|
Hypothyroidism
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Graves Disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
The aim of our study was to investigate whether the CTLA4 polymorphisms, including -318C/T (rs5742909), +49A/G (rs231775), and CT60 (rs3087243), were associated with GD and HD in Han Chinese adults and children.
|
27111218 |
2016 |
|
Graves Disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
A significant association was found between the CTLA-4 CT60 polymorphism (rs3087243) and GD, with regard to comparisons between allele and genotype frequencies (all p < 0.001).
|
24697361 |
2014 |
|
Graves Disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
In conclusion, our data support that the rs3087243 and rs231775 polymorphisms within the <i>CTLA4</i> gene confer genetic susceptibility to GD.
|
29299173 |
2017 |
|
Graves Disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
In this study, we investigated 329 (240 TBII-positive and 89 TBII-negative) GD patients and 378 controls for the polymorphisms in HLA-A, -DPB1 and CTLA4 (CT60, rs3087243, A/G) to investigate the contribution of these factors in the susceptibility to GD.
|
20300120 |
2010 |
|
Graves Disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
*642AT(8_33)(AT<sub>16-21</sub>)/CT60(rs3087243)G/Jo31(rs11571302)G/ICOSc.1554+4GT(8_15)(m) and TCA(AT<sub><16</sub>)GT(m) haplotypes increased risk of Graves' disease, especially in males, as well as overall Graves' orbitopathy development with severe outcome.
|
27638540 |
2017 |
|
Graves Disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
Interactions among the SNPs of rs231775, rs231779 and rs3087243 significantly increase the susceptibility to GD.
|
30223781 |
2018 |
|
Primary biliary cirrhosis
|
|
0.050 |
GeneticVariation
|
BEFREE |
In haplotype analyses, one haplotype [haplotype 1 (CGGA)] at rs5742909, rs231775, rs3087243, and rs231725, was significantly associated with susceptibility to both AMA-positive PBC and overall PBC.
|
20557968 |
2010 |
|
Primary biliary cirrhosis
|
|
0.050 |
GeneticVariation
|
BEFREE |
PubMed and the Chinese National Knowledge Infrastructure (CNKI) database were used to search correlative literatures, and the documents which were about the relationships between the polymorphisms of <i>CTLA4</i> (rs231775, rs231725, rs3087243, and rs5742909) and PBC were collected as of June 2016.
|
28642883 |
2017 |
|
Primary biliary cirrhosis
|
|
0.050 |
GeneticVariation
|
BEFREE |
The G allele of rs231775 is a risk factor for PBC, while AA genotype of rs3087243 and GG, GA and G allele of rs231725 show negative associations with PBC.
|
22414241 |
2012 |
|
Primary biliary cirrhosis
|
|
0.050 |
GeneticVariation
|
BEFREE |
The CTLA-4 haplotype 1 (rs231775 G, rs231777 C, rs3087243 G, rs231725 A; GCGA) was a risk factor for PBC susceptibility but a protective factor for PBC progression.
|
21594562 |
2011 |
|
Primary biliary cirrhosis
|
|
0.050 |
GeneticVariation
|
BEFREE |
Although no significant differences in clinical or biochemical characteristics between patients with PBC and PBC-AITD were seen (all P>0.05), liver function tests and metabolic traits in PBC patients were significantly (all P<0.05) affected by the CTLA4 (rs3087243), MMEL1 (rs2843403), PTPN22 (rs2476601) and RNASET2 (rs9355610) variants.
|
28922436 |
2017 |
|
Autoimmune thyroid disease (AITD)
|
|
0.030 |
GeneticVariation
|
BEFREE |
With respect to the rs3087243 (+6230G>A) polymorphism of CTLA4, the first sister had type 1 diabetes and AITD and had the GG genotype, whereas the second and third sisters, who had type 1 diabetes without AITD, had the AG genotype.
|
19506323 |
2009 |
|
Autoimmune thyroid disease (AITD)
|
|
0.030 |
GeneticVariation
|
BEFREE |
Taken together, our study suggested that the CT60 polymorphism (rs3087243) in CTLA-4 gene might confer susceptibility to the AITDs (GD/HT).
|
24697361 |
2014 |
|
Malignant Neoplasms
|
|
0.030 |
GeneticVariation
|
BEFREE |
rs231775, rs4553808 and rs5742909 but not rs3087243 and rs733618 were significantly related to cancer risk.
|
29794444 |
2018 |
|
Autoimmune thyroid disease (AITD)
|
|
0.030 |
GeneticVariation
|
BEFREE |
Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 rs3087243, ERBB3 rs2292399, and CLEC16A rs2903692, but not INS rs689, were significant risk factors for the cooccurrence of AITD in Japanese T1D.
|
18940880 |
2009 |
|
Malignant Neoplasms
|
|
0.030 |
GeneticVariation
|
BEFREE |
We investigated the association of five CTLA4 single-nucleotide polymorphisms (SNPs) (rs733618 C/T, rs4553808 A/G, rs5742909 C/T, rs231775 A/G, and rs3087243 G/A) with de novo malignancy in 1463 Chinese renal transplantation (RT) recipients who underwent a 192-month follow-up.
|
25667935 |
2015 |
|
Malignant Neoplasms
|
|
0.030 |
GeneticVariation
|
BEFREE |
Overall, no significant association was found between +49A/G (rs231775), -318C/T (rs5742909), and +6230A/G (rs3087243) CTLA-4 gene polymorphisms and lymphoid malignancies.
|
27498821 |
2016 |
|
Primary malignant neoplasm
|
|
0.020 |
GeneticVariation
|
BEFREE |
rs231775, rs4553808 and rs5742909 but not rs3087243 and rs733618 were significantly related to cancer risk.
|
29794444 |
2018 |
|
Asthma
|
|
0.020 |
GeneticVariation
|
BEFREE |
For CTLA-4, AA genotype and A allele in rs3087243 and rs231725 were increased in AR with asthma group while in AR group, AA genotype and A allele in rs231725 were obviously decreased.
|
27917628 |
2016 |
|
Myasthenia Gravis
|
|
0.020 |
GeneticVariation
|
BEFREE |
There is association of rs733618 with the general susceptibility of MG, and association of rs231775 and rs3087243 with the susceptibility of ocular onset MG, but no association with the severity of MG.
|
31473094 |
2019 |
|
Primary malignant neoplasm
|
|
0.020 |
GeneticVariation
|
BEFREE |
We investigated the association of five CTLA4 single-nucleotide polymorphisms (SNPs) (rs733618 C/T, rs4553808 A/G, rs5742909 C/T, rs231775 A/G, and rs3087243 G/A) with de novo malignancy in 1463 Chinese renal transplantation (RT) recipients who underwent a 192-month follow-up.
|
25667935 |
2015 |
|
Myasthenia Gravis
|
|
0.020 |
GeneticVariation
|
BEFREE |
A number of studies have identified Cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) as a candidate gene for MG. Several recent reports have indicated that single nucleotide polymorphisms (SNPs) of CTLA-4, including rs733618, rs4553808, rs5742909, rs231775, and rs3087243 were associated with the risks of MG; however, the results were not consistent.
|
30009380 |
2018 |
|
Asthma
|
|
0.020 |
GeneticVariation
|
BEFREE |
We genotyped CTLA4 CT60 (rs3087243) functional single nucleotide polymorphism (SNP) in children with asthma and in healthy controls and correlated the genotype data with asthma clinical data, including treatment response with inhaled corticosteroids measured by forced expiratory volume in the first second (FEV(1)).
|
19895365 |
2010 |
|
Fatigue
|
|
0.010 |
GeneticVariation
|
BEFREE |
Besides, patients carrying A allele of rs3087243 had significantly lower score of fatigue domain than those carrying G allele (2.5 ± 0.8 vs 3.9 ± 1.3, P < 0.001).
|
23432218 |
2013 |