The frequency of A91V in the perforin gene and the effect of tumor necrosis factor-α promoter polymorphism on acquired hemophagocytic lymphohistiocytosis
Objective: 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 addit...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Publishing House
2011-06-01
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| Series: | Turkish Journal of Hematology |
| Subjects: | |
| Online Access: | http://www.journalagent.com/z4/download_fulltext.asp?pdir=tjh&plng=eng&un=TJH-60252 |
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| author | Hamza Okur Şule Ünal Günay Balta Didem Efendioğlu Eren Çimen Mualla Çetin Aytemiz Gürgey Çiğdem Altay Fatma Gümrük |
| author_facet | Hamza Okur Şule Ünal Günay Balta Didem Efendioğlu Eren Çimen Mualla Çetin Aytemiz Gürgey Çiğdem Altay Fatma Gümrük |
| author_sort | Hamza Okur |
| collection | DOAJ |
| description | Objective: 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-α 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-α-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. |
| first_indexed | 2024-04-10T11:56:37Z |
| format | Article |
| id | doaj.art-099f4c629f4147e6a922f432e5f76b9f |
| institution | Directory Open Access Journal |
| issn | 1300-7777 1308-5263 |
| language | English |
| last_indexed | 2024-04-10T11:56:37Z |
| publishDate | 2011-06-01 |
| publisher | Galenos Publishing House |
| record_format | Article |
| series | Turkish Journal of Hematology |
| spelling | doaj.art-099f4c629f4147e6a922f432e5f76b9f2023-02-15T16:16:47ZengGalenos Publishing HouseTurkish Journal of Hematology1300-77771308-52632011-06-012802125130The frequency of A91V in the perforin gene and the effect of tumor necrosis factor-α promoter polymorphism on acquired hemophagocytic lymphohistiocytosisHamza OkurŞule ÜnalGünay BaltaDidem EfendioğluEren ÇimenMualla ÇetinAytemiz GürgeyÇiğdem AltayFatma GümrükObjective: 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-α 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-α-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.http://www.journalagent.com/z4/download_fulltext.asp?pdir=tjh&plng=eng&un=TJH-60252Acquired hemophagocytic lymphohistiocytosisinfection-related HLHperforinA91V mutationTNF-α polymorphism |
| spellingShingle | Hamza Okur Şule Ünal Günay Balta Didem Efendioğlu Eren Çimen Mualla Çetin Aytemiz Gürgey Çiğdem Altay Fatma Gümrük The frequency of A91V in the perforin gene and the effect of tumor necrosis factor-α promoter polymorphism on acquired hemophagocytic lymphohistiocytosis Turkish Journal of Hematology Acquired hemophagocytic lymphohistiocytosis infection-related HLH perforin A91V mutation TNF-α polymorphism |
| title | The frequency of A91V in the perforin gene and the effect of tumor necrosis factor-α promoter polymorphism on acquired hemophagocytic lymphohistiocytosis |
| title_full | The frequency of A91V in the perforin gene and the effect of tumor necrosis factor-α promoter polymorphism on acquired hemophagocytic lymphohistiocytosis |
| title_fullStr | The frequency of A91V in the perforin gene and the effect of tumor necrosis factor-α promoter polymorphism on acquired hemophagocytic lymphohistiocytosis |
| title_full_unstemmed | The frequency of A91V in the perforin gene and the effect of tumor necrosis factor-α promoter polymorphism on acquired hemophagocytic lymphohistiocytosis |
| title_short | The frequency of A91V in the perforin gene and the effect of tumor necrosis factor-α promoter polymorphism on acquired hemophagocytic lymphohistiocytosis |
| title_sort | frequency of a91v in the perforin gene and the effect of tumor necrosis factor α promoter polymorphism on acquired hemophagocytic lymphohistiocytosis |
| topic | Acquired hemophagocytic lymphohistiocytosis infection-related HLH perforin A91V mutation TNF-α polymorphism |
| url | http://www.journalagent.com/z4/download_fulltext.asp?pdir=tjh&plng=eng&un=TJH-60252 |
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