Association of CTLA-4 gene promoter polymorphisms with systemic sclerosis in Iranian population

Almasi, Shohreh; Erfani, Nasrollah; Mojtahedi, Zahra; Rajaee, A; Ghaderi, Abbas

doi:10.1038/sj.gene.6364313

Cited by 30 publications

(12 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The +49A/G SNP resulting in an amino acid substitution (Thr17Ala) in the leader peptide causes altered processing in the endoplasmic reticulum and lower surface expression in transected cells (Ligers et al, 2001). In fact, studies found that the CTLA-4 -318C/T polymorphism is associated with the risk of developing several autoimmune diseases and malignancies (Chang et al, 2004;Almasi et al, 2006;Su et al, 2007;Jones et al, 2009). In this study, we demonstrated an association between the -318C/T CTLA-4 polymorphism and RA.…”

Section: Discussionmentioning

confidence: 55%

CTLA-4 and CD86 genetic variants and haplotypes in patients with rheumatoid arthritis in southeastern China

Liu

Jiang²,

Wang³

et al. 2013

Genet. Mol. Res.

View full text Add to dashboard Cite

ABSTRACT. The cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) and costimulatory molecule (CD80/CD86) genes are important susceptibility genes associated with autoimmune diseases. CTLA-4 polymorphisms have been found to be associated with various autoimmune diseases. However, the association data are inconsistent for rheumatoid arthritis (RA). We investigated the genetic association of CTLA-4 and CD86 polymorphisms with RA in a Chinese population. Four single nucleotide polymorphisms (SNPs) (rs5742909 and rs231775 in CTLA-4, and rs17281995 and rs1129055 in CD86) were genotyped in 213 patients with RA and 303 healthy controls using polymerase chain reaction-restriction fragment length polymorphism. The genotype and allele distributions of rs5742909 differ significantly between RA patients and controls (P < 0.05) and the dominant model was found to be the best inheritance model. Stratification studies showed that CTLA-4 gene polymorphisms were more significantly associated with rheumatoid factor-negative and anti-cyclic citrullinated peptide-negative subgroups in the southeastern Han Chinese population. We also found that the haplotype of 2 CTLA-4 SNPs showed significant association with the disease (P = 0.0025) with the T-A (OR = 1.88, 95%CI = 1.12-3.15) and T-G (OR = 3.45, 95%CI = 1.10-10.87) haplotypes being observed more frequently in cases than in controls. We failed to find any significant association of the 2 CD86 SNPs with RA. These results indicate that the polymorphisms of CTLA-4 (rs5742909) may be important genetic factors for RA risk in the southeastern Han Chinese population.

show abstract

Section: Discussionmentioning

confidence: 55%

CTLA-4 and CD86 genetic variants and haplotypes in patients with rheumatoid arthritis in southeastern China

Liu

Jiang²,

Wang³

et al. 2013

Genet. Mol. Res.

View full text Add to dashboard Cite

show abstract

“…Various factors could explain these discrepancies: for instance, differences in genetic background. In fact, the allele frequencies of both polymorphisms for healthy controls reported in these studies are quite different: in our controls the frequency of −318T is 13% and of +49G is 24%, compared to 3·6% and 36·4% in Caucasian (Iran) [19,21], 1·5% and 21·2% in African Americans [20], 5·7% and 37% in Caucasian (USA) [20] and 12·6% and 66·8% in Japanese patients, respectively [22]. Differences in the definition of SSc are possible but unlikely, because all these studies refer to the ACR clinical criteria [23].…”

Section: Discussionmentioning

confidence: 88%

Association of −318 C/T and +49 A/G cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphisms with a clinical subset of Italian patients with systemic sclerosis

Balbi

Ferrera²,

Rizzi³

et al. 2007

Clinical and Experimental Immunology

View full text Add to dashboard Cite

SummarySystemic sclerosis (SSc) is a complex and heterogeneous autoimmune disorder with a multi-factorial pathogenesis. Like other autoimmune disorders, the possible role of specific cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphisms in predisposing to SSc has been hypothesized, but it remains controversial. CTLA-4 promoter (-318C/T) and exon 1 (+49 A/G) polymorphisms have been analysed in 43 Italian females with SSc and in 93 unrelated matched healthy controls by a newly designed tetra-primer amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR) method. No significant association has been found with either polymorphisms. Nevertheless, SSc patients without concomitant Hashimoto's thyroiditis (HT) were carrying both the -318T allele (P = 0·031) and the +49 G allele (P = 0·076) more frequently than SSc patients with HT [defined by positivity for anti-thyroperoxidase (TPO) and anti-thyroglobulin (TGA) autoantibodies] than controls. Haplotype analysis confirms this association (P = 0·028), and suggests the predominant role of the -318T, whereas that of the +49 G, if any, seems weak. Thus, in Italian SSc patients the CTLA-4 -318C/T promoter polymorphism appears to be associated with the susceptibility to develop SSc without thyroid involvement. Larger studies are needed to confirm these findings and to clarify whether the -318C/T polymorphism is the functional responsible or whether it reflects the presence of another linked genetic element in the same chromosomal region.

show abstract

“…Considering its role as a negative regulator of T-cell activation, it comes as no great surprise that the CTLA-4 gene was found to be associated with a variety of autoimmune conditions [134]. The CTLA-4 gene locus was reported to be linked and/or associated with type 1 diabetes mellitus (T1D) [135e 137], asthma [138], Addison's disease [139], myasthenia gravis [140], Sjogren's syndrome [141], systemic lupus erythematosus (SLE) [142], systemic sclerosis [143], ulcerative colitis [144] and with all forms of AITD (GD, HT, and TAbs [123], see below).…”

Section: Ctla-4 Is Associated With Several Autoimmune Conditionsmentioning

confidence: 99%

The CD40, CTLA-4, thyroglobulin, TSH receptor, and PTPN22 gene quintet and its contribution to thyroid autoimmunity: Back to the future

Jacobson

Tomer

2007

Journal of Autoimmunity

170

140

View full text Add to dashboard Cite

Autoimmune thyroid diseases (AITD) are common autoimmune diseases, affecting up to 5% of the general population. Thyroid-directed autoimmunity is manifested in two classical autoimmune conditions, Hashimoto's thyroiditis, resulting in hypothyroidism and Graves' disease resulting in hyperthyroidism. Autoimmune thyroid diseases arise due to an interplay between environmental and genetic factors. In the past decade significant progress has been made in our understanding of the genetic contribution to the etiology of AITD. Indeed, several AITD susceptibility genes have been identified. Some of these susceptibility genes are specific to either Graves' disease or Hashimoto's thyroiditis, while others confer susceptibility to both conditions. Both immunoregulatory genes and thyroid specific genes contribute to the pathogenesis of AITD. The time is now ripe to examine the mechanistic basis for the contribution of genetic factors to the etiology of AITD. In this review, we will focus on the contribution of non-MHC II genes.

show abstract

Association of CTLA-4 gene promoter polymorphisms with systemic sclerosis in Iranian population

Cited by 30 publications

References 25 publications

CTLA-4 and CD86 genetic variants and haplotypes in patients with rheumatoid arthritis in southeastern China

CTLA-4 and CD86 genetic variants and haplotypes in patients with rheumatoid arthritis in southeastern China

Association of −318 C/T and +49 A/G cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphisms with a clinical subset of Italian patients with systemic sclerosis

The CD40, CTLA-4, thyroglobulin, TSH receptor, and PTPN22 gene quintet and its contribution to thyroid autoimmunity: Back to the future

Contact Info

Product

Resources

About