HLA-DQA1和HLA-DQB1等位基因与皖籍汉族人群白癜风的相关性

目的 探讨HLA-DQA1、-DQB1等位基因与皖籍汉族人群白癜风的相关性。方法 采用聚合酶链反应-序列特异性引物(PCR-SSP)方法,检测白癜风患者的HLA-DQA1、-DQB1等位基因。结果 与正常人对照组比较,①白癜风患者HLA-DQA1*0302、-DQB1*0303、-DQB1*0503等位基因频率显著升高,HLA-DQA1*0501等位基因频率显著降低;②HLA-DQA1*0302、-DQA1*0601、-DQB1*0303、-DQB1*0503等位基因频率在儿童型白癜风患者中显著升高,HLA-DQA1*0501等位基因频率显著下降;而成人型白癜风患者HLA-DQB10303等位基因频率显著升高;③HLA-DQA1*0302、-DQB1*0303、-DQB1*0503等位基因频率在泛发型白癜风患者中显著升高,HLA-DQA1*0501等位基因频率显著下降;而局限型白癜风患者HLA-DQB1*0303等位基因显著升高。结论 HLA-DQA1*0302、-DQA1*0601、-DQB1*0303、-DQB1*0503、-DQA1*0501等位基因可能与白癜风相关,不同类型白癜风在其遗传背景上可能存在异质性。     

新疆维吾尔族系统性红斑狼疮与HLA-DQA1等位基因相关性研究

目的 探讨新疆维吾尔族系统性红斑狼疮（SLE）与HLA-DQA1的相关性。 方法 用聚合酶链反应-序列特异性引物技术,对56例SLE维吾尔族患者和54例维吾尔族健康对照者的HLA-DQA1基因进行研究。 结果 SLE组DQA1* 0302频率显著高于对照组（χ2 = 10.032,P = 0.004）,而SLE组DQA1* 0101频率显著低于对照组（χ2 = 5.676,P = 0.017）。 结论 HLA-DQA1* 0302可能是新疆维吾尔族SLE的易感基因,HLA-DQA1* 0101可能是新疆维吾尔族SLE的保护基因。     

HLA-DQA1及DQB1等位基因与寻常型银屑病遗传易感性研究

目的 探讨HLA-DQA1和DQB1等位基因与汉族人寻常型银屑病遗传易感性。方法 利用聚合酶链反应-序列特异引物(PCR-SSP)法,对189例银屑病患者和273例健康人的HLA-DQA1和DQB1等位基因进行检测。结果 ①HLA-DQA1*0104和DQA1*0201与汉族人银屑病呈正相关性(Pc<0.05);DQA1*0501与汉族人银屑病呈负相关(Pc<0.001).②HLA-DQA1*0104、DQA1*0201和DQA1*0501等位基因与Ⅰ型银屑病发病有关。③HLA-DQA1*0104和DQA1*0201等位基因在有家族史和无家族史患者中的频率显着性增高。HLA-DQA1*0501仅在无家族史银屑病患者中显着性下降。结论 ①HLA-DQA1*0104和DQA1*0201可能是银屑病的易感基因或与易感基因相连锁;DQA1*0501等位基因可能具有阻止汉族人发生银屑病的作用。②有家族史和无家族史银屑病患者在其遗传背景上可能存在差异。     

色素障碍性皮肤病

20053290HLA-DQA1和HLA-DQB1等位基因与皖籍汉族人群白癜风的相关性/汪继之(安徽省皮防所),杨森,王红艳…∥中华皮肤科杂志.-2005,38(6).-357~359采用聚合酶链反应-序列特异性引物(PCR-SSP)方法检测187例皖籍汉族白癜风患者及273例正常对照的HLA-DQA1,-DQB1等位基因。结果:HLA-DQA1*0302,-DQB1*0303,-DQBP*0503等位基因频率在白癜风患者中显著升高;在儿童型患者中尚有HLA-DQA1*0601等位基因频率显著升高。白癜风组HLA-DQA1*0501等位基因频率显著降低。提示:HLA-DQA1*0302,-DQA1*0601,-DQB1*0303,-DQB1*0503,-DQA1*0501等位基因可能与白癜风相关,不同类型白癜风在其遗传背景上可能存在异质性。表1参6(穆欣)20053291白癜风患者血清可溶性细胞间黏附分子-1的检测/周渭珩(杭州市三院),洪为松,许爱娥∥中国中西医结合皮肤性病学杂志.-2005,4(1).-20~21采用酶联免疫吸附试验法检测40例白癜风患者血清中SICAM-1水平。结果:两组比较,白癜风患者...     

华东地区汉族某些HLA-Ⅱ类等位基因与白癜风的相关性研究

目的 探讨华东地区汉族HLA-Ⅱ类基因与白癜风的相关性。方法采用聚合酶链反应-序列特异性寡核苷酸探针(PCR-SSOP)方法检测华东地区汉族白癜风患者HIA-DRB1、DQA1和DQB1位点的等位基因。结果与正常人对照组比较，患者DQA1^*03基因频率显著增高(Pc=0.008)．而DQA1^*05基因频率显著降低(Pc=0．016)。结论在华东地区汉族人群中，HLA-DQA1^*03、DQA1^*05可能与白癜风相关。     

HLA-DRB1，DQA1，DQB1基因单倍型与华东地区汉族人群白癜风的相关性

目的 探讨HLA-DRB1、DQA1、DQB1基因单倍型与华东地区汉族人群白癜风的相关性。方法 采用聚合酶链反应-序列特异性寡核苷酸探针(PCR-SSOP)方法检测华东地区汉族白癜风患者HLA-DRB1、DQA1、DQB1位点的等位基因,运用遗传学群体与家系资料计算机分析系统3.0筛选并分析单倍型。结果 与正常人对照组比较,HLA-DRB1^*09-DQA1^*03-DQB1^*0303单倍型频率显著增高(Pc=0.02,OR=2.542)。结论 在华东地区汉族人群中,HLA-DRB1^*09-DQA1^*03-DQB1^*0303单倍型可能是白癜风的易感单倍型。     

HLA-DQ/DP等位基因与粤籍汉族斑秃及中医证型的相关性研究

目的探讨HLA-DQ/DP等位基因与粤籍汉族斑秃及中医证型的相关性。方法采用聚合酶链反应-序列特异性引物(PCR-SSP)分型技术,对51例粤籍汉族斑秃患者的HLA-DQ/DP等位基因进行检测,并与110名粤籍汉族健康人群进行对照。结果 HLA-DQA1*0201、DQA1*0601、DQB1*0501、DQB1*0602、DPA1*0103基因频率斑秃组显著高于对照组,有极显著性差异(P0.05或P0.01);DQB1*0301、DPA1*0201基因频率斑秃组显著低于对照组(P0.05);DQA1*0301气血两虚证基因频率显著高于其他证型(P0.05)。结论 HLA-DQA1*0201、DQA1*0601、DQB1*0501、DQB1*0602、DPA1*0103可能是斑秃的易感基因,DQB1*0301、DPA1*0201可能是斑秃的保护基因,DQB1*0301主要与重型组有关,DQB1*0501、DPA1*0103则与轻型组相关,DQA1*0301可能是气血两虚证的易感基础。     

沙眼衣原体泌尿生殖道慢性持续感染患者人白细胞抗原DQA1基因多态性研究

目的 探讨人白细胞抗原DQA1 （HLA-DQA1）等位基因多态性与沙眼衣原体泌尿生殖道慢性持续性感染的相关性。方法 PCR和基因测序方法,对80例沙眼衣原体泌尿生殖道慢性持续感染患者、80例沙眼衣原体泌尿生殖道一般感染患者及80例正常人的HLA-DQA1等位基因进行检测。结果 HLA-DQA1*0102和DQA1*0501在沙眼衣原体泌尿生殖道慢性持续感染患者中的基因频率分别为22.5%、5.0%,在一般感染组的基因频率分别为5%、20%,而在正常人对照组的基因频率分别为2.5%、17.5%。沙眼衣原体泌尿生殖道慢性持续感染患者的HLA-DQA1*0102等位基因较一般感染组及正常人对照组增高,差异有统计学意义（χ2 = 14.6286,P < 0.01）;而HLA-DQA1*0501 等位基因在持续感染患者中下降,差异有统计学意义（χ2 = 6.2598,P < 0.05）。结论 HLA-DQA1*0102可能是沙眼衣原体泌尿生殖道慢性持续感染的易感基因或与易感基因相连锁。HLA-DQA1*0501等位基因可能具有阻止发生沙眼衣原体泌尿生殖道慢性持续感染的作用。     

壮族人寻常性银屑病与HLA-DQA1和DQB1基因的相关性研究

[摘要]目的：探讨广西壮族人寻常型银屑病的发病与HLA-DQA1和DQB1基因的关联。方法：应用聚合酶链式反应-序列特异引物（PCR-SSP）法对58例壮族寻常型银屑病患者和102例健康壮族人的HLA-DQA1和DQB1座位进行基因分型，比较两组相应等位基因的频率。结果：HLA-DQB1*0303与壮族银屑病患者呈显著的正相关（OR=4.540，p=0.004），而HLA-DQA1*0501和HLA-DQB1*0301与壮族银屑病患者呈显著的负相关（OR=0.189，p=0.000；OR=0.367，p=0.018）。结论：以上3个HLA-DQ等位基因与广西壮族人寻常型银屑病的关系密切，其中HLA-DQB1*0303可能为该人群银屑病的易感因子，而HLA-DQA1*0501和HLA-DQB1*0301则可能对银屑病有抵抗作用。     

色素障碍性皮肤病

20120239 白癜风患者维生素D受体ApaI基因多态性及免疫异常的研究/孙越(上海交大第一医院),韩菁,吴瑞勤…//中国中西医结合皮肤性病学杂志.-2011,10(3).-148 ～151采用聚合酶链反应和限制性片段长度多态性方法,对46例白癜风患者和50例健康人的VDR Apa'I基因多态性进行分析,以及各基因型与外周血免疫球蛋白IgA,IgM和IgG,补体C3,C4以及T细胞亚群CD3+,CD4+和CD8+之间的关系.结果:①VDR -ApaI位点的aa基因型在白癜风患者中出现的频率高于正常对照组(P＜0.05).②Aa,aa基因型组白癜风患者血清免疫蛋白IgA水平显著低于正常对照组(P＜0.05与P＜0.01),aa基因型患者补体C3水平显著低于正常对照组(P＜0.01).③aa基因型组白癜风患者CD3+T淋巴细胞百分比明显低于正常对照组(P＜0.05).提示携带aa基因型的白癜风患者存在体液与细胞免疫的异常.维生素D受体以及免疫异常与白癜风发病有一定的关系.图1表4参15(马宽玉)20120240 HLA-DQA1*0302、DQB1*0303与新疆维吾尔族白癜风的相关性研究/辛宁(新疆石河子大学医学院),唐小辉,陈军…//中华皮肤科杂志.-2011,44(9).     

Association of HLA-DQA1 and DQB1 genes with vitiligo in Chinese Hans

BACKGROUND: Vitiligo is an acquired depigmentary disorder of the skin and hair which results from selective destruction of melanocytes. Serological typing and genotyping of human leukocyte antigen (HLA) have shown discrepancies in HLA associations with vitiligo in different ethnic populations. METHODS: Polymerase chain reaction sequence-specific primer (PCR-SSP) method was used to analyze the distribution of HLA-DQA(1) and -DQB(1) alleles among 187 patients with vitiligo and 273 healthy controls through Epi Info version 6 package (Centers for Disease Control and Prevention, Atlanta, GA, USA). RESULTS: The frequencies of HLA-DQA1*0302 (OR = 1.98, P(c) < 0.01), -DQB1*0303 (OR = 3.14, P(c) < 0.001), and -DQB1*0503 (OR = 3.36, P(c) < 0.05) alleles were significantly increased in patients with vitiligo compared with controls, and HLA-DQA(1)*0501 (OR = 0.40, P(c) < 0.01) allele frequency was highly decreased. HLA-DQA1*0302 (OR = 5.19, P(c) < 0.001), -DQA1*0601 (OR = 2.95, P(c) < 0.05), -DQB1*0303 (OR = 4.50, P(c) < 0.001), and -DQB1*0503 (OR = 6.69, P(c) < 0.001) alleles were positively associated, whereas HLA-DQA1*0501 (OR = 0.05, P(c) < 0.001) allele was negatively associated with childhood vitiligo patients, and HLA-DQB1*0303 (OR = 2.76, P(c) < 0.001) allele was positively associated with adult vitiligo patients compared with controls. The frequency of HLA-DQB1*0303 (OR = 3.72, P(c) < 0.001) allele was significantly increased in localized vitiligo patients vs. controls, whereas HLA-DQA1*0302 (OR = 2.47, P(c) < 0.01), -DQB1*0303 (OR = 2.67, P(c) < 0.01), and -DQB1*0503 (OR = 4.46, P(c) < 0.01) allele frequencies were significantly increased and -DQA1*0501 (OR = 0.27, P(c) < 0.01) allele frequency was highly decreased in generalized vitiligo patients. CONCLUSIONS: HLA-DQA1*0302, -DQA1*0601, -DQB1*0303, and -DQB1*0503 alleles could be susceptible alleles of vitiligo, while HLA-DQA1*0501 allele could be a protective allele in Chinese Hans. There may be different genetic backgrounds between vitiligo patients of childhood and adult, localized and generalized.     

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.     

Association of HLA-DQA1 and DQB1 alleles with alolpecia areata in Chinese Hans

Accumulative evidences have shown that certain HLA loci are associated with alopecia areata (AA), but with existing differences in ethnic distribution. No report has ever been published about this in Chinese Hans. To investigate whether HLA-DQA1 and DQB1 alleles are associated with AA, and the correlation of the HLA profile with age of onset, severity, duration of current attack, recurrence and family history of AA in Chinese Hans. The polymerase chain reaction–sequence-specific primer (PCR-SSP) method was used to analyze the distribution of HLA-DQA1 and DQB1 alleles in 192 patients with AA and 273 healthy controls in Chinese Hans. The significant increased frequencies of HLA-DQA1*0104 (OR=3.38, P _c<0.001), HLA-DQB1*0604 (OR=5.17, P _c=0.006) and HLA-DQA1*0606 (OR=3.73, P _c<0.001) were observed in patients compared with controls. The DQA1*0104-DQB1*0604, DQA1*0104-DQB1*0606, and DQA1*0302-DQB1*0606 were found as high-risk haplotypes in developing AA in this study. HLA-DQA1*0104 (OR=5.31, P _c < 0.001) and -DQB1*0604 (OR=5.56, P _c=0.015) were more prevalent only in AA patients with long duration than controls. The frequencies of HLA-DQB1*0604 (OR=5.42, P _c=0.009) and -DQB1*0606 (OR=4.11, P _c<0.001) were obviously increased in patients less than 50% scalp hair loss. No locus was merely associated with early onset, severe involvement, recurrence and a positive family history of AA. This study demonstrated the positive association of HLA-DQA1 and DQB1 alleles and haplotypes with AA. There may be differences in genetic background in patients with different duration.     

广西壮族、汉族系统性硬化病与HLA-DQA1、DQB1等位基因相关性研究

目的 探讨广西壮族、汉族系统性硬化病(SSC)与HLA-DQA1、-DQB1等位基因的相关性.方法 用PCR-序列特异性引物(PCR-SSP)方法,对壮、汉族Sse患者各50例和壮、汉族健康人各100例的HLA-DQA1、-DQB1基因进行研究.结果 与正常人对照组相比,壮族SSc患者组中HLA-DQA1*0401、-DQB1*0501、-DQB1*0601基因频率显著升高(分别为RR:4.06,χ2=15.41,Pc<0.01;RR=4.47,χ2=10.65,Pc<0.01和RR=3.47,χ2=10.06,Pc<0.01),汉族SSc患者组中HLA-DQA1*0401、-DQA1*0601、-DQB1*0601基因频率显著升高(分别为RR=9.33,χ2=8.37,Pc<0.05;RR=8.071,χ2=20.13,Pc<0.01和RR=3.76,χ2=10.76,Pc<0.01).壮、汉族SSc患者组中HLA-DQA1*0201基因频率均显著降低(χ2=13.58,Pc<0.01和χ2=12.21,Pc<0.01).结论 HLA-DQA1*0401、-DQB1*0601可能是广西壮族、汉族SSc患者的易感基因,HLA-DQB1*0501可能是广西壮族SSc患者的易感基因,HLA-DQA1*0601可能是广西汉族SSc患者的易感基因.

Abstract：

Objective To explore the potential associations of HLA-DQA1 and DQB1 alleles with systemic scleroderma (SSc) in Zhuang and Han nationalities in Guangxi Zhuang Autonomous Region. Methods Genomic DNA was extracted from the peripheral blood of SSc patients of Zhuang (n=50) and Han (n=50) nationality,normal controls of Zhuang (n=100) and Han (n=100) nationality in Guangxi Zhuang Autonomous Region.PCR with sequence-specific primers (PCR-SSP) was used to detect HLA-DQA1 and -DQB1 alleles in these subjects. Results There was a significant increase in the frequency of HLA-DQA1*0401, -DQBl*0501 and -DQB1*0601 alleles in the patients of Zhuang nationalty(RR=4.056,χ2=15.407,PC=0.001;RR=4.472,χ2=10.653,Pc=0.004;RR=3.473,χ2=10.06,Pc=0.008)compared with normal controls of Zhuang nationality,and in the frequency of HLA-DQA1*0401,DQA1*0601 and DQB1*0601 alhles in patients of Han nationality (RR=9.333,χ2=8.371,Pc=0.036;RR=8.071,χ2=20.130,Pc=0.000;RR=3.764,χ2=10.755,Pc=0.004)compared with normal control of Han nationality.However,the frequency of HLA-DQA1*0201 allele was statistically lower in the patients of Zhuang and Han nationality than in the controls of corresponding nafionality (χ2=13.583,Pc=0.002;χ2=12.209,Pc=0.004).Conclusions HLA-DQA1*0401 and-DQB1*0601may be susceptible genes for SSc in Zhuang and Han nationalities,HLA-DQB1*0501 for Sse in Zhuang nationality,and HLA-DQAl*060l for SSc in Han nationality in Guangxi Zhuang Autonomous Region.     

HLA-DQA1 and DQB1 alleles are associated with genetic susceptibility to psoriasis vulgaris in Chinese Han

BACKGROUND: Psoriasis vulgaris is a chronic skin disorder characterized by infiltration of inflammatory elements, keratinocyte hyperproliferation and altered differentiation. Although the pathogenesis of psoriasis is not fully understood, there is solid evidence of a susceptibility locus in the human leukocyte antigen (HLA) region. OBJECTIVES: To investigate whether HLA-DQA1 and DQB1 alleles are associated with genetic susceptibility to psoriasis vulgaris in Chinese Han. PATIENTS AND METHODS: The polymerase chain reaction-sequence-specific primer (PCR-SSP) method was used to analyse the distribution of HLA-DQA1 and DQB1 alleles in 189 patients with psoriasis and 273 healthy controls. RESULTS: The HLA-DQA1*0104 (OR = 2.33, P = 0.0001154, Pc = 2.0 x 10-3), DQA1*0201 (OR = 3.36, P < 1.0 x 10-7, Pc < 1.0 x 10-6), DQB1*0201 (OR = 1.64, P = 0.0192, Pc > 0.05) and DQB1*0303 (OR = 1.55, P = 0.0377, Pc > 0.05) alleles were more prevalent in patients with psoriasis vulgaris than in controls, and HLA-DQA1*0501 (OR = 0.30, P = 0.0000039, Pc < 4.0 x 10-5) alleles were less prevalent. The HLA-DQA1*0104 (OR = 2.42, P = 0.0001159, Pc < 2.0 x 10-3), DQA1*0201 (OR = 3.74, P < 1.0 x 10-7, Pc < 1.0 x 10-6) and DQA1*0501 (OR = 0.30, P = 0.0000374, Pc < 4.0 x 10-4) alleles were only associated with type I psoriasis. HLA-DQA1*0104 and DQA1*0201 were more prevalent in patients with or without a family history of psoriasis. However, the DQA1*0501 allele was only more prevalent in patients without a family history of psoriasis. CONCLUSION: HLA-DQA1*0104 and DQA1*0201 alleles may be psoriasis susceptibility genes or may be in close linkage with the susceptibility genes. The HLA-DQA1*0501 allele seems to have a protective effect against the development of psoriasis vulgaris in Chinese Han. There may be a difference in genetic background between psoriasis patients with and without a family history of psoriasis.     

特应性皮炎与HLA-DRB1 DQB1基因的相关性研究

目的探讨HLA-DRB1和DQB1位点基因与汉族特应性皮炎的相关性。方法用序列特异性引物-聚合酶链反应(PCR-SSP)方法,对59例特应性皮炎患者(来自27个家系)和60例正常对照者进行了HLA-DRB1和DQB1等位基因的分型,并分析了DRB1和DQB1基因在各组中的分布。结果特应性皮炎患者组DRB1*15,DR7,DQB1*0601等位基因频率较正常对照组增高(P<0.05);特应性皮炎患者组DQB1*0302频率较正常对照组降低(P<0.05)。特应性皮炎家系成员中对屋尘螨抗原皮试阳性者HLA-DR7等位基因频率较皮试阴性者均显著增高(P<0.05)。结论特应性皮炎的发病可能与DRB1*15,DR7,DQB1*0601相关;DQB1*0302对特应性皮炎的发病可能起保护作用。HLA-DR7在限定对屋尘螨抗原特异性IgE反应过程中起重要作用。