The frequency of A91V in the perforin gene and the effect of tumor necrosis factor-alpha promoter polymorphism on acquired hemophagocytic lympholmstiocytosis

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dc.contributor.authorOkur, Hamza
dc.contributor.authorUnal, Sule
dc.contributor.authorBalta, Gunay
dc.contributor.authorEfendioglu, Didem
dc.contributor.authorCimen, Eren
dc.contributor.authorCetin, Mualla
dc.contributor.authorGumruk, Fatma
dc.date.accessioned2020-06-25T17:51:48Z
dc.date.available2020-06-25T17:51:48Z
dc.date.issued2011
dc.departmentKırıkkale Üniversitesi
dc.descriptionUNAL, SERHAT/0000-0003-1184-4711
dc.description.abstractObjective: Numerous acquired etiological factors, such as infections, malignancies, and collagen tissue disorders, are involved in the development of acquired hemophagocytic lymphohistiocytosis (AHLH). Not everyone with the same etiological factors developments AHLH, which suggests the role of additional genetic or environmental predisposing factors that remain to be identified. Materials and Methods: Perforin gene A91V missense transition (C>T change at position 272 in exon 2 of the perforin gene) and TNF-alpha gene promoter-1031 T>C nucleotide substitution are 2 candidate genetic predisposing factors due to their potential to alter inflammatory responses. In the present study these changes were investigated in healthy controls and AHLH patients. Results: A91V transition was observed in 7 of the 159 (4.4%) controls. Among the 44 AHLH patients, 5 (11.3%) were heterozygous and the difference in the frequency of A91V transition, although striking (odds ratio: 2.8), was not statistically significant (p=0.09). All A91V-positive patients had infection. TNF-alpha-1031 T>C polymorphism was examined in 164 healthy controls and 40 AHLH patients, and the CC risk-elevating genotype was noted in 7 (4.3%) of the controls and 1 (2.5%) of the AHLH patients. The frequency of C and T alleles was 22.5% (n=18) and 77.5% (n=62) among the AHLH patients, and 22% (n=72) and 78% (n=259) among the controls, respectively. There wasn't a statistically significant difference between the groups in terms of allele frequencies (p>0.05). Conclusion: The present results indicate that compared to controls, A91V mutation was 2.8-fold more prevalent (according to the odds ratio) in the AHLH patients. A91V mutation is not uncommon in the general population and increases the risk of AHLH in patients with an underlying condition, especially those with an underlying infection. (Turk J Hematol 2011; 28: 125-30)en_US
dc.description.sponsorshipHacettepe University Research FundHacettepe University [0801101001]; TUBATurkish Academy of Sciencesen_US
dc.description.sponsorshipThis study was supported by the Hacettepe University Research Fund [A91V mutation (0801101001)] and TUBA [([A. Gurgey), (C. Altay), (TNF-alpha polymorphism)].en_US
dc.identifier.citationOkur, H., Ünal, Ş., Balta, G., Efendioğlu, D., Çimen, E., Çetin, M., Gürgey, A., Altay, Ç., & Gümrük, F. (2011). The frequency of A91V in the perforin gene and the effect of tumor necrosis factor-α promoter polymorphism on acquired hemophagocytic lymphohistiocytosis. Perforin geninde A91V frekansı ve tümör nekrozis-α faktör promotor polimorfizminin edinsel hemofagositik lenfohistiositoza etkisi. Turkish journal of haematology : official journal of Turkish Society of Haematology, 28(2), 125–130.en_US
dc.identifier.doi10.5152/tjh.2011.28
dc.identifier.endpage130en_US
dc.identifier.issn1300-7777
dc.identifier.issn1308-5263
dc.identifier.issue2en_US
dc.identifier.pmid27264126
dc.identifier.scopus2-s2.0-79958076662
dc.identifier.scopusqualityN/A
dc.identifier.startpage125en_US
dc.identifier.urihttps://doi.org/10.5152/tjh.2011.28
dc.identifier.urihttps://hdl.handle.net/20.500.12587/4991
dc.identifier.volume28en_US
dc.identifier.wosWOS:000291130100006
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherGalenos Yayinciliken_US
dc.relation.ispartofTurkish Journal Of Hematology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectAcquired hemophagocytic lymphohistiocytosisen_US
dc.subjectinfection-related HLHen_US
dc.subjectperforinen_US
dc.subjectA91V mutationen_US
dc.subjectTNF-alpha polymorphismen_US
dc.titleThe frequency of A91V in the perforin gene and the effect of tumor necrosis factor-alpha promoter polymorphism on acquired hemophagocytic lympholmstiocytosisen_US
dc.typeArticle

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