OBJECTIVETo study the relationship between the nonresponse to hepatitis B vaccine and HLA genotype/heplotype in Chinese population and provide the evidence for explaining the genetic mechanism of this nonresponse.

METHODSOur research focused on the relationship between nonresponse to Hepatitis B vaccine and HLA-DRB1, DRB3, DRB4, DRB5 and DQB1 genotype/haplotype in Chinese population, collected from a community in Guangxi Zhuang Autonomous Region. The group specific amplification was employed to characterize 107 individuals' genotype and haplotype of HLA clusters. Different models statistics such as relative risk test, correlation test and linkage disequilibrium analysis were used to analyze the data.

RESULTSThe results showed that there is a linkage disequilibrium between nonresponse to Hepatitis B vaccine and HLA haplotype DR4, 1122 (DRB1 * 0401- 22, 1122)-DR53 (DRB4 * 0101101, 0102/3)-DQB4 (DQB1 * 04).

CONCLUSIONIn Chinese population, nonresponse to hepatitis B vaccine is highly associated with special HLA haplotye.

Asian Continental Ancestry Group ; genetics ; China ; Genotype ; HLA-DQ Antigens ; classification ; genetics ; HLA-DQ beta-Chains ; HLA-DR Antigens ; classification ; genetics ; HLA-DRB1 Chains ; HLA-DRB3 Chains ; HLA-DRB4 Chains ; HLA-DRB5 Chains ; Haplotypes ; Hepatitis B ; genetics ; immunology ; prevention & control ; Hepatitis B Vaccines ; immunology ; Humans ; Linkage Disequilibrium

OBJECTIVETo analyze the allele frequencies and polymorphism of human leukocyte antigens (HLA) -A, B, Cw, DRB1 and DQB1 between donors-recipients on high-resolution typing; and to analyze the matching and mismatching proportion between donors and recipients.

METHODSHLA high-resolution types were determined by sequence based typing (SBT), sequence specific oligonucleotide probe (SSOP) and sequence specific primer (SSP) on 2540 unrelated Chinese Han individuals including 1168 recipients and 1372 donors, then statistical analyses were carried out.

RESULTSForty-four HLA-A alleles were detected, and among them the frequencies of A*1101, A*2402, A*0201, A*0207, A*3303, A*0206 and A*3001 exceeded 0.05, and accounted for 80.4%. Eighty-one HLA-B alleles were detected, and the frequencies of B*4001, B*4601, B*5801, B*1302 and B*5101 exceeded 0.05, and accounted for 43.0% of total. There were 44 HLA-Cw alleles, among them the frequencies of Cw*0702, Cw*0102, Cw*0304, Cw*0801, Cw*0602, Cw*0303, Cw*0302 and Cw*0401 exceeded 0.05, and were 80.3% of total. There were 61 HLA-DRB1 alleles, the frequencies of DRB1*0901, DRB1*1501, DRB1*1202, DRB1*0803, DRB1*0701, DRB1*0405, DRB1*0301 and DRB1*1101 exceeded 0.05, and were 70.1% of total. Finally, 22 HLA-DQB1 alleles were detected, the frequencies of DQB1*0301, DQB1*0303, DQB1*0601, DQB1*0602, DQB1*0202, DQB1*0302, DQB1*0401, DQB1*0502 and DQB1*0201 exceeded 0.05, and they were 87.4% of total. All the five loci were of heterozygote deficiency. The HLA-A, B and DRB1 loci conformed to Hardy-Weinberg equilibrium (HWE) (P > 0.05); but HLA-Cw and HLA-DQB1 loci did not (P < 0.05). Except several particular genotypes, all the five loci conformed to HWE. After comparing data between donors and recipients, only 22.4% of recipients found HLA matched donors (10/10); 24.6% of recipients found single HLA allele mismatched donors (9/10); 26.3% of recipients had two HLA alleles mismatched donors (8/10).

CONCLUSIONThe characteristics of allele frequencies and polymorphism of HLA-A, B, Cw, DRB1 and DQB1 on high-resolution typing in Chinese Han population is valuable for donor searching in unrelated hematopoietic stem cell transplantation, and it provides genetic basis for donor registry and usage of donor resource for Chinese Marrow Donor Program.

China ; ethnology ; Gene Frequency ; Genetics, Population ; HLA-A Antigens ; genetics ; HLA-B Antigens ; genetics ; HLA-C Antigens ; genetics ; HLA-D Antigens ; genetics ; HLA-DQ Antigens ; genetics ; HLA-DQ beta-Chains ; HLA-DR Antigens ; genetics ; HLA-DRB1 Chains ; Hematopoietic Stem Cell Transplantation ; Histocompatibility Antigens Class I ; genetics ; Histocompatibility Testing ; Humans ; Tissue Donors

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

This study was conducted to investigate the etiology, the clinical characteristics and prognosis of acute necrotizing encephalopathy (ANE) in Korean children. Six children (1 yr to 7 yr) patients with ANE were enrolled. They were diagnosed by clinical and radiological characteristics and their clinical data were retrospectively analyzed. In a search of clinically plausible causes, brain MRI in all patients, mitochondrial DNA studies for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) and myoclonus epilepsy and ragged red fibers (MERRF) in four patients, and genomic typing on HLA DRB/HLA DQB genes in three patients were performed. All had precedent illnesses and the main initial symptoms included mental change (83%), seizures (50%), and focal deficits (50%). MRI revealed increased T2 signal density in the bilateral thalami and/or the brainstem in all patients. Mitochodrial DNA studies for MELAS and MERRF were negative in those children and HLA-DRB1*1401, HLA-DRB3*0202, and HLA-DQB1*0502 seemed to be significant. A high dose steroid was given to all patients, which seemed to be partly effective except for 2 patients. In conclusion, ANE is relatively rare, but can result in serious neurological complication in children. Early detection and appropriate treatment may lead to a better neurological outcome.
Child ; Child, Preschool ; Female ; HLA-DQ Antigens/metabolism ; HLA-DQ beta-Chains ; HLA-DR Antigens/metabolism ; HLA-DRB1 Chains ; HLA-DRB3 Chains ; Humans ; Infant ; Korea ; Leukoencephalitis, Acute Hemorrhagic/diagnosis/etiology/*pathology/*physiopathology ; MELAS Syndrome/pathology/physiopathology ; MERRF Syndrome/pathology/physiopathology ; Magnetic Resonance Imaging ; Male ; Prognosis ; Retrospective Studies

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 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

OBJECTIVETo investigate the relation between the susceptibility to silicosis and the polymorphism of HLA-DRB1 *, DQB1 * genes in Chinese Hans.

METHODSHLA-DRB1 * and DQB1 * gene polymorphism were tested in 48 silicosis patients and 100 normal controls by using polymerase chain reaction of sequence-specific primers (PCR-SSP).

RESULTSThe allele frequencies of DRB1 * 1401 and DQB1 * 05 in silicosis patients were significantly higher than those in normal controls (chi 2 = 5.61, P = 0.0066, RR = 17.40; chi 2 = 10.70, P = 0.0011, RR = 3.81, respectively), while the allele frequency of DRB1 * 09 was significantly lower in silicosis patients than that in controls (chi 2 = 5.70, P = 0.0187, RR = 0.21). There was a significant difference between the patient group and control group.

CONCLUSIONHLA-DRB1 * 1401 and DQB1 * 05 may be the susceptible genes and HLA-DRB1 * 09 the protection gene of silicosis, both susceptibility and protection may be related to HLA-DR gene locus. The joint action of allele genes may affect the pathogenesis of silicosis.

Gene Frequency ; Genetic Predisposition to Disease ; HLA-DQ Antigens ; genetics ; HLA-DQ beta-Chains ; HLA-DR Antigens ; genetics ; HLA-DRB1 Chains ; Humans ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Silicosis ; genetics

Kleine-Levin syndrome (KLS) is characterized by recurring episodes of hypersomnia, megaphagia, and abnormal behavior. We report two cases of KLS. Two boys, aged 18 (case 1) and 17 (case 2), had recurrent episodes of hyper-somnolence with compulsive eating or drinking and hypersexuality for several years. HLA-DR typing was HLA-DR3 and 13 in case 1 and HLA-DR4 and 10 in case 2. Case 1 showed hypersomnia with early onset of REM sleep on MSLT and frequent frontal intermittent rhythmic delta activity on EEG. Both cases showed no abnormalities on brain MRI. HLA-DR typing facilitates differentiation between KLS and narcolepsy by the absence of HLA-DR2.
Brain ; Disorders of Excessive Somnolence ; Drinking ; Eating ; Electroencephalography ; HLA-DR Antigens ; HLA-DR2 Antigen ; HLA-DR3 Antigen ; HLA-DR4 Antigen ; Kleine-Levin Syndrome* ; Magnetic Resonance Imaging ; Narcolepsy ; Sleep, REM

OBJECTIVE: A genetic predisposition is widely accepted in schizophrenia. This study was intended to find any association of HLA-DRB1 alleles with Korean schizophrenics and thereby compare the results of other ethnic groups. METHODS: The subjects were 70 unrelated Korean patients. Low and high resolution typing of HLA-DRB1 alleles were performed. The comparison groups were 2,000 unrelated healthy Koreans for low resolution HLA-DR and 229 unrelated healthy Koreans for HLA-DRB1 alleles. RESULTS: Gene frequencies of HLA-DR11(patients 9.0%, healthy control 3.8%, p=0.005) and HLA-DRB1*1101(patients 9.0%, healthy control 1.8%, p< .001) were significantly higher in Korean schizophrenics. CONCLUSIONS: The frequency of HLA-DR11 (HLA-DRB1*1101) is significantly higher in Korean schizophrenics than in healthy Koreans. HLA-DR4 and HLA-DR1, which were known to be associated with Caucasian and Japanese schizophrenics, respectively, did not show statistical association with Korean schizophrenics. This association need to be reassured through further studies with families or association study with larger numbers of subjects.
Alleles* ; Asian Continental Ancestry Group ; Ethnic Groups ; Gene Frequency ; Genetic Predisposition to Disease ; HLA-DR Antigens ; HLA-DR1 Antigen ; HLA-DR4 Antigen ; HLA-DRB1 Chains* ; Humans ; Schizophrenia

OBJECTIVETo investigate the predisposing role of HLA-DRB1, DQB1 genes in pemphigus vulgaris (PV).

METHODSPolymerase chain reaction-specific sequence primers method was used to type HLA-DRB1, DQB1 subregion in the patients with PV of Han nationality from Jiangsu and Anhui provinces and matched control subjects.

RESULTSDR4, DRB1*14(*1401,*1404,*1405) gene frequencies in PV patients were significantly higher than those in controls (Pc<0.05 and Pc<0.01 respectively). DQB1*0302, DQB1*0503 gene frequencies were significantly higher in PV patients (Pc<0.05). Further typing of DR4 positive subjects revealed that the gene frequencies of DRB1*0406, *0403 were significantly increased in PV patients as compared with controls (Pc<0.05). The haplotype frequencies of HLA-DRB1*04, DQB1*0302 and HLA-DRB1*14, DQB1*0503 in PV patients were significantly higher than those in controls (P<0.05).

CONCLUSIONThe results suggest that the combination of HLA-DRB1*4, DQB1*0302 and HLA-DRB1*14, DQB1*0503 forms putative susceptible haplotypes for PV patients in Chinese Hans.

Adult ; Aged ; Aged, 80 and over ; China ; DNA ; genetics ; Female ; Gene Frequency ; Genotype ; HLA-DQ Antigens ; genetics ; HLA-DQ beta-Chains ; HLA-DR Antigens ; genetics ; HLA-DRB1 Chains ; Humans ; Male ; Middle Aged ; Pemphigus ; genetics