Endocrinol Metab.  2015 Dec;30(4):469-474. 10.3803/EnM.2015.30.4.469.

Association between Bsm1 Polymorphism in Vitamin D Receptor Gene and Diabetic Retinopathy of Type 2 Diabetes in Korean Population

Affiliations
  • 1Department of Internal Medicine, Chungbuk National University College of Medicine, Cheongju, Korea. endoann@naver.com

Abstract

BACKGROUND
Type 2 diabetes is one of the most common diseases with devastating complications. However, genetic susceptibility of diabetic complications has not been clarified. The vitamin D endocrine system is related with calcification and lipolysis, insulin secretion, and may be associated with many complicated disease including diabetes and cardiovascular disease. Recent studies reported that single nucleotide polymorphisms of vitamin D receptor (VDR) gene were associated with diabetic complications.
METHODS
In present study, we evaluated the association of BsmI polymorphism of VDR with diabetic complications in Korean diabetes patients. Total of 537 type 2 diabetic subjects from the Endocrinology Clinic of Chungbuk National University Hospital were investigated. Polymerase chain reaction-restriction fragment length polymorphism was used to test the genotype and allele frequency of BsmI (rs1544410; BB, Bb, bb) polymorphisms.
RESULTS
Mean age was 62.44+/-10.64 years and mean disease duration was 13.65+/-7.39 years. Patients with B allele (BB or Bb) was significantly associated with lower risk of diabetic retinopathy (severe non-proliferative diabetic retinopathy or proliferative retinopathy; 7.4%, 5/68) compared with patients without B allele (bb; 17.3%, 81/469; P=0.035). This association was also significant after adjusting for hemoglobin A1c level, body mass index, age, sex, and diabetes mellitus duration, concurrent dyslipidemia and hypertension (odds ratio, 2.99; 95% confidence interval, 1.08 to 8.29; P=0.035) in logistic regression analysis.
CONCLUSION
Our findings suggest that B allele of Bsm1 polymorphism in VDR gene is associated with lower risk of diabetic retinopathy in type 2 diabetic patients. Bsm1 genotype could be used as a susceptibility marker to predict the risk of diabetes complication.

Keyword

Diabetes mellitus, type 2; Diabetic retinopathy; Polymorphism, single nucleotide; Receptors, calcitriol

MeSH Terms

Alleles
Body Mass Index
Cardiovascular Diseases
Chungcheongbuk-do
Diabetes Complications
Diabetes Mellitus
Diabetes Mellitus, Type 2
Diabetic Retinopathy*
Dyslipidemias
Endocrine System
Endocrinology
Gene Frequency
Genetic Predisposition to Disease
Genotype
Humans
Hypertension
Insulin
Lipolysis
Logistic Models
Polymorphism, Single Nucleotide
Receptors, Calcitriol*
Vitamin D*
Vitamins*
Insulin
Receptors, Calcitriol
Vitamin D
Vitamins

Figure

  • Fig. 1 BsmI and ApaI sites.


Reference

1. Tamilselvan B, Seshadri KG, Venkatraman G. Role of vitamin D on the expression of glucose transporters in L6 myotubes. Indian J Endocrinol Metab. 2013; 17:Suppl 1. S326–S328.
2. Kahn BB. Facilitative glucose transporters: regulatory mechanisms and dysregulation in diabetes. J Clin Invest. 1992; 89:1367–1374.
3. Vaidya A, Williams JS. The relationship between vitamin D and the renin-angiotensin system in the pathophysiology of hypertension, kidney disease, and diabetes. Metabolism. 2012; 61:450–458.
4. Riek AE, Oh J, Sprague JE, Timpson A, de las Fuentes L, Bernal-Mizrachi L, et al. Vitamin D suppression of endoplasmic reticulum stress promotes an antiatherogenic monocyte/macrophage phenotype in type 2 diabetic patients. J Biol Chem. 2012; 287:38482–38494.
5. Cyganek K, Mirkiewicz-Sieradzka B, Malecki MT, Wolkow P, Skupien J, Bobrek J, et al. Clinical risk factors and the role of VDR gene polymorphisms in diabetic retinopathy in Polish type 2 diabetes patients. Acta Diabetol. 2006; 43:114–119.
6. Nosratabadi R, Arababadi MK, Salehabad VA, Shamsizadeh A, Mahmoodi M, Sayadi AR, et al. Polymorphisms within exon 9 but not intron 8 of the vitamin D receptor are associated with the nephropathic complication of type-2 diabetes. Int J Immunogenet. 2010; 37:493–497.
7. Velayoudom-Cephise FL, Larifla L, Donnet JP, Maimaitiming S, Deloumeaux J, Blanchet A, et al. Vitamin D deficiency, vitamin D receptor gene polymorphisms and cardiovascular risk factors in Caribbean patients with type 2 diabetes. Diabetes Metab. 2011; 37:540–545.
8. Zhang H, Wang J, Yi B, Zhao Y, Liu Y, Zhang K, et al. BsmI polymorphisms in vitamin D receptor gene are associated with diabetic nephropathy in type 2 diabetes in the Han Chinese population. Gene. 2012; 495:183–188.
9. Ferrarezi DA, Bellili-Munoz N, Dubois-Laforgue D, Cheurfa N, Lamri A, Reis AF, et al. Allelic variations of the vitamin D receptor (VDR) gene are associated with increased risk of coronary artery disease in type 2 diabetics: the DIABHYCAR prospective study. Diabetes Metab. 2013; 39:263–270.
10. Yokoyama K, Nakashima A, Urashima M, Suga H, Mimura T, Kimura Y, et al. Interactions between serum vitamin D levels and vitamin D receptor gene FokI polymorphisms for renal function in patients with type 2 diabetes. PLoS One. 2012; 7:e51171.
11. Bucan K, Ivanisevic M, Zemunik T, Boraska V, Skrabic V, Vatavuk Z, et al. Retinopathy and nephropathy in type 1 diabetic patients: association with polymorphysms of vitamin D-receptor, TNF, neuro-D and IL-1 receptor 1 genes. Coll Antropol. 2009; 33:Suppl 2. 99–105.
12. Capoluongo E, Pitocco D, Concolino P, Santonocito C, Di Stasio E, d'Onofrio G, et al. Slight association between type 1 diabetes and "ff" VDR FokI genotype in patients from the Italian Lazio Region. Lack of association with diabetes complications. Clin Biochem. 2006; 39:888–892.
13. Marco MP, Craver L, Betriu A, Fibla J, Fernandez E. Influence of vitamin D receptor gene polymorphisms on mortality risk in hemodialysis patients. Am J Kidney Dis. 2001; 38:965–974.
14. Gyorffy B, Vasarhelyi B, Krikovszky D, Madacsy L, Tordai A, Tulassay T, et al. Gender-specific association of vitamin D receptor polymorphism combinations with type 1 diabetes mellitus. Eur J Endocrinol. 2002; 147:803–808.
15. Tawfeek MA, Habib FA, Mouhamed Saultan EE. Vitamin D receptor Bsm1 gene polymorphisms and gestational diabetes mellitus: a Saudi study. Br J Med Med Res. 2011; 1:459–468.
Full Text Links
  • ENM
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr