CTLA4/ICOS gene variants and haplotypes are associated with rheumatoid arthritis and primary biliary cirrhosis in the Canadian population

Abstract

Our results provide evidence for RA and PBC association with the CTLA4/ICOS locus and suggest that the risk allele(s) within this region may be common to both diseases.

Association analysis of cytotoxic T-lymphocyte antigen 4 gene polymorphisms with primary biliary cirrhosis in Japanese patients

“…SNP rs231775 associated with PBC is commonly referred to as 49AG in several studies [23,24,27,31,41]. Our finding corroborated a previous report [31], in which 49AG was not associated with susceptibility to PBC but there was a discrepancy in association with liver damage that might have arisen from the number of cases analyzed.…”

“…As sCTLA4, which is secreted by resting T cells, is a suppressor of T-cell activation, it is conceivable that carriers of the +CT60G-allele allele may be more susceptible to autoimmune diseases. [44] Although 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 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 15 studies from Canada and Italy found an association between PBC and the CT60 SNP [29,41], other studies have since failed to confirm this association [27,28], including ours.…”

A genome-wide screen of gene–gene interactions for rheumatoid arthritis susceptibility

“…Other strongly associated SNPs include previously reported SNPs in the PTPN22 and TRAF1-C5 loci (Supplementary Table 4) as well as several SNPs near the CD28-CTLA4-ICOS locus on chromosome 2q33 (Supplementary Table 4). This region has recently been confirmed to be associated with RA (Walker et al 2009). While the previous emphasis was on SNPs closer to CTLA4 and ICOS, our data show association with SNPs in between CD28 and CTLA4.…”

Genetic polymorphisms in CTLA4 and SLC4A2 are differentially associated with the pathogenesis of primary biliary cirrhosis in Japanese patients

“…Many candidate gene association studies have been performed and several single nucleotide polymorphisms (SNPs) have been associated with PBC, including human leukocyte antigen (HLA), cytotoxic T-lymphocyte antigen 4 (CTLA4), solute carrier family 4 anion exchanger, member 2 (SLC4A2), tumor necrosis factor, and programmed cell death 1 and multidrug resistance protein 3 [2][3][4][5][6][7][8][9][10][11][12][13]. In addition to these genes, recent genome-wide association studies have revealed that IL12A, IL12RB2, IRF5-TNPO3, 17q12-21, and MMEL1 loci were associated with PBC susceptibility in Caucasians [14][15][16].…”