Association of vitamin D level and vitamin D receptor A-1012G polymorphism with psoriasis – case control study

  • Pocut Astari Biomedical Science Master Program, Faculty of Medicine, Universitas Sumatera Utara, Medan, Indonesia
  • Yahwardiah Siregar Biochemistry Department, Faculty of Medicine, Universitas Sumatera Utara, Medan, Indonesia
  • Ariyati Yosi Dermatology and Venereology Department, Faculty of Medicine, Universitas Sumatera Utara, Medan, Indonesia
Keywords: Polymorphism, Psoriasis, Vitamin D, Vitamin D Receptor

Abstract

Background: Psoriasis is a chronic inflammation of the skin caused by combination of genetic, immune and environmental factors. The Vitamin D receptors alongside with plasma vitamin D (25(OH)D) level have known to be related with psoriasis. Vitamin D receptor polymorphism is one of the multiple polymorphisms that predispose individuals to several diseases. It is possible that this polymorphism is different among psoriatic patients and healthy one particularly in Medan, Indonesia population.  

Objective: We aimed to investigate associations between plasma level of 25(OH)D and one VDR gene polymorphism (A-1012G) with psoriasis.

Methods: Fourty four psoriatic patients and 44 healthy control subjects’ DNA samples were obtained in this case control study and genotyped for A-1012G polymorphism by Polymerase Chain Reaction (PCR). The plasma vitamin D (25(OH)D) level of case and control subjects were examined using Enzyme Linked Immunosorbent Assay (ELISA).

Results: Significant lower plasma 25(OH)D levels were found in control group (p<0.001) which consist of mostly young adult female. There is no significant relationship between AA, AG and GG genotype variances of A-1012G polymorphism with psoriasis (p=0.124).

Conclusion: No significant association found between A-1012G polymorphism and psoriasis but there was a significant difference found between vitamin D level and psoriasis (p<0.001).  From this study, vitamin D deficiency were more common in young adult female.

References

Krueger JG, Bowcock A. Psoriasis pathophysiology: current concepts of pathogenesis. Annals of the Rheumatic Diseases. 2005. 64:ii30-6. https://doi.org/10.1136/ard.2004.031120

World Health Organization [Internet].International Federation of Psoriasis Associations. World PsoriasisDay. [updated 2015; cited 2018 Jul 17]. Available from: https://ifpa-pso.com/our-actions/world-psoriasis-day.

VU AA, Thaha A, Devi M. Angka kejadian psoriasis vulgaris di poliklinik ilmu kesehatan kulit dan kelamin RSIP dr. Mohammad hoesin Palembang periode Agustus 2008 - Juni 2012. MKS. 2014; 4: 253-8.

Suhoyo WW. Karakteristik pasien psoriasis di SMF ilmu kesehatan kulit dan kelamin RSUP. H. Adam Malik Medan periode Januari 2010-Desember 2012 [Dissertation]. Medan: Universitas Sumatera Utara; 2014.

Harden JL, Krueger JG, Bowcock AM. The immunogenetics of psoriasis: a comprehensive review. J Autoimmun. 2015; 64: 66-73. https://doi.org/10.1016/j.jaut.2015.07.008

Sun LD, Cheng H, Wang ZX, Zhang AP, Wang PG, Xu JH, et al. Association analyses identify six new psoriasis susceptibility loci in the Chinese population. Nat Genet. 2010; 42: 1005-9. https://doi.org/10.1038/ng.690

Ellinghaus D, Ellinghaus E, Nair RP, Stuart PE, Esko T, Metspalu A, et al. Combined analysis of genome-wide association studies for Crohn disease and psoriasis identifies seven shared susceptibility loci. Am J Hum Genet. 2012; 90: 636-47. https://doi.org/10.1016/j.ajhg.2012.02.020

Veal CD, Capon F, Allen MH, Heath EK, Evans JC, Jones A, et al. Family-based analysis using a dense single-nucleotide polymorphism-based map defines genetic variation at PSORS1, the major psoriasis susceptibility locus. Am J Hum Genet. 2002; 71: 554-64. https://doi.org/10.1086/342289

Sun LD, Li W, Yang S, Fan X, Yan KL, Liang YH, et al. Evidence for a novel psoriasis susceptibility locus at 9q33-9q34 in Chinese Hans. J Invest Dermatol. 2007; 127: 1140-4. https://doi.org/10.1038/sj.jid.5700671

Halsall JA, Osborne JE, Potter L, Pringle JH, Hutchinson PE. A novel polymorphism in the 1A promoter region of the vitamin D receptor is associated with altered susceptibilty and prognosis in malignant melanoma. British Journal of Cancer. 2004; 91(4): 765-70. https://doi.org/10.1038/sj.bjc.6602006

Poon AH, Gong L, Brasch-Andersen C, Litonjua AA, Raby BA, Hamid Q, et al.Very important pharmacogene summary for VDR. Pharmacogenet Genomics. 2012; 22(10): 758-63. https://doi.org/10.1097/FPC.0b013e328354455c

Heine G, Hoefer N, Franke A, Nöthling U, Schumann RR, Hamann L, Worm M. Association of vitamin D receptor gene polymorphisms with severe atopic dermatitis in adults. The British Journal of Dermatology. 2013; 168(4): 855-8. https://doi.org/10.1111/bjd.12077

Lee YH, Choi SJ, Ji JD, Song GG. Vitamin D receptor ApaI, TaqI, BsmI, and FokI polymorphisms and psoriasis susceptibility: a meta-analysis. Mol Biol Rep. 2012; 39: 6471-8. https://doi.org/10.1007/s11033-012-1466-6

Bergler-Czop B, Brzezińska-Wcisło L. Serum vitamin D level - the effect on the clinical course of psoriasis. Advances in Dermatology and Allergology. 2016; 6: 445-9. https://doi.org/10.5114/ada.2016.63883

Atwa MA,Balata MG, Husein AM, Abdelrahman NI, Elminshawy HH. Serum 25-hydroxyvitamin D concentration in patients with psoriasis and rheumatoid arthritis and its association with disease activity and serum tumor necrosis factor-alpha. Saudi Med J. 2013; 34(8): 806-13.

Woo YR, Cho DH, Park HJ. Molecular mechanisms and management of a cutaneus inflammatory disorder: Psoriasis. Int J Mol Sci. 2017; 18(2): 2684. https://doi.org/10.3390/ijms18122684

Rahmayunita G, Jacoeb TNA, Novianto E, Indriatmi W, Rihatmadja R, Pusponegoro EHD. A double-blind randomized controlled trial of topical Curcuma xanthorrhiza Roxb. on mild psoriasis: clinical manifestations, histopathological features, and K6 expressions. Med J Indones. 2018; 27: 178-84. https://doi.org/10.13181/mji.v27i3.2511

Jehan F, d'Alesio A, Garabedian M. Exons and functional regions of the human vitamin D receptor gene around and within the main 1a promoter are well conserved among mammals. Journalof Steroid Biochemistry & Molecular Biology. 2007; 103: 361-7. https://doi.org/10.1016/j.jsbmb.2006.12.057

Halsall JA, Osborne JE, Pringle JH, Hutchinson PE. Vitamin D receptor gene polymorphisms, particularly the novel A-1012G promoter polymorphism, are associated with vitamin D3 responsiveness and non-familial susceptibility in psoriasis. Pharmacogenet Genomics. 2005; 15: 349-55. https://doi.org/10.1097/01213011-200505000-00011

Richetta AG, Silvestri V, Giancristoforo S, Rizzolo P, D'Epiro S, Graziano V, et al. A-1012G promoter polymorphism of vitamin D receptor gene is associated with psoriasis risk and lower allele-specific expression. DNA and Cell Biology. 2014; 33(2): 102-9. https://doi.org/10.1089/dna.2013.2217

Lufiana F, Siregar Y, Yosi A. Kadar vitamin D dalam plasma darah pada pasien psoriasis di kota Medan. Jurnal Keperawatan dan Fisioterapi (JKF). 2019; 2(1): 6-11. https://doi.org/10.35451/jkf.v2i1.182

Mazlin MB, Chang CC, Baba R. Comorbidities associated with psoriasis - data from the Malaysian psoriasis registry. The Medical Journal of Malaysia. 2012; 67(5): 518-21.

Barrea L, Savanelli MC, Somma CD, Napolitano M, Megna M, Colao A, et al. Vitamin D and its role in psoriasis: An overview of the dermatologist and nutritionist. Rev Endocr Metab Disord. 2017; 18: 1-12. https://doi.org/10.1007/s11154-017-9411-6

Filoni A, Vestita M, Congedo M, Giudice G, Tafuri S, Bonamonte D. Association between psoriasis and vitamin D: Duration of disease correlates with decreased vitamin D serum levels: An observational case-control study. Medicine. 2018; 97(25): e11185. https://doi.org/10.1097/MD.0000000000011185

Holick MF, Chen TC. Vitamin D deficiency: a worldwide problem with health consequences. The American Journal of Clinical Nutrition. 2008; 87(4): 1080S-6S. https://doi.org/10.1093/ajcn/87.4.1080S

Choi HS, Oh HJ, Choi H, Choi WH, Kim JG, Kim KM, et al. Vitamin D insufficiency in Korea-a greater threat to younger generation: the Korea National Health and Nutrition Examination Survey (KNHANES) 2008. J Clin Endocrinol Metab. 2011; 96:643-51. https://doi.org/10.1210/jc.2010-2133

Chailurkit LO, Aekplakorn W, Ongphiphadhanakul B. Regional variation and determinants of vitamin D status in sunshine-abundant Thailand. BMC Public Health. 2011; 11:853. https://doi.org/10.1186/1471-2458-11-853

Nimitphong H & Holick M F. Vitamin D status and sun exposure in southeast Asia. Dermato-Endocrinology. 2013; 5(1): 34-7. https://doi.org/10.4161/derm.24054

BoehnckeW-H,Schön MP. Psoriasis. Lancet. 2015; 386(9997): 983-94. https://doi.org/10.1016/S0140-6736(14)61909-7

de Abreu DF, Babron IMC, Rebeix C, Fontenille J, Yaouanq D, Brassat B, et al. Season of birth and not vitamin D receptor promoter polymorphisms is a risk factor for multiple sclerosis. Multiple Sclerosis Journal. 2009; 15(10): 1146-52. https://doi.org/10.1177/1352458509106780

Lin MW, Tsai SJ, Chou PY, Huang MF, Sun HS, Wu MH. Vitamin D receptor 1a promotor 1521 G/C and 1012 A/G polymorphisms in polycystic ovary syndrome. TJOG. 2012; 51: 565-71. https://doi.org/10.1016/j.tjog.2012.09.011

Amadori D, Serra P, Masalu N, Pangan A, Scarpi E, Bugingo AM, et al. Vitamin D receptor polymorphisms or serum levels as key drivers of breast cancer development? The question of the vitamin D pathway. Oncotarget. 2017; 8(8): 13142-56. https://doi.org/10.18632/oncotarget.14482

Schug J,Overton GC. Modeling transcription factor binding sites with Gibbs sampling and minimum description length encoding. Proc In tConf Intell Syst Mol Biol. 1997; 5: 268-71.

Merika M, Orkin SH. DNA-binding specificity of GATA family transcription factors. Mol Cell Biol. 1993; 13: 3999-4010. https://doi.org/10.1128/MCB.13.7.3999

Rengarajan J, Szabo SJ, Glimcher LH. Transcriptional regulation of Th1/Th2 polarization. Immunol Today. 2000; 21: 479-83. https://doi.org/10.1016/S0167-5699(00)01712-6

Hansen L, Tjønneland A, Køster B, Brot C, Andersen R, Cohen AS, et al. Vitamin D status and seasonal variation among Danish children and adults: a descriptive study. Nutrients. 2018; 10: 1801. https://doi.org/10.3390/nu10111801

Published
2020-06-30
How to Cite
Astari, P., Siregar, Y., & Yosi, A. (2020). Association of vitamin D level and vitamin D receptor A-1012G polymorphism with psoriasis – case control study. Acta Biochimica Indonesiana, 3(1), 4-13. https://doi.org/10.32889/actabioina.v3i1.47