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

We report a case of 17-year-old female with juvenile onset systemic lupus erythematosus Who developed symptomatic unilateral sacroiliitis. She had neither HLA-DR3 nir B27 antigens. Though sacroiliitis have been reported in mail SLE patient. it has been rarely reported in female patients. The rare coexistence of SLE and sacroiliitis. described in this case. may not be determined soley by genetic factors; sacroiliitis may be just an infrequent manifestation of SLE.
Adolescent ; Female* ; HLA-DR3 Antigen ; Humans ; Lupus Erythematosus, Systemic* ; Postal Service ; Sacroiliitis*

Background: Systemic lupus erythematosus (SLE) is an autoimmune disease under genetic control. Growing evidences support the genetic predisposition of HLA-DRB1 gene polymorphisms to SLE, yet the results are not often reproducible. The purpose of this study was to assess the association of two polymorphisms of HLA-DRB1 gene (HLA-DR3 and HLA-DR15) with the risk of SLE via a comprehensive meta-analysis. Methods: This study complied with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement. Case-control studies on HLA-DRB1 and SLE were searched from PubMed, Elsevier Science, Springer Link, Medline, and Cochrane Library database as of June 2018. Analysis was based on the random-effects model using STATA software version 14.0. Results: A total of 23 studies were retained for analysis, including 5261 cases and 9838 controls. Overall analysis revealed that HLA-DR3 and HLA-DR15 polymorphisms were associated with the significant risk of SLE (odds ratio [OR]: 1.60, 95% confidence interval (CI): 1.316-1.934, P = 0.129 and OR: 1.68, 95% CI: 1.334-2.112, P = 0.001, respectively). Subgroup analyses demonstrated that for both HLA-DR3 and HLA-DR15 polymorphisms, ethnicity was a possible source of heterogeneity. Specifically, HLA-DR3 polymorphism was not associated with SLE in White populations (OR: 1.60, 95% CI: 1.320-1.960, P = 0.522) and HLA-DR15 polymorphism in East Asian populations (OR: 1.65, 95% CI: 1.248-2.173, P = 0.001). In addition, source of control was another possible source for both HLA-DR3 and HLA-DR15 polymorphisms, with observable significance for HLA-DR3 in only population-based studies (OR: 1.65, 95% CI: 1.370-1.990, P = 0.244) and for HLA-DR15 in both population-based and hospital-based studies (OR: 1.38, 95% CI: 1.078-1.760, P = 0.123 and OR: 2.08, 95% CI: 1.738-2.490, P = 0.881, respectively). Conclusions HLA-DRB1 gene may be a SLE-susceptibility gene, and it shows evident ethnic heterogeneity. Further prospective validations across multiple ethnical groups are warranted.
Case-Control Studies ; Gene Frequency ; genetics ; Genetic Predisposition to Disease ; genetics ; HLA-DR Serological Subtypes ; genetics ; HLA-DR3 Antigen ; genetics ; HLA-DRB1 Chains ; genetics ; Haplotypes ; genetics ; Humans ; Lupus Erythematosus, Systemic ; Odds Ratio ; Polymorphism, Genetic ; genetics

OBJECTIVETo study the risk factors of hepatitis B virus (HBV) intrauterine infection.

METHODSRisk factors of HBV intrauterine infection were analyzed by nested case control study.

RESULTSData from univariate analysis revealed that risk factors of HBV intrauterine infection were positive results on HLA-DR3 (OR = 4.71, 1.62-13.66), HBV DNA (OR = 6.59, 2.72-15.97) and HBeAg (OR = 4.53, 1.93-10.64) in pregnant women, HLA-DR3 (OR = 3.91, 1.18-12.94) in newborn, HLA-I) R3 (OR = 5.96, 1.14-31.15) both in pregnant women and her newborns and HBV infection in placentas (OR = 2.51,1.12-5.60). Results from Multivariate unconditional logistics regression analysis showed that the risk factors of HBV intrauterine infection were positive in both HLA-DR3 (OR = 4.65, 1.44-15.05) and HBV DNA (OR = 6.56, 2.65-16.23) in pregnant women. However, there was no interaction between the two factors. The exposure rate of other factors did not reveal the difference in the two groups. With the increase of HBV DNA in pregnant women, the risk of HBV intrauterine infection was rising (chi2 = 16.74, P < 0.05).

CONCLUSIONRisk factors of HBV intrauterine infection were HLA-DR3 positive and HBV DNA positive in pregnant women but there was no interaction between the two factors. The risk of HBV intrauterine infection was increased along with the increase of HBV DNA in pregnant women.

Adult ; DNA, Viral ; genetics ; Female ; HLA-DR3 Antigen ; metabolism ; Hepatitis B ; virology ; Hepatitis B virus ; genetics ; physiology ; Humans ; Infant, Newborn ; Infectious Disease Transmission, Vertical ; Logistic Models ; Pregnancy ; Pregnancy Complications, Infectious ; virology ; Risk Factors

BACKGROUND: The cause of autoimmune thyroid diseases (AITD), including Graves disease and Hashimotos thyroiditis, is largely unknown. To identify the genes responsible, most attention has been focussed on the HLA regions in the early studies. However, these studies have repeatedly shown a weak association between AITD and the HLA-DR3 in Caucasians. To understand and find out the mechanisms underlying the development of AITD, a search for non-HLA linked susceptibility genes is important. A recent study from American population have indicated an association between a polymorphism of CILA-4 gene and Graves disease. To clarify the relationship of the CTLA-4 polymorphism and AITD, the allele frequency of CTLA-4 gene from the patients with Graves disease and with Hashimotos thyroiditis in Korean papulation were analysed. METHODS: The CTLA-4 exon 1 polymorphism (49, A/G) was analysed by PCR-based, RFLP (Restriction Fragment Length Polymorphism) from 92 women and 37 men with Graves disease and 50 women and 9 men with Hashimotos thyroiditis diagnosed. Also, 287 healthy controls including 155 women and 132 men with no clinical evidence or family history of thyroid disease were enrolled. RESULTS: 1) In the group of Graves disease, there was significantly more patients with alanine homozygote (GG) than in control group (P<0.0005, RR=1.40). However, there was not significant with threonine homozygote (AA) between two groups (P=0.052). In the group of Hashimotos thyroiditis, no significant differences were found between all homozygotes and heterozygote. 2) In the group of Graves disease, there were significantly more patients with alanine homozygote (GG) (P<0.0001, RR=1.85) and significantly fewer patients with threonine homozygote (AA) than in the group of Hashimoto's thyroiditis (P<0.005, RR 0.25). CONCLUSION: Regardless of sex difference, alanine homozygote (GG) at exon 1 (codon 17) of CTLA-4 is associated with Graves disease in Korean population, which suggests genetic susceptibility is some role in the pathogenesis of Graves disease.
Alanine ; Exons ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Graves Disease ; Heterozygote ; HLA-DR3 Antigen ; Homozygote ; Humans ; Lymphocytes* ; Male ; Polymorphism, Restriction Fragment Length ; Sex Characteristics ; Threonine ; Thyroid Diseases* ; Thyroid Gland* ; Thyroiditis