• Journal of Digital Convergence
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• v.14 no.1
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• pp.321-326
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• 2016

The aim of this study was to evaluate the association between TNF polymorphism and generalized aggressive periodontitis (GAP) in Korean subjects. The study population consisted of 60 subjects with GAP and 81 reference group. Genomic DNA was extracted from the buccal swabs and the polymorphisms of $TNF-{\alpha}-308$, -238 promoter genes, $TNF-{\beta}+252$ and TNFR 2+587 were determined by PCR-RFLP using restriction enzymes. The genotype distribution in the GAP were 3.2%, 38.7%, and 82.35% for A/A, A/G and G/G genotypes of $TNF-{\alpha}-308$. At the position of $TNF-{\alpha}-238$, the genotype distribution in the GAP were 25.5% and 74.5% for A/G and G/G genotypes. Allele A frequency of $TNF-{\alpha}-238$ were 67.6% in GAP and 72.2% in reference group. According to these findings, the polymorphism at $TNF-{\alpha}-308$ and -238 may be associated with GAP in Korean.

• Clinical and Experimental Pediatrics
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• v.53 no.4
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• pp.548-553
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• 2010

Purpose : IgA nephropathy (IgAN) is the most commonly occurring form of chronic glomerulonephritis in pediatric cases. Human leukocyte antigen (HLA) genes have been implicated in various inflammatory and autoimmune diseases. The present study was conducted to investigate the association between 2 single nucleotide polymorphisms (SNPs) of the HLA-G gene and childhood IgAN. Methods : The authors analyzed and compared $HLA-G$ gene SNPs (rs1736936 and rs2735022) in 174 patients with childhood IgAN and in 438 healthy controls. In addition, IgAN patients were dichotomized and compared with respect to proteinuria (< and >$4mg/m^2/hour$), the presence or absence of podocyte foot process effacement, and the presence of pathologically early and advanced disease markers such as interstitial fibrosis, tubular atrophy, or global sclerosis. Results : No significant SNP frequency differences were observed for the $HLA-G$ gene between IgAN patients and the control group. Moreover, no significantly associated SNP was observed with the presence of proteinuria, podocyte foot process effacement, or pathologically advanced markers. However, the haplotype, composed of rs1736936 and rs2735022, showed a significant association with the susceptibility to develop childhood IgAN (haplotype T/C: dominant model, $P$=0.049; haplotype C/T: recessive model, $P$=0.030). Conclusion : Our results indicate that rs1736936 and rs2735022 as the $HLA-G$ gene promoter haplotype might be associated with the susceptibility to develop childhood IgAN in the Korean population.