OBJECTIVEHuman leukocyte antigen (HLA) class II genes, especially HLA-DQ genes, which are highly polymorphic, have been thought to be candidate loci for the etiology of asthma, and shown to be involved in antigenic presentation. This study was conducted to investigate whether susceptibility or resistance to asthma is associated with HLA-DQA1 and DQB1 genes polymorphism.

METHODSVenous blood samples were collected from northern Chinese population with Han ethnic. (1) One hundred and twenty-five unrelated asthmatic individuals and 52 subjects from 12 asthmatic pedigrees. (2) Ninety-six healthy controls without asthma and atopy with the same ethnic. Genomic DNA was extracted using standard phenol-chloroform method. The second exon of HLA-DQA1 and DQB1 genes were amplified by sequence-specific primer-polymerase chain reaction (SSP-PCR) method. All asthmatics had their serum IgE (total and specific) antibody or skin-prick test measured, bronchial reactivity to methacholine (Mch) and bronchial reversibility by beta(2)-agonist evaluated.

RESULTSHLA-DQA1 * 0104 allele and HLA-DQB1 * 0201 allele were significantly higher in asthmatics than those in healthy controls (0.408 vs 0.177, P < 0.01; 0.568 vs 0.198, P < 0.01). Odds ratios (ORs) were 3.203 (95% CI 1.699 - 6.037), 5.328 (95% CI 2.883 - 9.849) respectively. Conversely, HLA-DQA1 * 0301 allele and HLA-DQB1 * 0301 were significantly decreased in asthmatics compared to healthy controls (0.296 vs 0.50, P < 0.01; 0.4 vs 0.563, P < 0.05); Logistic regression analysis showed that HLA-DQA1 * 0104 allele was associated independently with asthma etiology, OR [represented by Exp(B)] was 5.0942 with 95% CI 2.2520 - 21.1813; Spearman's analysis showed that HLA-DQA1 * 0104 allele and HLA-DQB1 * 0201 allele were positively associated with atopy, the correlation coefficient were 0.183 and 0.289 respectively, P < 0.01. By contrast, HLA-DQA1 * 0301 allele was negatively related to atopy, the correlation coefficient was -0.168, P < 0.05; linkage analysis did not support the view that HLA-DQA1/DQB1 genes were linked to asthma with LOD value being 0.72.

CONCLUSIONSHLA-DQA1 * 0104 allele and HLA-DQB1 * 0201 allele were implicated in susceptibility to asthma and atopy, HLA-DQA1 * 0301 allele and HLA-DQB1 * 0301 might be protective factor against asthma. Asthma and atopy are multifactorial disorders, HLA-DQA1 and DQB1 genes are involved in the regulation of immune specific response to common allergen.

Adult ; Asian Continental Ancestry Group ; genetics ; Asthma ; genetics ; China ; Disease Susceptibility ; Female ; HLA-DQ Antigens ; genetics ; HLA-DQ alpha-Chains ; HLA-DQ beta-Chains ; Humans ; Male ; Polymorphism, Genetic

OBJECTIVETo investigate the association between the polymorphism of human leucocyte antigen (HLA)-DRB1, -DQA1 and -DQB1 alleles and viral hepatitis B.

METHODSHLA-DRB1, -DQA1 and -DQB1 alleles in 52 patients with chronic hepatitis B, 30 patients with acute hepatitis B and 106 normal control subjects were analysed, using the polymerase chain reaction/sequence specific primer (PCR/SSP) technique.

RESULTSThe allele frequencies of HLA-DRB1 * 0301, -DQA1 * 0501 and -DQB1 * 0301 in the chronic hepatitis B group (17.31%, 25.96%, 35.58%) were markedly higher than that in the normal control group (5.67%, 13.36%, 18.87%), with statistical significance (chi(2)(1) = 12.3068, P(c1) = 0.0074; chi(2)(2) = 9.2002, P(c2) = 0.0157; chi(2)(3) = 15.5938, P(c3) = 0.0075). The allele frequencies of HLA-DRB1 * 1101/1104 and -DQA1 * 0301 in the chronic hepatitis B group (0.96%, 14.42%) were markedly lower than that in the acute hepatitis B group (13.33%, 30%), with significant correlation between them (chi(2)(1) = 11.9206, P(c1) = 0.0145; chi(2)(2) = 8.7396, P(c2) = 0.0167).

CONCLUSIONHLA-DRB1 * 0301, -DQA1 * 0501 and -DQB1 * 0301 were closely associated with the susceptibility to chronic hepatitis B, while HLA-DRB1 * 1101/1104 and -DQA1 * 0301 closely associated with the resistance to chronic hepatitis B. These findings suggested that host HLA class II gene was an important factor determining the outcome of HBV infection.

Adult ; Alleles ; DNA ; genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; genetics ; HLA-DQ Antigens ; genetics ; HLA-DQ alpha-Chains ; HLA-DQ beta-Chains ; HLA-DR Antigens ; genetics ; HLA-DRB1 Chains ; Hepatitis B ; genetics ; Humans ; Male ; Polymerase Chain Reaction ; Polymorphism, Genetic

OBJECTIVETo investigate whether the polymorphisms of HLA-DPA1,DPB1,DQA1 and DQB1 alleles were associated with nasopharyngeal carcinoma(NPC).

METHODSEighty-seven NPC patients and 91 normal controls of Han nationality in Hunan province were genotyped for HLA-DPA1, HLA-DPB1,HLA-DQA1 and HLA-DQB1 by PCR/SSO technique.

RESULTSThe frequencies of allelic gene DPA1*0201, DPB1*1901 and DQA1*0201 were lower, and of DPB1*0402, DQA1*0101 were higher in patients than in controls; the frequencies of haplotype DPA1*0201-DPB1*1401 and DQA1*0201-DQB1*0201 in patients were lower than those in controls; however, the values of P are not significant after Bonferroni correction(Pc>0.05).

CONCLUSIONNo significant association between the HLA-DP and HLA-DQ loci and NPC in Han nationality in Hunan province was confirmed.

Adult ; Aged ; Asian Continental Ancestry Group ; genetics ; China ; ethnology ; Female ; Genetics, Population ; HLA-DP Antigens ; genetics ; HLA-DQ Antigens ; genetics ; HLA-DQ alpha-Chains ; HLA-DQ beta-Chains ; Humans ; Male ; Middle Aged ; Nasopharyngeal Neoplasms ; genetics

Adult ; Aged ; Alleles ; China ; ethnology ; Female ; HLA-DQ Antigens ; genetics ; HLA-DQ alpha-Chains ; HLA-DQ beta-Chains ; Haplotypes ; Humans ; Linkage Disequilibrium ; Male ; Middle Aged ; Phylogeny ; Polymerase Chain Reaction ; Polymorphism, Genetic

Alleles ; Asian Continental Ancestry Group ; Autoantibodies ; blood ; Cardiomyopathy, Dilated ; genetics ; immunology ; Case-Control Studies ; China ; ethnology ; Exons ; Female ; Genetic Predisposition to Disease ; HLA-DQ Antigens ; genetics ; HLA-DQ alpha-Chains ; HLA-DQ beta-Chains ; Humans ; Male ; Polymorphism, Genetic

OBJECTIVETo investigate the polymorphism of HLA-DQA1 and DQB1 genes of Han population in Jiangsu of China.

METHODSThe alleles and haplotypes frequencies of HLA-DQA1 and DQB1 genes in 100 unrelated healthy individuals were analyzed by using polymerase chain reaction-sequence-based typing (PCR-SBT).

RESULTSAmong the 7 DQA1 alleles detected, the most common allele was DQA1*0301/02/03 with a frequency of 29.5%, which was followed by DQA1*0501, DQA1*0102 and DQA1*0201 with frequencies of 18.5%, 17.0% and 12.5%, respectively. Of the 13 DQB1 alleles detected, DQB1*0201/02 allele (21.5%) was the most frequent allele, followed by DQB1*0301/09 (14.5%), DQB1*0303 (13.5%) and DQB1*0603 (11.5%). The most common DQA1 vs DQB1 haplotype was DQA1*0301/02/03 vs DQB1*0303 with a frequency of 12.5%, which was followed by the DQA1*0201-DQB1*0201/02 (10.5%),DQA1*0501-DQB1*0201/02 (9.5%) and DQA1*0501-DQB1*0301/09 (7.0%).

CONCLUSIONThe distribution of HLA-DQ alleles and haplotypes in Jiangsu Han population shares some genetic characteristics with other population in northern of China, but has its own characteristics. The data will provide useful information for anthropology, organ transplantation and disease association studies.

Adult ; Aged ; Alleles ; Asian Continental Ancestry Group ; genetics ; China ; Female ; Gene Frequency ; Genotype ; HLA-DQ Antigens ; genetics ; HLA-DQ alpha-Chains ; HLA-DQ beta-Chains ; Haplotypes ; Humans ; Male ; Middle Aged ; Polymerase Chain Reaction ; methods ; Polymorphism, Genetic ; Young Adult

OBJECTIVETo study the genetic polymorphisms of human leukocyte antigen (HLA)- A, B, C, DRB1, DQA1, DQB1, DPA1and DPB1among ethnic Hans from southern China.

METHODS481 randomly selected individuals were genotyped using a polymerase chain reaction (PCR) sequence-based typing (SBT) method for the above genes. Their allele frequencies were determined by direct counting.

RESULTSIn total, 28 HLA-A, 57 HLA-B, 28 HLA-C, 40 HLA-DRB1, 18 HLA-DQA1, 17 HLA-DQB1, 6 HLA-DPA1and 21 HLA-DPB1alleles were identified. Among these, common alleles (with allelic frequencies > 0.05) included A*1101, A*2402, A*0207, A*3303, A*0201, B*40:01, B*46:01, B*58:01, B*13:01, B*15:02, C*01:02, C*07:02, C*03:04, C*03:02, C*08:01, C*03:03, C*04:01, DRB1*09:01, DRB1*15:01, DRB1*12:02, DRB1*08:03, DRB1*03:01, DRB1*04:05, DRB1*11:01, DQA1*01:02, DQA1*03:02, DQA1*03:03, DQA1*06:01, DQA1*01:03, DQA1*05:05, DQA1*01:04, DQA1*03:01, DQA1*05:01, DQB1*03:01, DQB1*03:03, DQB1*06:01, DQB1*05:02, DQB1*03:02, DQB1*02:01, DQB1*03:02, DQB1*06:02, DPA1*02:02, DPA1*01:03, DPA1*02:01, DPB1*05:01, DPB1*02:01, DPB1*13:01, DPB1*04:01and DPB1*02:02.For each of the locus, the overall frequencies of common alleles were 75.57%, 52.81%, 78.28%, 62.16%, 86.70%, 77.23%, 95.32% and 81.59%, respectively.

CONCLUSIONThe allelic frequencies of the 8 selected HLA loci among ethnic Hans from southern China may served as a reference for anthropology, legal medicine, transplantation and disease association studies.

Alleles ; Asian Continental Ancestry Group ; genetics ; China ; Gene Frequency ; Genotype ; Genotyping Techniques ; methods ; HLA-A Antigens ; genetics ; HLA-B Antigens ; genetics ; HLA-C Antigens ; genetics ; HLA-DP Antigens ; genetics ; HLA-DQ alpha-Chains ; genetics ; HLA-DQ beta-Chains ; genetics ; HLA-DRB1 Chains ; genetics ; Histocompatibility Antigens Class I ; genetics ; Histocompatibility Antigens Class II ; genetics ; Humans ; Linkage Disequilibrium ; Polymerase Chain Reaction ; Polymorphism, Genetic

OBJECTIVETo investigate the HLA-DRB1, DQB1 allele polymorphism in Kunming Yi nationality population.

METHODSHLA-DRB1, DQB1 DNA types in 70 healthy children of Yi nationality in Kunming were analyzed by polymerase chain reaction with sequence specific primer (PCR-SSP).

RESULTSTwelve alleles at HLA-DRB1 locus were observed in the 70 children: the alleles with gene frequencies higher than 10% were HLA-DRB1*12(33.57%), DRB1*0901(11.43%), DRB1*04(11.43%); the alleles with gene frequencies between 10% and 5% were HLA-DRB1*01(8.57%), DRB1*11(7.86%), DRB1*14(7.14%), DRB1*15(7.14%), DRB1*08(5%); the alleles with gene frequencies lower than 5% were HLA-DRB1*03(2.86%), DRB1*13(2.14%), DRB1*07(1.43%), DRB1*16(1.43%). Seven alleles at HLA-DQB1 locus were observed in the 70 children: the alleles with gene frequencies higher than 10% were HLA-DQB1*0301(45%), DQB1*05(22.14%), DQB1*0303(12.14%); the alleles with gene frequencies between 10% and 5% were HLA-DQB1*04(6.43%), DQB1*06(6.43%); the alleles with gene frequencies lower than 5% were HLA-DQB1*0201(4.29%) and DQB1*0302(3.57%).

CONCLUSIONThe distribution of HLA-DRB1, DQB1 allele polymorphism in the Kunming Yi nationality population is distinctive. It is neither like that in the South Han population nor like that in the North Han population.

Alleles ; China ; HLA-DQ Antigens ; genetics ; HLA-DQ beta-Chains ; HLA-DR Antigens ; genetics ; HLA-DRB1 Chains ; Humans ; Polymorphism, Genetic

OBJECTIVETo analyze the status of HLA-DPA1 and DPB1 matching for unrelated donor-recipient pairs matched at high-resolution allele level for HLA-A, B, C, DRB1 and DQB1 loci.

METHODSA total of 76 unrelated donor-recipient pairs matching at allele level for HLA-A, B, C, DRB1 and DQB1 loci were subjected to HLA-DPA1 and DPB1 sequence-based typing (SBT). HLA-DPA1and DPB1 matching status at high-resolution allelic level was also analyzed.

RESULTSThe allelic identity ratio for single HLA-DPA1 and DPB1 were 17.1% and 9.2%, respectively. HLA-DPA1 and DPB1 allelic identity ratio were both very low. The majority of unrelated donor-recipient pairs (73.7%) had an incompatibility at 1 HLA-DPA1 allele, 9.2% of pairs had an incompatibility at 2 DPA1 alleles. As for the high-polymorphic HLA-DPB1 gene, 57.9% of studied donor-recipient pairs had an incompatibility at 1 HLA-DPB1 allele, almost 1/3 (32.9%) of them were completely incompatible. When HLA-DPA1 and DPB1 genes were analyzed together, the donor-recipient pairs matched at 2/4 was the most common (51.4%), 4/4 allelic complete matched pairs accounted for 5.6%, and 0/4 matched pairs accounted for 8.3%.

CONCLUSIONOur results indicated that the ratio of HLA-DPA1 and DPB1 complete match in the unrelated donor-recipient pairs matching at allelic level for HLA-A, B, C, DRB1 and DQB1 loci were very low. The effect of HLA-DPA1 and DPB1 matching status on clinical unrelated stem cell transplantation still needs to be elucidated.

Alleles ; HLA-DP alpha-Chains ; genetics ; HLA-DP beta-Chains ; genetics ; HLA-DQ beta-Chains ; genetics ; Histocompatibility Antigens Class I ; genetics ; Histocompatibility Testing ; methods ; Humans ; Transplantation ; methods ; Unrelated Donors

OBJECTIVETo delineate the immune regulatory pathway of benzene poisoning by using gene expression profile analysis.

METHODSPeripheral white blood cell gene expression profile of 7 benzene poisoning patients, including one aplastic anemia, was determined by microarray. Seven chips from normal workers were served as controls. Cluster analysis of gene expression profile was performed. Differentially expressed immune genes associated with benzene poisoning were determined.

RESULTSAmong the 2 779 target genes, 38 genes differentially expressed were identified, including 10 up-regulated genes such as CD59, TRA@, MCP etc, and 14 down-regulated genes such as HLA-DMB, HLA-DQA1, HLA-DPB1, ITGB2, PFC etc. Cluster analysis showed that the expression profiles of 38 genes were associated with benzene poisoning.

CONCLUSIONDifferentially expressed immune genes may play an important role in the pathogenesis of benzene poisoning.

Benzene ; poisoning ; CD59 Antigens ; genetics ; Case-Control Studies ; Cluster Analysis ; Female ; Gene Expression Profiling ; HLA-D Antigens ; genetics ; HLA-DP beta-Chains ; genetics ; HLA-DQ alpha-Chains ; genetics ; Humans ; Oligonucleotide Array Sequence Analysis