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。     

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.     

HLA-DQA1*0302、DQB1*0303与新疆维吾尔族白癜风的相关性研究

目的 探讨HLA-DQA1、DQB1等位基因与新疆维吾尔族白癜风相关性。方法 聚合酶链反应-序列特异性引物（PCR-SSP）检测300例维吾尔族白癜风患者HLA-DQA1*0302、DQB1*0303等位基因。结果 与300例维吾尔族正常人对照组相比,①白癜风患者DQA1*0302（20.5%比13.83%）、DQB1*0303（30.17%比13.33%）等位基因频率显著增高（P ＜ 0.01）;②HLA-DQA1*0302、DQB1*0303等位基因频率在成人型（发病年龄 ＞ 12岁）及儿童型（发病年龄≤12岁）的白癜风患者中均增高（P ＜ 0.01）;③HLA-DQB1*0303等位基因频率在有、无家族史的白癜风患者中均增高（P ＜ 0.01）,HLA -DQA1*0302等位基因频率在无家族史病例中显著增高（P ＜ 0.01）;④白癜风组儿童型和成人型两组间比较及有、无家族史两组间比较,DQA1*0302、DQB1*0303等位基因频率差异无统计学意义（P > 0.05）。 结论 HLA-DQA1*0302、DQB1*0303等位基因可能与新疆维吾尔族白癜风相关,儿童型和成人型及有、无家族史的白癜风在其遗传背景上可能存在异质性。     

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.     

Haplotype associations of the MHC with psoriasis vulgaris in Chinese Hans

Summary Haplotype associations of the major histocompatibility complex (MHC) with psoriasis vulgaris (PV) have been demonstrated in different racial or ethnic populations. The objective of this study was to demonstrate the different haplotype associations of the MHC in Chinese patients with psoriasis according to the type of onset and their sex. One hundred and thirty-eight patients with PV and 149 normal control subjects without psoriasis were typed for HLA-A, -B, -C, -DQA1, -DQB1 and -DRB1 by using the PCR with sequence-specific primers. The results showed: (i) HLA-A*26 (26.1% vs. 12.1%, Pc < 1 x 10(-5)), -B*27 (17.03% vs. 1.01%, Pc < 1 x 10(-7)), -Cw*0602 (15.58% vs. 5.03%, Pc < 1 x 10(-2)), -DQA1*0104 (19.93% vs. 9.40%, Pc < 1 x 10(-3)), -DQA1*0201 (22.40% vs. 10.74%, Pc < 1 x 10(-3)), -DQB1*0303 (18.12% vs. 9.73%, Pc < 1 x 10(-7)), and -DRB1*0701/02 (26.09% vs. 9.73%, Pc < 1 x 10(-7)) were significantly increased in PV patients, while HLA-B*57, -DQB1*0201 were slightly increased in PV patients. HLA-Cw*0304 (5.07% vs. 14.43%, Pc < 1 x 10(-3)), -DQA1*0501 (5.79% vs. 14.09%, Pc < 0.05) were found to be negatively associated with PV, but HLA-A*2 (2.54% vs. 6.38%, Pc < 0.5) was decreased in PV patients without statistical significance. (ii) HLA-A*26-B*27 [P < 0.0001, odds ratio (OR) = 48.38], -A*26-Cw*0602 (P < 0.0001, OR = 11.84), -B*27-Cw*0602 (P < 0.0001, OR = undefined), -DRB1*0701/02-B*27 (P < 0.0001, OR = 22.62), -DRB1*0701/02-DQA1*0104 (P < 0.0002, OR = 3.59), -DRB1*0701/02-DQB1*0303 (P < 0.0001, OR = 5.63), -DQA1*0201-DQB1*0303 (P < 0.0002, OR = 7.77), -A*26-B*27-Cw*0602 (P < 0.0004, OR = undefined), -A*26-DRB1*0701/02-DQA1*0201-DQB1*0303 (P < 0.01, OR = undefined) were identified as risk haplotypes for patients with PV in China. (iii) HLA-A*26 -B*27 (P < 0.0001, OR = 58.47), -DQA1*0201-DQB1*0303 (P < 0.0001, OR = 8.62), -DRB1*0701/02 -DQA1*0104 (P < 0.0002, OR = 4.13), -DRB1*0701/02-DQB1*0303 (P < 0.0001, OR = 6.68) and -A*26-DRB1*0701-DQA1*0201 -DQB1*0303 (P < 0.006, OR = undefined) were only significantly associated with type I psoriasis compared with controls, while others showed no differences in either type I or type II psoriasis. (iv) These associated haplotypes with PV were not different by sex, except that the frequency of DRB1*0701/02-DQB1*0303 (P < 0.0001, OR = 10.14) was higher in male patients with psoriasis. To summarize, this study demonstrated a differential association of HLA and identified some special risk haplotypes in Chinese patients with PV compared with other ethnic or racial populations.     

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。     

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.     

A new extended haplotype Cw*0602-B57-DRB1*0701-DQA1*0201-DQB1*0201 associated with psoriasis in the Croatian population

In this study, we have analysed the distribution of HLA class II alleles and the extended haplotype HLA-Cw-B-DRB1-DQA1-DQB1 in Croatian patients with type I and type II psoriasis by hybridization with specific oligonucleotide probes. Type I psoriasis showed a significant association with the DRB1*0701 [P < 0.00001; relative risk (RR) = 5.83], DQA1*0201 (P < 0.00001; RR = 6.12), DQB1*0201 (P = 0.0006; RR = 3.29) and DQB1*0303 alleles (P = 0.0008; RR = 7.51). A negative correlation with type I disease was observed for the DQA1*0102 allele (P = 0.002; RR = 0.26). Type II psoriasis did not show any association with any class II alleles. The extended haplotype HLA-Cw*0602-B57-DRB1*0701-DQA1*0201-DQB1*0201 was present at a significantly higher frequency in type I patients (P < 0.00001; RR = 7.72). However, this haplotype was not detected at all in patients with type II psoriasis. In conclusion, the extended haplotype HLA-Cw*0602-B57-DRB1*0701-DQA1*0201-DQB1*0201 is a risk haplotype for type I disease in the Croatian population. This particular haplotype has not been reported previously in association with psoriasis in any other ethnic groups.     

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。     

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。     

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。     

Association of HLA haplotype with alopecia areata in Chinese Hans

BACKGROUND: Some studies have shown discrepancies in human leucocyte antigen (HLA) associated with alopecia areata (AA) between different ethnic populations. OBJECTIVE: To investigate whether HLA-I, -DQA1 and -DQB1 alleles and the HLA haplotype are associated with AA, and the correlation between the HLA haplotype profile, age of onset and severity of AA in Chinese Hans. METHODS: The polymerase chain reaction-sequence specific primer (PCR-SSP) method was used to analyse the frequencies of HLA class I, -DQA1 and -DQB1 alleles in 192 patients with AA and 252 controls in Chinese Hans. The linkage disequilibrium was calculated using the 2 x 2 table. RESULTS: The 24 two-locus haplotypes [including A*02-B*18, A*02-B*27, A*02-B*52, A*02-Cw*0704, A*02-DQA1*0104, A*02-DQB1*0604, A*02-DQB1*0606, B*18-Cw*0704, B*18-DQA1*0104, B*18-DQA1*0302, B*18-DQB1*0606, B*27-Cw*0704, B*27-DQA1*0104, B*27-DQA1*0302, B*52-Cw*0704, B*52-DQA1*0104, B*52-DQA1*0302, B52-DQB1*0606, Cw*0704-DQA1*0104, Cw*0704-DQA1*0302, Cw*0704-DQB1*0606, DQA1*0104-DQB1*0604, DQA1*0104-DQB1*0606, DQA1*0302-DQB1*0606 (P<0.05)] were associated with AA, while eight extended haplotypes (A*02-B*18-DQA1*0104, A*02-B*27-DQA1*0104, A*02-B*52-DQA1*0104, A*02-B*52-DQA1*0302, A*02-B*52-DQB1*0606, B*52-Cw*0704-DQA1*0104, B*52-Cw*0704-DQA1*0302, A*02-B*52-DQA1*0302-DQB1*0606) were found to be related to AA in Chinese Hans. Through stratified analysis, we found that the extended haplotype B*52-Cw*0704-DQA1*0302 was related to early onset of AA, and no haplotype was only associated with severe AA. CONCLUSION: This is the first detailed report to elucidate HLA haplotypes associated with AA and that demonstrates the significant HLA haplotypes in Chinese Hans AA. The haplotype B*52-Cw*0704-DQA1*0302 was identified to be related to early onset of AA. Our results provide some information for future research on predisposing genes in HLA regions in Chinese Hans.     

广西壮族系统性红斑狼疮与HLA-DQA1基因相关性研究

目的　为了探讨广西壮族系统性红斑狼疮 (SLE)与HLA DQA1相关性。方法　用聚合酶链反应 序列特异性引物 (PCR SSP)技术 ,对 5 1例SLE壮族患者和 70例壮族健康人的HLA DQA1基因进行研究。结果　两组均未发现HLA DQA1 0 2 0 1, 0 3 0 2及壮族健康人的DQA1 0 60 1等位基因。SLE组DQA1 0 10 1频率显著高于对照组 (RR =3 .2 72 7,χ2 =7.3 2 1,P =0 .0 0 9) ,而DQA1 0 10 4, 0 3 0 1频率均显著低于对照组 (RR =0 .45 61,χ2 =3 .885 ,P =0 .0 49和RR =0 .43 17,χ2 =4.843 ,P =0 .0 2 8)。结论　DQA1 0 10 1可能是广西壮族SLE易感基因 ,DQA1 0 10 4和DQA1 0 3 0 1可能为保护基因。     

Co-existence of pemphigus vulgaris and Hashimoto's thyroiditis

We report a case of pemphigus vulgaris (PV) associated with Hashimoto's thyroiditis. Direct immunofluorescent studies revealed intercellular deposits of IgG and C3. Both anti-desmoglein (Dsg) 1 and Dsg 3 antibodies were positive in the patient's serum by enzyme-linked immunosorbent assays. HLA genotyping was performed from the patient's peripheral blood leukocytes by polymerase chain reaction. HLA-A*02011, -A*2402101, -DQA1*0104, -DQB1*05031 and -DRB1*1405 alleles, which confer strong susceptibility to Japanese patients with PV, were found. HLA-DQA1*0303 which is strongly associated with Hashimoto's thyroiditis in the Japanese population was also determined.     

Comparisons of clinical features of HLA‐DRB1*07 positive and negative vitiligo patients in Chinese Han population

Background Human leucocyte antigen (HLA)‐II alleles have been found to be associated with vitiligo in different populations, and several studies also suggested that HLA class II alleles/haplotypes were associated with a different type vitiligo. Of HLA class II alleles, DRB1*07 has consistently shown a positive association with vitiligo in Chinese Han population. Objective To further explore the relationship between DRB1*07 and vitiligo and to evaluate the DRB1*07 effect on the clinical features of vitiligo in Chinese Han population. Methods This study investigated DRB1*07 allele distribution in 1178 unrelated Chinese vitiligo patients and 1743 healthy controls using polymerase chain reaction/sequence specific primer method and observed clinical differences between DRB1*07 positive and DRB1*07 negative patients. Results The analysis of the 1178 cases and 1743 controls revealed a highly association between DRB1*07 allele and vitiligo [odds ratio (OR) = 1.97, P = 2.13 × 10^?17]. DRB1*07 positive patients had early disease onset (OR = 1.49, P = 0.001), higher frequency of family history (OR = 1.44, P = 0.006) compared with DRB1*07 negative patients. Conclusions The DRB1*07 showed significant association with vitiligo in the study population. This study confirmed that DRB1*07 positive patients had some obvious clinical differences from DRB1*07 negative patients in the Chinese Han population.     

Linkage and association of HLA class II genes with vitiligo in a Dutch population

BACKGROUND: Serological typing of HLA has shown discrepancies in HLA associations with vitiligo in different ethnic populations. OBJECTIVES: To perform genotyping of HLA class II genes on a Dutch vitiligo population in order clearly to identify susceptible and protective HLA alleles in vitiligo. METHODS: HLA typing was carried out by amplifying genomic DNA by polymerase chain reaction (PCR) followed by dot-blot hybridization with sequence-specific oligonucleotides (SSO). Fifty Dutch vitiligo probands, and their parents (150 individuals) and 204 healthy controls were studied. RESULTS: Family-based case-control association studies and linkage disequilibrium analysis showed the linkage and association of DRB4*0101 allele with vitiligo (P(c) = 0.0016, relative risk = 2.21). The family-based association study also provided evidence for linkage and association of DQB1*0303 allele with vitiligo (chi(2) = 7.36, P = 0.006). We measured the clinical relevance of the test by calculating the prevalence corrected positive predictive values (PcPPV). The PcPPV of disease for the DRB4*0101 allele was 0.017 and for the DRB4*0101/0101 genotype was 0.0358. In other words, a DRB4*0101/0101 genotype carries a 3.58% risk of developing vitiligo. CONCLUSIONS: Both DRB4*0101 and DQB1*0303 alleles provide significant susceptibility for vitiligo.     

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 class II polymorphisms in Spanish melanoma patients: homozygosity for HLA-DQA1 locus can be a potential melanoma risk factor

BACKGROUND: The association of melanoma with HLA class II loci is under extensive debate. Different investigators have found discrepant results due to, at least in part, sample size, patient series heterogeneity, choice of control population and differences in the techniques employed for the detection of HLA antigens and alleles. OBJECTIVES: This study was designed to analyse the possible association of melanoma with HLA class II loci with regard to different clinic pathological factors and to investigate other risk factors for melanoma susceptibility, such as HLA homozygosity. PATIENTS AND METHODS: HLA-DRB1, -DQA1 and -DQB1 genotyping was performed for 117 eastern Spanish patients presenting with primary melanoma. RESULTS: Although there were no significant alterations in the phenotypic frequencies of HLA-DQA1, -DQB1 or -DRB1 alleles in any subgroup of patients when compared with controls, patients exhibited a statistically significant increase in HLA-DQA1 homozygosity rate. This DQA1 homozygosity-specific association was particularly dependent on some features in melanoma patients such as light hair colour, skin type I or II, early age at diagnosis, absence of atypical naevi, or abscence of atypical naevus syndrome phenotype (aetiological fractions about 10-20%). Analysis of homozygosity for single DQA1 alleles showed an increased homozygosity rate for DQA1*0505 and DQA1*0301 in comparison with controls. These DQA1 alleles are in strong linkage disequilibrium with DQB1*0301 in white populations, and DQB1*0301 homozygous individuals were significantly increased in red in or fair-haired patients (relative risk 5.65). CONCLUSIONS: Our results indicate that the contribution of HLA class II alleles to primary melanoma incidence is not significant in the Spanish population. However, homozygosity for the HLA-DQA1 locus (and, perhaps, for the HLA-DQB1*0301 allele) might be considered a potential risk factor for developing melanoma depending on the person's genetic background and, perhaps, on certain environmental conditions.     

Human leukocyte antigen class II alleles and natural history of HPV 2/27/57-induced common warts

Epidemiological studies have demonstrated an association between HLA-DQB1*03 alleles and the risk of cervical cancer induced by human papillomavirus (HPV). As persistence of HPV infection is required for developing cervical cancer, we wanted to elucidate the role of HLA-class II allele polymorphisms in the persistence of common warts induced by HPV 2, HPV 27 or HPV 57. Therefore, we determined the distribution of HLA-DQA1, -DQB1, and -DRB1 alleles in 71 patients presenting with HPV 2/27/57-induced common warts which had persisted for at least 18 months as well as in 92 individuals who had never suffered from common warts or whose warts had healed in less than 18 months. Among patients with long-lasting warts, the carriership frequencies and allele frequencies of DQA1*0301, DQB1*0301, DRB1*07 and DRB1*09 were higher, and the allele frequencies of DQA1*0501, DQB1*0603, DRB1*01 and DRB1*03 were lower. Statistically significant differences (Bonferroni adjusted Fishers exact test) were found for carriership frequency of DQA1*0301 (46.5 vs 21.7%, P=0.013) and for carriership frequency (18.3 vs 1.1%, P=0.0015) and allele frequency (12 vs 0.5%, P=0.000013) of DQB1*0301. A greater proportion of patients with long-lasting warts than of subjects without persistent warts were homozygous at the DQA1 (14.1 vs 6.5%) and DQB1 (16.9 vs 8.6%) gene loci. These results suggest that the natural history of cutaneous HPV 2/27/57-induced common warts may be modulated by allele polymorphisms at the HLA-DQA1 and HLA-DQB1 gene loci.