1.The relationship between nonresponse to hepatitis B vaccine and HLA genotype/haplotype.
Mingyue LI ; Rongcheng LI ; Shangzhi HUANG ; Jian GONG ; Xianjia ZENG ; Yanping LI ; Ming LU ; Hui LI
Chinese Journal of Preventive Medicine 2002;36(3):180-183
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
2.Kleine-Levin Syndrome: Two Cases.
Journal of the Korean Neurological Association 1999;17(5):702-704
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
3.Study on the polymorphisme of human leucocyte antigen-DRB1, -DQA1 and -DQB1 alleles in patients with hepatitis B.
Chinese Journal of Epidemiology 2004;25(4):337-340
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
4.Association between Korean Schizophrenics and HLA-DRB1 Alleles.
Na Young HWANG ; Jong Won KIM ; Heung Bum OH ; Ji Hee CHO ; Sun Young OH ; Jin Pyo HONG ; Jong Ik PARK ; Dong Eun LEE
Journal of Korean Neuropsychiatric Association 2000;39(5):889-897
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
5.Clinical Spectrum and Prognostic Factors of Acute Necrotizing Encephalopathy in Children.
Hye Eun SEO ; Su Kyeong HWANG ; Byung Ho CHOE ; Min Hyun CHO ; Sung Pa PARK ; Soonhak KWON
Journal of Korean Medical Science 2010;25(3):449-453
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
6.Analysis of HLA-DRB1,DQB1 allele polymorphism in the Kunming Yi nationality population.
Gesheng WEN ; Yongkun HUANG ; Ping HAO ; Qin QI ; Hailin LI ; Lifang ZHOU ; Liyan ZHOU ; Liping YU
Chinese Journal of Medical Genetics 2004;21(5):522-523
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
7.Antigenic distribution of HLA - DRB1 locus in citrus red mite ( Panonychus citri ) - sensitive asthma.
Jee Woong SOHN ; You Young KIM ; Yoon Keun KIM ; Heung Bum OH ; Myung Hyun LEE ; Yoon Suk CHANG ; Jae Won JUNG ; Hyun Sook JEE ; Sang Heon CHO ; Kyung Up MIN
Journal of Asthma, Allergy and Clinical Immunology 1999;19(5):713-719
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
8.The relationship between silicosis and the polymorphism of HLA-DRB1 *, DQB1 * genes.
Baojun YUAN ; Zhixin ZHANG ; Hongfen LI ; Yanhe CHANG ; Zhizhong LIU ; Jimin ZOU ; Wei LI ; Xiaoyan SHAN
Chinese Journal of Industrial Hygiene and Occupational Diseases 2002;20(2):93-96
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
9.Diagnosis of childhood narcolepsy and significance of HLA in its diagnosis.
Hu-sheng WU ; Yu-hong GUO ; Li-ping ZOU ; Fang HAN ; Wu-chang ZHANG ; Fang FANG ; Jing XIAO ; Chang-hong DING ; Jing LI ; Chun-hong CHEN
Chinese Journal of Pediatrics 2004;42(4):248-251
OBJECTIVENarcolepsy is a lifelong sleep disorder characterized by excessive daytime sleepiness, and features of rapid eye movement (REM) sleep, such as cataplexy, sleep paralysis and hypnagogic hallucinations. The present study aimed to investigate the diagnostic basis of childhood narcolepsy and possible role of HLA Class II alleles in the onset of this disease.
METHODSThe clinical data of 40 narcoleptic children were analyzed. All patients received Multiple Sleep Latency Test (MSLT) and they were analyzed in combination with clinical features. Polymerase chain reaction/sequence specific primers (PCR/SSP) methods were used to detect the HLA-DRB1 and DQB1 alleles.
RESULTSNarcolepsy was diagnosed in 40 children. The age range was 3 to 14 years (mean 8.5 +/- 2.5 years), 29 were male and 11 female. Their mean course of disease was 6.5 months, 14 patients (30%) were less than 3 months old, 21 patients (52%) were less than 6 months old. All the patients had excessive daytime sleepiness, cataplexy appeared in 37 cases, hypnagogic hallucination in 22 and sleep paralysis in 6. Mean sleep latency on MSLT was less than 5 min, the average number of sleep-onset rapid eye movement (SOREM) was 4.33 +/- 0.26 episodes (2-5 episodes), the latency of SOREM episodes were 4.0 +/- 1.8 min (0.25-4.9 min). Thirty-five patients were DRB1 1501 and DQB1 0602 positive (Pc < 0.01), 2 were DRB1 1502 and DQB1 0601 positive, while 3 were DRB1 15 and DQB1 6 negative.
CONCLUSIONSSome pediatric patients with narcolepsy were different from adult patients in that the pediatric cases had a sudden onset and shorter disease course. Diagnosis of this disease was based on the clinical manifestations, MSLT and absence of any medical or psychiatric disorder that could account for the symptoms. The authors demonstrated that DRB1 1501 and DQB1 0602 were susceptibility genes for narcolepsy and those who were DRB1 15 negative could not be excluded.
Adolescent ; Child ; Child, Preschool ; Female ; Genetic Predisposition to Disease ; genetics ; HLA-DQ Antigens ; genetics ; HLA-DQ beta-Chains ; HLA-DR Antigens ; genetics ; HLA-DRB1 Chains ; Humans ; Infant ; Male ; Narcolepsy ; diagnosis ; genetics ; physiopathology ; Polymerase Chain Reaction