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한국인 건선 환자에서의 IL-1B (-511, +3954)와 IL-1RN 유전자의 다양성 조사
김양겸,표철우,김태윤,김태규,Kim, Yang-Kyum,Pyo, Chul-Woo,Kim, Tae-Yoon,Kim, Tai-Gyu 대한면역학회 2003 Immune Network Vol.3 No.3
Background: Psoriasis is an inflammatory skin disorder that is characterized by a marked proliferation of keratinocytes, vascular dilation and leukocyte infiltration. Cytokines play important roles in the pathogenesis of inflammatory disorders. An overexpression of proinflammatory cytokines was characterized in psoriasis plaque. Among these cytokines, IL-$1{\beta}$ is major pro-inflammatory cytokine synthesized during the infection and inflammatory process. The IL-1 receptor antagonist (IL-1Ra) competes for the same IL-1 receptor for $IL-1{\alpha}$ and $-1{\beta}$, which prevents activation of the target cells. Three single nucleotide polymorphisms (SNPs) in the IL-$1{\beta}$ gene have been reported at position -31, -511 and +3954. Within the IL-1Ra gene (IL-1RN), there is a variable number of tandem repeats (VNTR) of an 86 bp length in intron 2. These polymorphisms related to cytokine production and associated with various diseases. Methods: We investigated the polymorphisms of IL-1B (promoter -511 and +3954) and IL-1RN on 114 psoriasis patients and 311 healthy normal controls in Korean. We performed PCR-RFLP on single nucleotide polymorphisms (SNPs) of IL-1B (promoter -511 and +3954) and fragment analysis on IL-1RN 86 bp VNTR polymorphism. Results: The frequency of IL-1B $-511^*1$ allele (patients vs. controls; 50.0% vs. 42.3%, RR=1.4) was significantly increased and IL-1B $-511^*2$ allele (patients vs. controls; 50.0% vs. 57.7%, RR=0.7) decreased in psoriasis patients compared to normal controls. We also analyzed the IL-1B -511 polymorphism according to patients' characters (age of onset, sex and family history). The IL-1B -511 alleles were significantly associated in patients with male and family history than health normal controls. There were no significant associations of IL-1B +3954 and IL-1RN polymorphisms with psoriasis patients. Conclusion: These results suggest that the polymorphism of IL-1B -511 could be genetic susceptibility to psoriasis in Koreans.
HIV감염과 MICA (MHC class I chain-related A) 대립 유전자의 연관성
강문원,위성헌,김양리,이주실,표철우,한훈,김태규,Kang, Moon-Won,Wie, Seong-Heon,Kim, Yang-Ree,Lee, Joo-Shil,Pyo, Chul-Woo,Han, Hoon,Kim, Tai-Gyu 대한면역학회 2001 Immune Network Vol.1 No.2
Background: A large number of diseases occur in association with specific HLA-B or-C alleles. Recently a new gene, termed maj or histocompatibility complex class I chain-related gene A (MICA), has been identified in close proximity to HLA-B. The function of this gene is still unknown. However, it is structurally similar to HLA class I genes. MICA gene is polymorphic and is potentially associated with several diseases. Methods: To evaluate the association of MICA gene in Korean patients with human immunodeficiency virus 1 (HIV-1) infections, Polymerase chain reaction-Sequence specific primer (PCR-SSP) was done for MICA alleles in the extracellular exons, and a microsatellite analysis for GCT repeat polymorphisms in the TM exon was also completed. Results: In 199 Korean healthy controls, 7 alleles were observed and the frequencies for each allele were MICA008 (44.7%), MICA0 10 (34.2%), MICA002 (31.7%), MICA004 (23.6%), MICA0 12 (2 1.6%), MICA009 (19.6%), and MICA007 (6.5%). When 65 HIV seropositive patients were analyzed, MICA007 allele frequency was significantly higher than in controls (15.4% vs 6.5 %, RR=2.6, p<0.04). In contrast, the frequencies of other MICA alleles and microsatellite alleles in the transmembrane region of MICA gene were not significantly different between HIV seropositive patients and controls. The tight linkage between MICA alleles in the extracellular exons and GCT repeat polymorphisms in the TM exon was observed as follows; MICA002/A9, MICA004/A6, MICA007/A4, MICA008/A5.1, MICA0 10/A5, and MICA0 12/A4 in both groups. No significant difference between patients and controls was observed in the haplotype frequencies of MICA alleles in the extracellular exons and GCT repeat polymorphisms in the TM exon. Conclusion: The data suggest that immune functions related with MICA gene may affect a HIV infections.
B형 간염 바이러스의 만성 감염 및 수직 감염 예방과 HLA 대립유전자와의 연관성
김종현(Jong-Hyun Kim),표철우(Chul-Woo Pyo),허성숙(Seong-Suk Hur),김양겸(Yang-Kyum Kim),고대균(Dae-Kyun Koh),오진희(Jin-Hee Oh),허재균(Jae-Kyun Hur),강진한(Jin-Han Kang),백순영(Soon-Young Paik),유문간(Mun-Gan Rhyu),김금용(Gum-Ryong Ki 대한미생물학회 2003 Journal of Bacteriology and Virology Vol.33 No.3