标本,对6q27易感区域内的24个标签SNP位点进行基因分型。采用Plink 1.07和SPSS19.0软件进行统计分析,同时进行条件回归分析和连锁不平衡分析。结果:(1)SNP位点rs2236313、rs9457258、rs720325、rs968334、rs3093025、rs55802221、rs1012656、rs6930998和rs1331299的等位基因频率在病例组和对照组之间具有显著差异,但是通过条件回归分析结果提示没有新的独立信号存在;(2)连锁不平衡分析结果显示rs2236313、rs9457258、rs720325、rs968334和rs30930255位点间具有中度连锁关系(D'0.7,r20.4)。结论:本文证实既往报道的SNP是标签SNP,根据基因型填补以后的注释结果认为白癜风6q27区域的关联基因为RNASET2基因。     

ADAM33基因多态性与东北汉族银屑病的相关性

目的:确定解整合素金属蛋白酶(ADAM33)基因与东北地区汉族人群银屑病的相关性。方法:利用多重SNaPSHOT方法检测东北汉族400例银屑病患者和398名正常对照的ADAM33基因中rs2787094、rs512625、rs597980位点的基因分型。比较患者和对照组间、不同临床表型组间的基因型、等位基因和单体型频率分布的差异性。结果:ADAM33基因rs2787094CC、CG基因型和2个单体型(H3和H5)可能为银屑病的危险因素(P0.05),rs512625AA基因型和3个单体型(H1、H4和H7)可能是银屑病的保护因素(P0.05)。rs597980的基因型和等位基因在病例和对照组间无差异(P0.05)。rs2787094CC基因型和C等位基因可能与晚期发病和/或无家族史的患者具有相关性,与病情严重程度和性别无关。结论:ADAM33基因的多态位点与东北地区汉族人群银屑病具有相关性。     

The genetic epidemiology of psoriasis vulgaris in Chinese Han

BACKGROUND: The aim of this study was to explore the effects of genetic factors on the onset of psoriasis vulgaris and to develop a possible genetic model of psoriasis in Chinese Han. METHODS: Data for 1043 patients with psoriasis vulgaris were obtained by questionnaire. Complex segregation analysis and heritability were performed using Penrose's method, Falconer's method, and the EPI INFO 6.0 and SAGE-REGTL programs. RESULTS: (1) For male and female patients, the peak ages of initial onset were 30-39 and 10-19 years, respectively, with the mean age of initial onset being 27.69 +/- 12.32 years in males and 23.26 +/- 12.56 years in females. (2) Of 1043 patients with psoriasis, 326 (31.26%) were reported to have a family history of psoriasis. The onset for males with a family history of psoriasis was earlier than that for those without a family history (P < 0.01). The morbidities of first-degree relatives were 7.67% in patients with type I psoriasis and 5.27% in patients with type II (P < 0.01), and those of second-degree relatives were 1.04% in type I and 0.24% in type II (P < 0.01). (3) The onset of psoriasis was earlier in females than in males in type I psoriasis (P < 0.01), but this was not the case in type II (P > 0.05). (4) The prevalence of psoriasis in first- and second-degree relatives of the proband with psoriasis was 7.24 and 0.95%, respectively; higher than that in the general population (0.146%). (5) The heritability of psoriasis in first- and second-degree relatives was 67.04 and 46.59%, respectively. The Mendelian, no-major-gene and environment model was rejected by complex segregation analysis. CONCLUSION: Psoriasis vulgaris follows a pattern of polygenetic or multifactorial inheritance rather than single-gene inheritance.     

HLA-DM基因多态性与SLE疾病活动性及肾损害相关性分析

SLE是一种自身免疫性疾病.HLA-DM基因属于抗原加工提呈相关基因,定位于HLAⅡ类基因区域,分DMA和DMB两个位点,均由其第三外显子决定其多态性,其多态性位点较经典的HLAⅡ类基因相对较少.本研究旨在探讨HLA-DM基因多态性与SLE患者自身抗体、活动性及肾损害等的相关性.     

SLE患者外周血单一核细胞CD43基因的表达

目的探讨系统性红斑狼疮(SLE)免疫功能异常与CD43分子基因的关系。方法采用反向聚合酶链反应(RT-PCR)技术,对SLE患者外周血单一核细胞(PBMC)CD43基因的表达进行检测。结果SLE患者与正常人PBMC均检测到CD43基因的表达,且前者的表达水平为0.8662±0.3992,高于后者的0.3451±0.3310,有非常显著性差异(t=7.109,P<0.01)。结论活动期SLE患者PBMC的CD43基因表达水平显著升高,导致淋巴细胞免疫功能异常。     

Rs4948496 within ARID5B gene is associated with clinical features of systemic lupus erythematosus in the Chinese Han population

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.