No abstract available.
Alleles* ; Base Sequence* ; DNA* ; HLA-DR4 Antigen* ; HLA-DRB1 Chains*

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

BACKGROUND: It is known that HLA molecule can restrict specific IgE responses, but few studies have documented the association between HLA and sensitization to house dust mite(HDM). OBJECTIVE: To evaluate whether a specific HLA type can be a risk or protective factor for the development of HDM sensitivity. METHOD: Total 146 subjects were genotyped for HLA-DRB1 using PCR-SSP technique and HDM sensitivity, determined by skin prick test using two mite allergens, D. pteronyssinus (Dp) and D. farinae (Df). Subjects were grouped according to Dp or Df sensitivity and linkage analysis between HDM sensitivity and HLA-DRB1 genotype was performed. RESULTS: The data revealed higher allele frequencies of DRB1*07 in Dp or Df sensitive groups compared to insensitive groups (11.6% vs. 2.6% in Dp, 11.5% vs. 3.3% in Df group, p<0.05), but the other allele frequencies showed no difference. CONCLUSION: There was a significant association between HLA-DRB1*07 genotype and HDM sensitization. These results indicate that antigen presentation by HLA class II molecule restricts the development of specific IgE response to HDM.
Allergens ; Antigen Presentation ; Dust* ; Gene Frequency ; Genotype* ; HLA-DRB1 Chains* ; Immunoglobulin E ; Mites ; Pyroglyphidae* ; Skin

BACKGROUND: HLA-B40 includes two serologic specificities, B60 and B61, and at least 45 alleles of the B*40 group have been identified. B40 shows a gene frequency of 13.4% (B60 4.5%, B61 8.9%) in Koreans. In this study, the distribution of HLA-B40 alleles and their association with HLA-A, -Cw and -DRB1 alleles were investigated in the Korean population. METHODS: A total of 453 healthy unrelated Koreans including 215 parents from 108 families were studied. For all samples, HLA-A, B, C serological typing, HLA-Cw low resolution typing using polymerase chain reaction (PCR)-sequence specific oligonucleotide (SSO) method, and HLA-DRB1 geno-typing using PCR-single strand conformation polymorphism (SSCP) method were performed. All of the 112 samples (24.7%) typed as B40 by serology were analyzed for B40 alleles using the PCR-SSCP method. RESULTS: Four B40 alleles were detected in the Korean population and their allele frequencies were: B*4001 4.4%, B*4002 5.0%, B*4003 0.4%, and B*4006 3.2%. A significant association (P<0.05) was observed for B*4001 with A24, A11, Cw*03, DRB1*0405, and DRB1*1405; B*4002 with A2, A26, Cw*03, DRB1*0405, DRB1*0802, DRB1*1401, and DRB1*1405; and B*4006 with A2, Cw*08, DRB1*0901, and DRB1*1201. Each B40 allele was very strongly associated with a particular Cw allele: B*4001 -Cw*03, B*4002-Cw*03 and B*4006-Cw*08. However, B40-DRB1 haplotypes showed weaker associations and diversity. CONCLUSIONS: The Korean population shows a heterogeneity in the distribution of B40 alleles and related haplotypes, and thus B40 subtype mismatch can occur between serologically matched donorrecipient pairs in unrelated marrow transplantation.
Alleles* ; Bone Marrow ; Gene Frequency ; Genes, vif ; Haplotypes* ; HLA-A Antigens ; HLA-B40 Antigen ; HLA-DRB1 Chains ; Humans ; Parents ; Polymerase Chain Reaction ; Population Characteristics

OBJECTIVE: This study was conducted to elucidate the associations of HLA with systemic sclerosis (SSc) in Koreans. METHODS: HLA associations with SSc according to SSc-specific autoantibody status and clinical subsets (diffuse and limited) were investigated. HLA-A, B, and C antigens were typed by the serological method using microlymphocytotoxicity test, and HLA-DR by DNA typing method using PCR-reverse hybridization and PCR-SSCP in 56 Korean patients with SSc and 226 healthy controls. For SSc patients, anti-Scl-70 and anicentromere antibodies were tested by double immunodiffusion and indirect immunofluorescence, respectively. RESULTS: The results of HLA class I antigen typing showed that the frequencies of HLA-A24, B52 and B62 were increased, whereas those of A33, B44 and B58 were decreased in SSc patients compared to healthy controls. The frequency of HLA-DR2 was significantly increased, whereas that of HLA-DR13 was decreased in patients with SSc compared to controls. Among HLA-DR2 alleles, both HLA-DRB1*1501 and *1502 were increased in SSc patients compared to controls. According to clinical status, HLA-DRB1*1501 was increased in limited SSc patients and that of DRB1*1502 was increased both in diffuse and limited SSc patients compared to controls. According to autoantibody status, HLA- DRB1 1502 was significantly increased in anti-Scl-70-positive SSc patients and that of DRB1 1501 was increased in anti-Scl-70-negative SSc patients compared to controls. The association of HLA-DR2 alleles with SSc according to clinical subsets and anti-Scl-70 antibody status revealed that the frequency of HLA- DRB1 *1501 was significantly increased in anti-Scl-70-negative limited SSc patients compared to controls. CONCLUSIONS: These results suggest that different HLA-DR2 alleles are associated with different types of SSc in Koreans. HLA-DRB1 1502 shows strong association with anti-Scl-70-positive SSc, and DRB1 1501 with anti-Scl-70-negative limited SSc. It is concluded that the pathogenesis of SSc in Koreans is in part, based on the same genetic background.
Alleles ; Antibodies ; Asian Continental Ancestry Group ; DNA Fingerprinting ; Fluorescent Antibody Technique, Indirect ; HLA-A Antigens ; HLA-A24 Antigen ; HLA-DR Antigens ; HLA-DR2 Antigen ; HLA-DRB1 Chains ; Humans ; Immunodiffusion ; Scleroderma, Systemic*

BACKGROUND: Specific IgE responses to allergens provide useful models for evaluating the genetic factors that control human immune responses. HLA class II gene products are involved in the antigen presentation of exogenous antigens. OBJECTIVE: The aim of this study was to evaluate whether susceptibility or resistance to asthma induced by the citrus red mite (Panonychus citri, CRM) was associated with HLA class II gene-encoded antigens. METHODS: Peripheral venous blood samples were collected from two groups of unrelated Korean adults. Ninety-one patients with citrus red mite-induced asthma and 98 exposed, healthy control subjects. The second exon of the HLA-DRB1 genes was selectively amplified by the polymerase chain reaction method. HLA typing was carried out using PCR-sequence specific oligonucleotide probes(PCR-SSOP). RESULTS: The frequency of HLA-DR7 was significantly higher among the CRM-sensitive asthmatics than among the controls (17.6% vs 4.1%, RR=3.92, p=0.01). Conversely, the frequency of HLA-DR4 was significantly lower among the CRM-sensitive asthmatics than among the controls(19.8% vs 40.8%, RR=0.36, p=0.01). No significant difference was found in the distributions of the other HLA-DRB1 gene-encoded antigens between the two groups. CONCLUSION: HLA-DRB1 genes may be involved in the development of citrus red mite-induced asthma. In addition, HLA-DR7 may increase, and DR4 decrease, the risk of developing asthma in exposed individuals.
Adult ; Allergens ; Antigen Presentation ; Asthma* ; Citrus* ; Exons ; Genes, MHC Class II ; Histocompatibility Testing ; HLA-DR Antigens ; HLA-DR4 Antigen ; HLA-DR7 Antigen ; HLA-DRB1 Chains ; Humans ; Immunoglobulin E ; Mites* ; Polymerase Chain Reaction

BACKGROUND: Obstructive sleep apnea syndrome (OSAS) is believed to have multifactorial causes. The major risk factors for OSAS are obesity, narrowed upper airways, and abnormal cranial-facial structures. A genetic basis for OSAS has been also suggested by reports of families with many members affected. This study analyzed the HLA typing in patients with OSAS to determine the possible role of genetics in OSAS. METHODS: Twenty-five Korean patients with OSAS (1 woman and 24 men; age range 30-66 years) were enrolled in this study. A diagnosis of OSAS was made using full-night polysomnography. The control group consisted of 200 healthy Korean people. Serologic typing of the HLA-A and B alleles was performed in all patients using a standard lymphocyte microcytotoxicity test. Analysis of the polymorphic second exons of the HLA-DRB1 gene was performed using a polymerase chain reaction-sequence specific oligonucleotide probe. RESULTS: The allele frequency of HLA-A11 was significantly lower in patients with OSAS compared with the controls (p<0.05). The HLA-B allele frequencies in the patients and controls had a similar distribution. Analysis of the HLA- DRB1 gene polymorphisms showed an increased frequency of DRB1*09 in the OSA patients compared with the controls (p<0.05). When the analysis was performed after dividing the OSAS patients according to the severity of apnea, the allele frequency of HLA-DRB1*08 was significantly higher in the severe OSA patients (apnea index>45) than in the controls (p<0.05). CONCLUSION: This study revealed an association between OSAS and the HLA-A11 and DRB1*09 alleles as well as association between the disease severity and the HLA-DRB1*08 allele in Korean patients. These results suggest that genetics plays an important role in both the development and the disease severity of OSAS.
Alleles ; Apnea ; Cytotoxicity Tests, Immunologic ; Diagnosis ; Exons ; Female ; Gene Frequency ; Genetics ; Histocompatibility Testing ; HLA Antigens ; HLA-A Antigens ; HLA-A11 Antigen ; HLA-B Antigens ; HLA-DRB1 Chains ; Humans ; Lymphocytes ; Male ; Obesity ; Polysomnography ; Risk Factors ; Sleep Apnea, Obstructive*

OBJECTIVETo analyze the association between alleles of HLA-DRB1 and type I autoimmune hepatitis (AIH) in patients from Shanghai, China.

METHODSIn 32 Chinese patients with type I AIH and 48 healthy controls in Shanghai area, polymerase chain reaction amplification with sequence-specific primers (PCR-SSP) was performed to examine the association of the alleles of HLA-DRB1 and its subtypes with type I AIH.

RESULTSHLA-DRB1 typing by PCR-SSP showed that DR4 had a significantly increased frequency among patients with AIH versus healthy control (46.9% versus 20.8%; relative risk=3.35, chi(2)=5.99, P=0.014). No other alleles differed significantly between the two groups. In subtypes of DRB1*04, there was a trend for an increase in gene frequency of DRB1*0405 increased in patients with type I AIH versus healthy controls (21.9% vs 6.3%, chi(2)=4.23, P=0.04, but Pc=0.08). The frequency of arginine at position HLA-DR beta 71 of third hypervariable region significantly increased among patients with AIH versus healthy control (46.9% versus 18.8%, chi(2)=7.14, P=0.008).

CONCLUSIONSType I AIH in Chinese patients of Shanghai area is associated with HLA-DR4 and arginine at position DR beta 71 of third hypervariable region

Alleles ; Asian Continental Ancestry Group ; China ; DNA Primers ; Gene Frequency ; HLA-DR4 Antigen ; HLA-DRB1 Chains ; genetics ; Hepatitis, Autoimmune ; genetics ; Humans ; Polymerase Chain Reaction

OBJECTIVETo investigate the relationship between pemphigus vulgaris (PV) and human leukocyte antigen (HLA) in Han nation of northeast China.

METHODSStandard microcytotoxicity test and polymerase chain reaction-sequence specific primers method were used to detect the HLA class I antigens and HLA-DRB1 and DQB1 alleles in 27 patients with PV and results were compared with control group.

RESULTSGene and phenotype frequencies of HLA-A3, A26(10), B60(40), and B13 (27.99%, 48%; 16.11%, 30%; 23.02%, 41%; 16.11%, 30%, respectively) increased significantly in PV group compared with control (1.01%, 2%; 0.5%, 1%; 4.61%, 9%; 5.13%, 10%, respectively). After P value correction, the difference of A3, A26 (10), and B60 (40) between the two groups was still significant. The gene frequencies of HLA-DRB1*140x (1401, 1404, 1405, 1407, 1408), DRB1*120x, and DQB1*0503 alleles in PV group (42.26%, 25.46%, and 23.02%) were significantly higher than control group (5.09%, 7.74%, and 1.89%). After P value correction, the difference was still significant between the two groups.

CONCLUSIONPV significantly relates with HLA in PV patients of Han nation of northeast China.

Adult ; Aged ; Asian Continental Ancestry Group ; ethnology ; China ; ethnology ; Female ; Gene Frequency ; HLA-A Antigens ; genetics ; HLA-A3 Antigen ; genetics ; HLA-B Antigens ; genetics ; HLA-DQ Antigens ; genetics ; HLA-DQ beta-Chains ; HLA-DR Antigens ; genetics ; HLA-DRB1 Chains ; Humans ; Male ; Middle Aged ; Pemphigus ; genetics ; Phenotype

BACKGROUND: Hepatitis B virus (HBV)-associated glomerulonephritis (HBGN) occurs with high prevalence in Asia, and accounts for over 30% of secondary glomerulonephritis in Korea. However, the association between HLA and HBGN has been hardly reported upon in the literature. METHODS: A total of 50 Korean patients with HBGN, 100 HBsAg (-) healthy controls and 89 HBsAg (+) controls (subjects with chronic HBV infection, HBsAg positive at least for 6 months) were included. HLA-DR typing was done using a reverse sequence specific oligonucleotide typing kit and HLA-DRB1 genotyping was done for HLA-DR2 positive samples by PCR-single strand conformational polymorphism method. RESULTS: In the HBGN patients, HLA-DR2 was highly significantly increased compared with HBsAg (-) controls (p=0.0002, corrected p=0.002, OR=4.0) and also compared with HBsAg (+) controls (p= 0.0005, corrected p=0.006, OR=3.7). Different HLA- DR2 alleles were strongly associated with different pathologic subtypes of HBGN: DRB1*1502 was associated with membranoproliferative glomerulonephritis (MPGN) (p=0.0003, corrected p=0.004, OR=14.5), and DRB1*1501 with membranous nephropathy (MN) (p= 0.05, OR=3.8). These associations were also found to be significant compared with HBsAg (+) controls (HBV-MPGN, p=0.002; HBV-MN, p=0.04). DR13 was found to have some protective effect in HBV infection (p=0.01, OR=0.3) and DR11 was found to be weakly associated with HBV infection (p=0.01, OR= 4.6), however these HLA alleles were not associated with disease susceptibility to HBGN. CONCLUSION: These results suggest that HLA- DR2 or a closely associated genetic factor is associated with disease susceptibility to HBGN, and different HLA-DR2 subtypes are associated with different pathologic subtypes of HBGN in Koreans.
Alleles ; Asia ; Disease Susceptibility ; Fibrinogen ; Glomerulonephritis* ; Glomerulonephritis, Membranoproliferative ; Glomerulonephritis, Membranous ; Hepatitis B Surface Antigens ; Hepatitis B virus ; Hepatitis B* ; Hepatitis* ; HLA-DR Antigens* ; HLA-DR2 Antigen ; HLA-DRB1 Chains ; Humans ; Korea ; Prevalence