Frequency of CTLA‐4 Gene CT60 Polymorphism May Not Be Affected by Vitamin D Receptor Gene Bsm I Polymorphism or HLA DR9 in Autoimmune‐Related Type 1 Diabetes in the Japanese

Abstract

One of the CTLA-4 SNPs, +6230G>A (CT60), has recently been reported to be related to susceptibility to type 1 diabetes and autoimmune thyroid disease. We have previously reported an association between acute-onset type 1 diabetes in Japanese and the Vitamin D receptor (VDR) gene Bsm I large B polymorphism, which is related to the Th1-type response. Moreover, we found a significant correlation between autoimmune-related type 1 diabetes with HLA DR9 and detection of GAD-reactive Th1 (T helper 1)-type cells. In the present article, we tried to clarify whether the frequency of one of the CTLA-4 SNPs, +6230G>A (CT60), is affected by the VDR gene Bsm I polymorphism or by HLA DR9 in Japanese type 1 diabetics. The frequency of the CT60 GG genotype did not appear to be affected by either the VDR gene Bsm I large B polymorphism or HLA DR9.

BsmI, TaqI, ApaI, and FokI polymorphisms in the vitamin D receptor gene and periodontitis: a meta-analysis of 15 studies including 1338 cases and 1302 controls

“…Some investigators presumed that the VDR polymorphisms influence bone resorption and immune function (Mathieu et al 2001, Froicu & Cantorna 2007, van Etten et al 2007, Garcia et al 2007). Several studies on the association between VDR polymorphisms and autoimmune diseases have been reported (Fan et al 2005, Kanazawa et al 2006, Birlea et al 2006, Maalej et al 2008). In the current study, we found that chronic periodontitis cases had a significantly lower frequency of bb genotype of Bsm I, higher frequency of AA genotype of Apa I and TT genotype of Taq I in Asians.…”

Inherited Variation in Vitamin D Genes and Type 1 Diabetes Predisposition

“…To date, there are 65 publications [19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48,49,50,51,52,53,54,55,56,57,58,59,60,61,62,63,64,65,66,67,68,69,70,71,72,73,74,75,76,77,78,79,80,81,82,83] on the association of VDR gene SNPs in T1D: these include case-control datasets [20,22,23,25,26,27,28,…”

“…A total of 39 publications support an association between VDR SNPs rs7975232 ( ApaI ), rs1544410 ( BsmI ), rs731236 ( TaqI ) and rs10735810 ( FokI ) alone or in combination with each other, (rs757343 Tru9I , rs1540339 and rs4760648) and T1D [19,21,22,23,24,26,27,28,29,30,34,35,36,37,38,40,41,42,43,44,46,48,49,50,52,53,55,56,59,60,61,62,63,65,68,69,70,71,73] (Table 2) in comparison with 16 studies that refute it [20,25,31,32,39,45,47,51,54,57,58,64,66,67,72,74]. …”

Association between the Rs3087243 polymorphism and risk for diabetes: a meta-analysis

“…A total of 7 references published on the association between the rs3087243 polymorphism and T1D were identified according to our inclusion criteria, involving 7085 cases and 9963 controls (Zhernakova et al, 2005;Baniasadi et al, 2006;Ikegami et al 2006;Kanazawa et al, 2006;Howson et al 2007;Douroudis et al, 2009;Benmansour el al., 2010). The main characteristics of these studies are described in Table 1.…”

“…All these genes are in close linkage (Bartsocas et al 2006). Many molecular epidemiologic studies have evaluated the potential role of rs3087243 (Ueda et al, 2003;Kawoura and Loannidis, 2005;Zhernakova et al, 2005;Ikegami et al, 2006;Kanazawa et al, 2006;Caputo et al, 2007;Howson et al, 2007) in susceptibility to T1D. Given the amount of accumulated data, we believe that it is important to perform a quantitative synthesis of the evidence.…”