Research Article
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Year 2022, Volume: 8 Issue: 6, 821 - 827, 04.11.2022
https://doi.org/10.18621/eurj.1027730

Abstract

Supporting Institution

Ondokuz Mayıs University

Project Number

PYO.TIP.1904.12.002

References

  • 1. Rubartelli A. Autoinflammatory diseases. Immunol Lett 2014;161:226-30.
  • 2. Ben-Chetrit E, Levy M. Familial mediterranean fever. Lancet 1998;351:659-64.
  • 3. Samuels J, Ozen S. Familial Mediterranean fever and the other autoinflammatory syndromes: evaluation of the patient with recurrent fever. Curr Opin Rheumatol 2006;18:108-17.
  • 4. Shohat M, Halpern GJ. Familial Mediterranean fever - a review. Genet Med 2011;13:487-98.
  • 5. Campbell L, Raheem I, Malemud CJ, Askari AD. The relationship between NALP3 and autoinflammatory syndromes. Int J Mol Sci 2016;17:725.
  • 6. Sohar, Gafni J, Pras M, Heller H. Familial Mediterranean fever: a survey of 470 cases and review of the literature. Am J Med 1967;43:227-53.
  • 7. Group TFS. Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine 2005;84:1-11.
  • 8. Ben-Chetrit E, Touitou I. Familial Mediterranean fever in the world. Arthrit Care Res 2009;61:1447-53.
  • 9. Gunesacar R, Celik MM, Arica V, Elmacioğlu S, Ozturk OH. Frequency of MEFV gene mutations in Hatay province, Mediterranean region of Turkey and report of a novel missense mutation (I247V). Gene 2014;546:195-9.
  • 10. Alghamdi M. Familial Mediterranean fever, review of the literature. Clin Rheumatol 2017;36:1707-13.
  • 11. French F. Consorcium. A candidate gene for Familial Mediterranean Fever. J Nat Genet 1997;17:25-31.
  • 12. Consortium IF. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 1997;90:797-807.
  • 13. Grandemange S, Aksentijevich I, Jeru I, Gul A, Touitou I. The regulation of MEFV expression and its role in health and familial Mediterranean fever. Genes Immunity 2011;12:497-503.
  • 14. Terzi M, Taskın E, Unal Akdemir N, Bagcı H, Onar M. The relationship between familial Mediterranean fever gene (MEFV) mutations and clinical and radiologic parameters in multiple sclerosis patients. Int J Neurosci 2015;125:116-22.
  • 15. Duffy AM, Bouchier-Hayes DJ, Harmey JH. Vascular endothelial growth factor (VEGF) and its role in non-endothelial cells: autocrine signalling by VEGF. Madame Curie Bioscience Database [Internet]. Austin (TX): Landes Bioscience; 2000-2013.
  • 16. Rueda B, González-Gay MA, López-Nevot MA, García A, Fernández-Arquero M, Balsa A, et al. Analysis of vascular endothelial growth factor (VEGF) functional variants in rheumatoid arthritis. Hum Immunol 2005;66:864-8.
  • 17. Colville-Nash P, Scott D. Angiogenesis and rheumatoid arthritis: pathogenic and therapeutic implications. Anne Rheum Dis 1992;51:919-25.
  • 18. Paleolog EM. Angiogenesis in rheumatoid arthritis. Arthritis Res Ther 2002;4:1-10.
  • 19. Gunesacar R, Erken E, Özer HTE, Bozkurt B, Dinkci S, Deveci D. Analysis of vascular endothelial growth factor gene 936 C/T polymorphism in patients with familial Mediterranean fever. Int J Immunogenet 2008;35:33-6.
  • 20. Han SW, Kim GW, Seo JS, Kim SJ, Sa KH, Park JY, et al. VEGF gene polymorphisms and susceptibility to rheumatoid arthritis. Rheumatology 2004;43:1173-7.
  • 21. Salvarani C, Boiardi L, Casali B, Olivieri I, Cantini F, Salvi F, et al. Vascular endothelial growth factor gene polymorphisms in Behcet's disease. J Rheumatol 2004;31:1785-9.
  • 22. Seo J, Lee S-S, Kim SI, Ryu WH, Sa KH, Kim SU, et al., Influence of VEGF gene polymorphisms on the severity of ankylosing spondylitis. Rheumatology 2005;44:1299-302.
  • 23. Schneider BP, Radovich M, Miller KD. The role of vascular endothelial growth factor genetic variability in cancer. Clin Cancer Res 2009;15:5297-302.
  • 24. Nam EJ, Han SW, Kim SU, Cho JH, Sa KH, Lee WK, et al. Association of vascular endothelial growth factor gene polymorphisms with Behcet disease in a Korean population. Hum Immunol 2005;66:1068-73.
  • 25. Vincenti V, Cassano C, Rocchi M, Persico G. Assignment of the vascular endothelial growth factor gene to human chromosome 6p21. 3. Circulation 1996;93:1493-5.
  • 26. Ferrara N, Davis-Smyth T. The biology of vascular endothelial growth factor. Endocr Rev 1997;18:4-25.
  • 27. Renner W, Kotschan S, Hoffmann C, Obermayer-Pietsch B, Pilger E. A common 936 C/T mutation in the gene for vascular endothelial growth factor is associated with vascular endothelial growth factor plasma levels. J Vasc Res 2000;37:443-8.
  • 28. Cheng C-Y, Chang C-S, Liu C-J, Kao S-Y. Vascular endothelial growth factor 936 C/T polymorphism is associated with vascular invasion in oral squamous cell carcinoma. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2008;106:79-84.
  • 29. Zhang Y, Qiu H, Zhang H, Wang L, Zhuang C, Liu R. Vascular endothelial growth factor A (VEGFA) polymorphisms in Chinese patients with rheumatoid arthritis. Scand J Rheumatol 2013;42:344-8.
  • 30. Lee YH, Bae S-C. Correlation between circulating VEGF levels and disease activity in rheumatoid arthritis: a meta-analysis. Z Rheumatol 2018;77:240-8.
  • 31. Paradowska-Gorycka A, Pawlik A, Romanowska-Prochnicka K, Haladyj E, Malinowski D, Stypinska B, et al. Relationship between VEGF gene polymorphisms and serum VEGF protein levels in patients with rheumatoid arthritis. PloS One 2016;11:e0160769.
  • 32. Wang M, Zhou X, Zhang H, Liu R, Xu N. Associations of the VEGF level, VEGF rs2010963 G/C gene polymorphism and ankylosing spondylitis risk in a Chinese Han population. Immunol Lett 2016;179:56-60.
  • 33. Shevchenko A, Prokofyev VF, Korolev MA, Banshchikova NE, Konenkov VI. [Polymorphism in the regulatory regions–С2578A and+ C936T of the vascular endothelial growth factor (VEGF-A) gene in Russian women with rheumatoid arthritis]. Ter Arkh 2017;89:60-4. [Article in Russian]
  • 34. Federici S, Caorsi R, Gattorno M. The autoinflammatory diseases. Swiss Med Wkly 2012;142:w2526.
  • 35. Uluca Ü, Ece A, Şen V, Coşkun S, Güneş A, Yel S, et al. High frequency of E148Q sequence variation in children with familial Mediterranean fever in southeast Turkey. Arch Argent Pediatr 2015;113:133-9.

Investigation of the effect of vascular endothelial growth factor gene 936 C/T polymorphism in familial Mediterranean fever patients

Year 2022, Volume: 8 Issue: 6, 821 - 827, 04.11.2022
https://doi.org/10.18621/eurj.1027730

Abstract

Objectives: This study aims to investigate the effect of vascular endothelial growth factor (VEGF) gene 936C/T polymorphism (rs3025039) on the appearance of phenotypic characteristics of familial Mediterranean fever (FMF) patients that differ with respect to MEditerranean FeVer (MEFV) gene mutations. Here, we investigated a single functional polymorphism in the VEGF gene.


Methods:
The study group consisted of 223 FMF patients with definite diagnosis according to Tel-Hashomer criteria who carried MEFV gene mutations, while 208 FMF patients with definite diagnosis of FMF but without any mutations, making up the control group, were included in the study. The VEGF gene 936C/T polymorphism was genotyped using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique.


Results:
Genotype and allele frequencies of the VEGF rs3025039 polymorphism between the two groups were significantly different (p = 0.03 and p = 0.011, respectively). The TT genotype was found to be more frequent in the study group than in controls (4.9% vs. 3.3%, respectively).


Conclusions:
Our results seem to indicate that the VEGF 936C/T polymorphism affects the appearance of the phenotypic characteristics of FMF. It is possible that other variants of this gene may also have similar effects.

Project Number

PYO.TIP.1904.12.002

References

  • 1. Rubartelli A. Autoinflammatory diseases. Immunol Lett 2014;161:226-30.
  • 2. Ben-Chetrit E, Levy M. Familial mediterranean fever. Lancet 1998;351:659-64.
  • 3. Samuels J, Ozen S. Familial Mediterranean fever and the other autoinflammatory syndromes: evaluation of the patient with recurrent fever. Curr Opin Rheumatol 2006;18:108-17.
  • 4. Shohat M, Halpern GJ. Familial Mediterranean fever - a review. Genet Med 2011;13:487-98.
  • 5. Campbell L, Raheem I, Malemud CJ, Askari AD. The relationship between NALP3 and autoinflammatory syndromes. Int J Mol Sci 2016;17:725.
  • 6. Sohar, Gafni J, Pras M, Heller H. Familial Mediterranean fever: a survey of 470 cases and review of the literature. Am J Med 1967;43:227-53.
  • 7. Group TFS. Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine 2005;84:1-11.
  • 8. Ben-Chetrit E, Touitou I. Familial Mediterranean fever in the world. Arthrit Care Res 2009;61:1447-53.
  • 9. Gunesacar R, Celik MM, Arica V, Elmacioğlu S, Ozturk OH. Frequency of MEFV gene mutations in Hatay province, Mediterranean region of Turkey and report of a novel missense mutation (I247V). Gene 2014;546:195-9.
  • 10. Alghamdi M. Familial Mediterranean fever, review of the literature. Clin Rheumatol 2017;36:1707-13.
  • 11. French F. Consorcium. A candidate gene for Familial Mediterranean Fever. J Nat Genet 1997;17:25-31.
  • 12. Consortium IF. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 1997;90:797-807.
  • 13. Grandemange S, Aksentijevich I, Jeru I, Gul A, Touitou I. The regulation of MEFV expression and its role in health and familial Mediterranean fever. Genes Immunity 2011;12:497-503.
  • 14. Terzi M, Taskın E, Unal Akdemir N, Bagcı H, Onar M. The relationship between familial Mediterranean fever gene (MEFV) mutations and clinical and radiologic parameters in multiple sclerosis patients. Int J Neurosci 2015;125:116-22.
  • 15. Duffy AM, Bouchier-Hayes DJ, Harmey JH. Vascular endothelial growth factor (VEGF) and its role in non-endothelial cells: autocrine signalling by VEGF. Madame Curie Bioscience Database [Internet]. Austin (TX): Landes Bioscience; 2000-2013.
  • 16. Rueda B, González-Gay MA, López-Nevot MA, García A, Fernández-Arquero M, Balsa A, et al. Analysis of vascular endothelial growth factor (VEGF) functional variants in rheumatoid arthritis. Hum Immunol 2005;66:864-8.
  • 17. Colville-Nash P, Scott D. Angiogenesis and rheumatoid arthritis: pathogenic and therapeutic implications. Anne Rheum Dis 1992;51:919-25.
  • 18. Paleolog EM. Angiogenesis in rheumatoid arthritis. Arthritis Res Ther 2002;4:1-10.
  • 19. Gunesacar R, Erken E, Özer HTE, Bozkurt B, Dinkci S, Deveci D. Analysis of vascular endothelial growth factor gene 936 C/T polymorphism in patients with familial Mediterranean fever. Int J Immunogenet 2008;35:33-6.
  • 20. Han SW, Kim GW, Seo JS, Kim SJ, Sa KH, Park JY, et al. VEGF gene polymorphisms and susceptibility to rheumatoid arthritis. Rheumatology 2004;43:1173-7.
  • 21. Salvarani C, Boiardi L, Casali B, Olivieri I, Cantini F, Salvi F, et al. Vascular endothelial growth factor gene polymorphisms in Behcet's disease. J Rheumatol 2004;31:1785-9.
  • 22. Seo J, Lee S-S, Kim SI, Ryu WH, Sa KH, Kim SU, et al., Influence of VEGF gene polymorphisms on the severity of ankylosing spondylitis. Rheumatology 2005;44:1299-302.
  • 23. Schneider BP, Radovich M, Miller KD. The role of vascular endothelial growth factor genetic variability in cancer. Clin Cancer Res 2009;15:5297-302.
  • 24. Nam EJ, Han SW, Kim SU, Cho JH, Sa KH, Lee WK, et al. Association of vascular endothelial growth factor gene polymorphisms with Behcet disease in a Korean population. Hum Immunol 2005;66:1068-73.
  • 25. Vincenti V, Cassano C, Rocchi M, Persico G. Assignment of the vascular endothelial growth factor gene to human chromosome 6p21. 3. Circulation 1996;93:1493-5.
  • 26. Ferrara N, Davis-Smyth T. The biology of vascular endothelial growth factor. Endocr Rev 1997;18:4-25.
  • 27. Renner W, Kotschan S, Hoffmann C, Obermayer-Pietsch B, Pilger E. A common 936 C/T mutation in the gene for vascular endothelial growth factor is associated with vascular endothelial growth factor plasma levels. J Vasc Res 2000;37:443-8.
  • 28. Cheng C-Y, Chang C-S, Liu C-J, Kao S-Y. Vascular endothelial growth factor 936 C/T polymorphism is associated with vascular invasion in oral squamous cell carcinoma. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2008;106:79-84.
  • 29. Zhang Y, Qiu H, Zhang H, Wang L, Zhuang C, Liu R. Vascular endothelial growth factor A (VEGFA) polymorphisms in Chinese patients with rheumatoid arthritis. Scand J Rheumatol 2013;42:344-8.
  • 30. Lee YH, Bae S-C. Correlation between circulating VEGF levels and disease activity in rheumatoid arthritis: a meta-analysis. Z Rheumatol 2018;77:240-8.
  • 31. Paradowska-Gorycka A, Pawlik A, Romanowska-Prochnicka K, Haladyj E, Malinowski D, Stypinska B, et al. Relationship between VEGF gene polymorphisms and serum VEGF protein levels in patients with rheumatoid arthritis. PloS One 2016;11:e0160769.
  • 32. Wang M, Zhou X, Zhang H, Liu R, Xu N. Associations of the VEGF level, VEGF rs2010963 G/C gene polymorphism and ankylosing spondylitis risk in a Chinese Han population. Immunol Lett 2016;179:56-60.
  • 33. Shevchenko A, Prokofyev VF, Korolev MA, Banshchikova NE, Konenkov VI. [Polymorphism in the regulatory regions–С2578A and+ C936T of the vascular endothelial growth factor (VEGF-A) gene in Russian women with rheumatoid arthritis]. Ter Arkh 2017;89:60-4. [Article in Russian]
  • 34. Federici S, Caorsi R, Gattorno M. The autoinflammatory diseases. Swiss Med Wkly 2012;142:w2526.
  • 35. Uluca Ü, Ece A, Şen V, Coşkun S, Güneş A, Yel S, et al. High frequency of E148Q sequence variation in children with familial Mediterranean fever in southeast Turkey. Arch Argent Pediatr 2015;113:133-9.
There are 35 citations in total.

Details

Primary Language English
Subjects Biochemistry and Cell Biology (Other), Clinical Sciences
Journal Section Original Articles
Authors

Melek Yüce 0000-0002-3791-838X

Hasan Bağcı 0000-0002-6216-9835

Project Number PYO.TIP.1904.12.002
Publication Date November 4, 2022
Submission Date November 25, 2021
Acceptance Date April 28, 2022
Published in Issue Year 2022 Volume: 8 Issue: 6

Cite

AMA Yüce M, Bağcı H. Investigation of the effect of vascular endothelial growth factor gene 936 C/T polymorphism in familial Mediterranean fever patients. Eur Res J. November 2022;8(6):821-827. doi:10.18621/eurj.1027730

e-ISSN: 2149-3189 


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