The study of CTLA-4 and vitamin D receptor polymorphisms in the Romanian type 1 diabetes population

  1. C. Guja1,*,
  2. S. Marshall2,
  3. K. Welsh2,
  4. M. Merriman3,
  5. A. Smith3,
  6. J. A. Todd3,
  7. C. Ionescu-Tîrgoviste1

Article first published online: 1 MAY 2007

DOI: 10.1111/j.1582-4934.2002.tb00312.x

Issue

Journal of Cellular and Molecular Medicine

Journal of Cellular and Molecular Medicine

Volume 6, Issue 1, pages 75–81, January 2002

Additional Information

How to Cite

Guja, C., Marshall, S., Welsh, K., Merriman, M., Smith, A., Todd, J. A. and Ionescu-Tîrgoviste, C. (2002), The study of CTLA-4 and vitamin D receptor polymorphisms in the Romanian type 1 diabetes population. Journal of Cellular and Molecular Medicine, 6: 75–81. doi: 10.1111/j.1582-4934.2002.tb00312.x

Author Information

  1. 1

    Clinic of Diabetes, “N. Paulescu” Institute of Diabetes, Nutrition and Metabolic Diseases, Bucharest, Romania

  2. 2

    Tissue Typing Laboratory, Oxford Transplant Centre, Oxford, UK

  3. 3

    Wellcome Trust Centre for Molecular Mechanisms in Disease, Cambridge, UK

* *Correspondence to: Dr. Cristian GUJA “N. Paulescu” Institute of Diabetes, Nutrition and Metabolic Diseases, 5-7 I. Movila Street, Bucharest 2, Romania. Tel.: 0040 1 210 64 60, Fax: 0040 1 210 22 95 E-mail: cristi_guja@fx.ro

Publication History

  1. Issue published online: 1 MAY 2007
  2. Article first published online: 1 MAY 2007
  3. Received: February 8, 2002; Accepted: February 22, 2002

SEARCH

SEARCH BY CITATION

ARTICLE TOOLS

Get PDF (173K)

Keywords:

  • type I diabetes;
  • genetic;
  • CTLA-4;
  • vitamin D receptor;
  • Romania

Abstract

Several studies suggested that part of the genetic susceptibility for Type 1 diabetes (TIDM) is encoded by some polymorphisms of CTLA-4 gene (2q33) and of Vitamin D Receptor gene (VDR; 12q12-14). Our aim was to assess their contribution to TIDM genetic susceptibility in the Romanian population. We typed CTLA-4 49 A/G and VDR FokI (F/f), ApaI (A/a) and TaqI (T/t) polymorphisms by Sequence Specific Primer PCR (SSP-PCR) in 204 Romanian diabetic families (756 individuals: 212 TIDM probands and 544 unaffected parents and siblings). We studied alleles transmission using the Transmission Disequilibrium Test (TDT). We found an increased transmission of CTLA-4 49G allele to diabetics (54.8%, p=0.11). The transmission of F (56.1%, p=0.063), a (55.7%, p=0.061) and T (51.8%, p=0.37) alleles of VDR gene to diabetics was increased but did not reach statistical significance. In conclusion we found the same increased transmission of CTLA-4 49 G allele to diabetics as previously reported. VDR FoqI F allele seems to be predisposing while TaqI T allele seems to be protective.

Get PDF (173K)