Open AccessThe study of CTLA‐4 and vitamin D receptor polymorphisms in the Romanian type 1 diabetes population
Author(s) -
Guja C.,
Marshall S.,
Welsh K.,
Merriman M.,
Smith A.,
Todd J. A.,
IonescuTîrgoviste C.
Publication year - 2002
Publication title -
journal of cellular and molecular medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.44
H-Index - 130
eISSN - 1582-4934
pISSN - 1582-1838
DOI - 10.1111/j.1582-4934.2002.tb00312.x
Subject(s) - taqi , calcitriol receptor , allele , foki , genetics , biology , population , vitamin d and neurology , genotype , transmission disequilibrium test , polymorphism (computer science) , gene , endocrinology , medicine , haplotype , environmental health
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 Fok I (F/f), Apa I (A/a) and Taq I (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 Foq I F allele seems to be predisposing while Taq I T allele seems to be protective.