Tumor necrosis factor alpha promoter polymorphism associated with increased susceptibility to secondary hemophagocytic lymphohistiocytosis in the Korean population

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Chang, Yoon Hwan; Lee, Dong Soon; Jo, Heui Seung; Cho, Sung-Il; Yoon, Hyung-Jin; Shin, Sue; Yoon, Jong-Hyun; Kim, Ho Young; Hong, Young Joon; Hong, Seok Il; Cho, Han Ik
Issue Date
Academic Press
Cytokine. 2006 Oct;36(1-2):45-50. Epub 2006 Dec 12.
AdolescentAdultAgedAllelesChildChild, PreschoolDisease SusceptibilityFemaleGenotypeHumansInfantKoreaLymphohistiocytosis, Hemophagocytic/*genetics/*pathologyMaleMiddle AgedPolymorphism, Genetic/*geneticsPromoter Regions, Genetic/*geneticsTumor Necrosis Factor-alpha/*genetics
Secondary hemophagocytic lymphohistiocytosis (HLH) can be associated with various diseases including infections and lymphoma. The clinical findings of HLH can be explained by an increased production of cytokines such as tumor necrosis factor alpha (TNF-alpha). As not all the patients with infection or lymphoma have secondary HLH, we investigated the relationship between susceptibility to secondary HLH and TNF-alpha promoter polymorphisms to identify genetic factors of secondary HLH. We determined the alleles of four promoter sites (-1031/-857/-308/-238) of TNF-alpha gene by using Taqman-based allelic discrimination assays in the 66 Korean patients with secondary HLH and 100 healthy Korean controls. We found that the frequency of the TNF-alpha -1031C allele, which is associated with higher-plasma TNF-alpha levels, was enriched in patients with secondary HLH compared with healthy controls (OR=2.00, 95% CI 1.20-3.30, P=0.007). In haplotype analysis of TNF-alpha polymorphisms, the haplotype H6 (CTGG) was detected only in the patient group, and the haplotype group (H2 or H5 or H6) including TNF-alpha -1031C allele was overexpressed in secondary HLH patients (OR=2.52, 95% CI 1.33-4.77, P=0.004). These results suggested that TNF-alpha -1031C allele and its associated haplotypes in Koreans may enhance susceptibility to secondary HLH.
1043-4666 (Print)
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College of Medicine/School of Medicine (의과대학/대학원)Laboratory Medicine (검사의학전공)Journal Papers (저널논문_검사의학전공)
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