Association Between Vitamin D Receptor Polymorphism and Familial Mediterranean Fever Disease in Turkish Children

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• 作者：S. Kizildag ; F. Dedemoglu ; A. Anik ; G. Catli ; S. Kizildag ; A. Abaci…
• 关键词：Familial Mediterranean fever ; Vitamin D receptor ; VDR polymorphisms
• 刊名：Biochemical Genetics
• 出版年：2016
• 出版时间：April 2016
• 年：2016
• 卷：54
• 期：2
• 页码：169-176
• 全文大小：349 KB
• 参考文献：Arai H, Miyamoto K, Taketani Y, Yamamoto H, Iemori Y, Morita K, Tonai T, Nishisho T, Mori S, Takeda E (1997) A vitamin D receptor gene polymorphism in the translation initiation codon: effect on protein activity and relation to bone mineral density in Japanese women. J Bone Miner Res 6:915–921. doi:10.​1359/​jbmr.​1997.​12.​6.​915 CrossRef
  Ben-Zvi I, Livneh A (2011) Chronic inflammation in FMF: markers, risk factors, outcomes and therapy. Nat Rev Rheumatol 7:105–112. doi:10.​1038/​nrrheum.​2010.​181 CrossRef PubMed
  Cippitelli M, Santoni A (1998) Vitamin D3: a transcriptional modulator of the interferon-gamma gene. Eur J Immunol 28:3017–3030CrossRef PubMed
  Cutolo M (2008) Vitamin D or hormone D deficiency in autoimmune rheumatic diseases, including undifferentiated connective tissue disease. Arthritis Res Ther 6:123. doi:10.​1186/​ar2552 CrossRef
  Cutolo M, Otsa K (2008) Review: vitamin D, immunity and lupus. Lupus 1:6–10CrossRef
  Denzer N, Vogt T, Reichrath J (2011) Vitamin D receptor (VDR) polymorphisms and skin cancer: a systematic review. Dermatoendocrinol 3:205–210CrossRef PubMed PubMedCentral
  Dinarello CA (2009) Interleukin-1beta and the autoinflammatory diseases. N Engl J Med 360:2467–2470. doi:10.​1056/​NEJMe0811014 CrossRef PubMed
  Karray EF, Ben Dhifallah I, Ben Abdelghani K, Ben Ghorbel I, Khanfir M, Houman H, Hamzaoui K, Zakraoui L (2012) Associations of vitamin D receptor gene polymorphisms FokI and BsmI with susceptibility to rheumatoid arthritis and Behcet’s disease in Tunisians. Joint Bone Spine 79:144–148CrossRef PubMed
  Kizildag S, Gulsu E, Bagci O, Yuksel E, Canda T (2011) Vitamin D receptor gene polymorphisms and male breast cancer risk in Turkish population. J BUON 4:640–645
  Lee YH, Choi SJ, Ji JD, Song GG (2012) Vitamin D receptor ApaI, TaqI, BsmI, and FokI polymorphisms and psoriasis susceptibility: a meta-analysis. Mol Biol Rep 39:6471–6478CrossRef PubMed
  Leventis P, Patel S (2008) Clinical aspects of vitamin D in the management of rheumatoid arthritis. Rheumatology 11:1617–1621. doi:10.​1093/​rheumatology/​ken296 CrossRef
  Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T, Migdal A, Padeh S, Pras M (1997) Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 40:1879–1885CrossRef PubMed
  Luo XY, Yang MH, Wu FX, Wu LJ, Chen L, Tang Z, Liu NT, Zeng XF, Guan JL, Yuan GH (2012) Vitamin D receptor gene BsmI polymorphism B allele, but not BB genotype, is associated with systemic lupus erythematosus in a Han Chinese population. Lupus 21:53–59CrossRef PubMed
  McCullough ML, Bostick RM, Mayo TL (2009) Vitamin D gene pathway polymorphisms and risk of colorectal, breast, and prostate cancer. Annu Rev Nutr 29:111–132CrossRef PubMed
  Mora JR, Iwata M, von Andrian UH (2008) Vitamin effects on the immune system: vitamins A and D take centre stage. Nat Rev Immunol 8:685–698. doi:10.​1038/​nri2378 CrossRef PubMed PubMedCentral
  Pani MA, Seissler J, Usadel KH, Badenhoop K (2002) Vitamin D receptor genotype is associated with Addison’s disease. Eur J Endocrinol 147:635–640CrossRef PubMed
  Panierakis C, Goulielmos G, Mamoulakis D, Petraki E, Papavasiliou E, Galanakis E (2009) Vitamin D receptor gene polymorphisms and susceptibility to type 1 diabetes in Crete, Greece. Clin Immunol 133:276–281CrossRef PubMed
  Ramos-Lopez E, Kurylowicz A, Bednarczuk T, Paunkovic J, Seidl C, Badenhoop K (2005) Vitamin D receptor polymorphisms are associated with Graves’ disease in German and Polish but not in Serbian patients. Thyroid 15:1125–1130CrossRef PubMed
  Samuels J, Aksentijevich I, Torosyan Y, Centola M, Deng Z, Sood R, Kastner DL (1998) Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health. Medicine 77:268–297CrossRef PubMed
  Sohar E, Gafni J, Pras M, Heller H (1967) Familial Mediterranean fever. A survey of 470 cases and review of the literature. Am J Med 43:227–253CrossRef PubMed
  Tajouri L, Ovcaric M, Curtain R, Johnson MP, Griffiths LR, Csurhes P, Pender MP, Lea RA (2005) Variation in the vitamin D receptor gene is associated with multiple sclerosis in an Australian population. J Neurogenet 19:25–38CrossRef PubMed
  The International FMF Consortium (1997) Ancient missense mutations in a new member of the RoRet gene family are likely the cause familial Mediterranean fever. Cell 90:797–807. doi:10.​1016/​S0092-8674(00)80539-5 CrossRef
  Uitterlinden AG, Fang Y, Van Meurs JB, Pols HA, Van Leeuwen JP (2004) Genetics and biology of vitamin D receptor polymorphisms. Gene 2:143–156CrossRef
  Valdivielso JM, Fernandez E (2006) Vitamin D receptor polymorphisms and diseases. Clin Chim Acta 371:1–12. doi:10.​1016/​j.​cca.​2006.​02.​016 CrossRef PubMed
  Van Etten E, Verlinden L, Giulietti A, Ramos-Lopez E, Branisteanu DD, Ferreira GB, Overbergh L, Verstuyf A, Bouillon R, Roep BO, Badenhoop K, Mathieu C (2007) The vitamin D receptor gene FokI polymorphism: functional impact on the immune system. Eur J Immunol 37:395–405CrossRef PubMed
  Vuolo L, Di Somma C, Faggiano A, Colao A (2012) Vitamin D and cancer. Front Endocrinol 58:1–13. doi:10.​3389/​fendo.​2012.​00058
  Whitfield GK, Remus LS, Jurutka PW, Zitzer H, Oza AK, Dang HT, Haussler CA, Galligan MA, Thatcher ML, Encinas Dominguez C, Haussler MR (2001) Functionally relevant polymorphisms in the human nuclear vitamin D receptor gene. Mol Cell Endocrinol 1–2:145–159. doi:10.​1016/​S0303-7207(01)00406-3 CrossRef
  
• 作者单位：S. Kizildag (1)
  F. Dedemoglu (1)
  A. Anik (3)
  G. Catli (3)
  S. Kizildag (2)
  A. Abaci (3)
  B. Makay (4)
  E. Bober (3)
  E. Unsal (4)
  
  1. Department of Medical Biology, Faculty of Medicine, Dokuz Eylül University, 35340, Balcova, Izmir, Turkey
  3. Division of Endocrinology, Department of Pediatrics, Dokuz Eylül University Hospital, 35340, Balcova, Izmir, Turkey
  2. Vocational School of Health Sciences, Dokuz Eylül University, 35340, Balcova, Izmir, Turkey
  4. Division of Rheumatology, Department of Pediatrics, Dokuz Eylül University Hospital, 35340, Balcova, Izmir, Turkey
  
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Biomedicine
  Human Genetics
  Biochemistry
  Zoology
  Medical Microbiology
  
• 出版者：Springer Netherlands
• ISSN：1573-4927

文摘

Familial Mediterranean fever (FMF) is an autosomal recessive, inherited autoinflammatory disease characterized by recurrent, self-limited attacks of fever, and inflammation of serosal surfaces. The aim of our study was to determine a possible relationship between Vitamin D receptor (VDR) gene polymorphisms and the risk of children with FMF. We investigated VDR FokI (rs10735810), TaqI (rs731236), BsmI (rs1544410), and ApaI (rs7975232) polymorphisms in 50 children with FMF and 150 age-matched healthy control subjects. This study was performed by polymerase chain reaction-based restriction fragment length polymorphism. There was no significant difference between patients and controls for VDR FokI, TaqI, BsmI, and ApaI genotypes and alleles (p > 0.05). Results need to be supported by further investigations that define haplotype patterns for VDR gene polymorphisms in a larger group and different ethnic groups of FMF patients.