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SNP rs3087243
Basic Information
Name
rs3087243
Chromosome
2
Position
203874196
Weight of evidence
98
Genotype Frequency
Allele Frequency
Additional Information
SNPedia (3)
PLoS (27)
Mendeley (23)
Personal Genome Project (0)
Genome.gov (3)
Other users (1687)
Comments (0)
Links to SNPedia
Title
Summary
rs3087243 A/A
Increased risk for auto-immune diseases
rs3087243 G/G
Normal risk for autoimmune diseases
rs3087243 A/G
Increased risk for auto-immune diseases
Note: For some SNPs, testing providers detect the genotype from the opposite strand of DNA, so that the genotypes listed on openSNP don't appear here. In those cases, please replace "A" by "T" or "G" by "C" (and vice-versa).
Publications on this SNP on the Public Library of Science:
First Author
Title
Year of Publication
# of readers
James M. Kelley
An African Ancestry-Specific Allele of
CTLA4
Confers Protection against Rheumatoid Arthritis in African Americans
2009
4663
Matthew J. Loza
Assembly of Inflammation-Related Genes for Pathway-Focused Genetic Analysis
2007
18410
Qing Yan
Association between CTLA-4 60G/A and -1661A/G Polymorphisms and the Risk of Cancers: A Meta-Analysis
2013
2021
Lori B. Chibnik
Genetic Risk Score Predicting Risk of Rheumatoid Arthritis Phenotypes and Age of Symptom Onset
2011
4578
Yifeng Guo
Polymorphisms in
CTLA4
Influence Incidence of Drug-Induced Liver Injury after Renal Transplantation in Chinese Recipients
2012
1923
Liang Sun
CTLA4
Variants and Haplotype Contribute Genetic Susceptibility to Myasthenia Gravis in Northern Chinese Population
2014
1854
Petr Pancoska
A New Mathematical Model for the Interpretation of Translational Research Evaluating Six CTLA-4 Polymorphisms in High-Risk Melanoma Patients Receiving Adjuvant Interferon
2014
1769
Ian C. Scott
Predicting the Risk of Rheumatoid Arthritis and Its Age of Onset through Modelling Genetic Risk Variants with Smoking
2013
11843
Paula S. Ramos
A Comprehensive Analysis of Shared Loci between Systemic Lupus Erythematosus (SLE) and Sixteen Autoimmune Diseases Reveals Limited Genetic Overlap
2011
14828
Daniele Saverino
High Levels of Soluble Ctla-4 Are Present in Anti-Mitochondrial Antibody Positive, but Not in Antibody Negative Patients with Primary Biliary Cirrhosis
2014
1134
Jonathan P. Bradfield
A Genome-Wide Meta-Analysis of Six Type 1 Diabetes Cohorts Identifies Multiple Associated Loci
2011
15942
Shuang-Xia Zhao
Association of the
CTLA4
Gene with Graves' Disease in the Chinese Han Population
2010
4145
James M. Kelley
An African Ancestry-Specific Allele of
CTLA4
Confers Protection against Rheumatoid Arthritis in African Americans
2009
5414
Alexandra Zhernakova
Meta-Analysis of Genome-Wide Association Studies in Celiac Disease and Rheumatoid Arthritis Identifies Fourteen Non-HLA Shared Loci
2011
20598
Yifeng Guo
CTLA4 Gene Polymorphisms Influence the Incidence of Infection after Renal Transplantation in Chinese Recipients
2013
2161
Chris Cotsapas
Pervasive Sharing of Genetic Effects in Autoimmune Disease
2011
21388
Marie Louise Max Andersen
Complex
Multi
-
Block Analysis
Identifies New Immunologic and Genetic Disease Progression Patterns Associated with the Residual β-Cell Function 1 Year after Diagnosis of Type 1 Diabetes
2013
2989
Yongshuai Jiang
Meta-Analysis of 125 Rheumatoid Arthritis-Related Single Nucleotide Polymorphisms Studied in the Past Two Decades
2012
3263
Jingnan Wang
Common Variants on Cytotoxic T Lymphocyte Antigen-4 Polymorphisms Contributes to Type 1 Diabetes Susceptibility: Evidence Based on 58 Studies
2014
1147
Weifeng Tang
Lack of Association between Cytotoxic T-lymphocyte Antigen 4 (
CTLA-4
) -1722T/C (rs733618) Polymorphism and Cancer Risk: From a Case-Control Study to a Meta-Analysis
2014
1845
Hirofumi Nakaoka
A Systems Genetics Approach Provides a Bridge from Discovered Genetic Variants to Biological Pathways in Rheumatoid Arthritis
2011
5888
Thorsten Thye
CTLA4
Autoimmunity-Associated Genotype Contributes to Severe Pulmonary Tuberculosis in an African Population
2009
2803
Margrit Urbanek
The Role of Inflammatory Pathway Genetic Variation on Maternal Metabolic Phenotypes during Pregnancy
2012
4645
Vincent Plagnol
Genome-Wide Association Analysis of Autoantibody Positivity in Type 1 Diabetes Cases
2011
10702
Hinal Patel
Association of Cytotoxic T-Lymphocyte Antigen 4 (
CTLA4
) and Thyroglobulin (
TG
) Genetic Variants with Autoimmune Hypothyroidism
2016
347
Wei-Hsin Ting
Association of Cytotoxic T-Lymphocyte-Associated Protein 4 (
CTLA4
) Gene Polymorphisms with Autoimmune Thyroid Disease in Children and Adults: Case-Control Study
2016
565
Lucia Vernerova
A Combination of
CD28
(rs1980422) and
IRF5
(rs10488631) Polymorphisms Is Associated with Seropositivity in Rheumatoid Arthritis: A Case Control Study
2016
2047
Publications on this SNP on Mendeley
First Author
Title
Pub. Year
# of Readers
DOI
Megumi Takahashi
HLA and CTLA4 polymorphisms may confer a synergistic risk in the susceptibility to Graves' disease.
2010
1
-
Lisa M Maier
Allelic variant in CTLA4 alters T cell phosphorylation patterns.
2007
5
10.1073/pnas.0706409104
Katja Repnik
CTLA4 CT60 single-nucleotide polymorphism is associated with Slovenian inflammatory bowel disease patients and regulates expression of CTLA4 isoforms.
2010
1
Akio Kishi
The onset of diabetes in three out of four sisters: a Japanese family with type 1 diabetes. A case report.
2009
1
10.1507/endocrj.K09E-079
Felicity Payne
Interaction analysis of the CBLB and CTLA4 genes in type 1 diabetes.
2007
10
10.1189/jlb.0906577
Jihen Benmansour
Association of Single Nucleotide Polymorphisms in Cytotoxic T-Lymphocyte Antigen 4 and Susceptibility to Autoimmune Type 1 Diabetes in Tunisians
2010
4
10.1128/CVI.00099-10
Akio Kishi
The onset of diabetes in three out of four sisters: a Japanese family with type 1 diabetes. A case report.
2009
1
Márcia Regina Pincerati
CTLA4CT60 gene polymorphism is not associated with differential susceptibility to pemphigus foliaceus.
2010
2
10.1590/S1415-47572010005000073
Vojko Berce
Functional polymorphism in CTLA4 gene influences the response to therapy with inhaled corticosteroids in Slovenian children with atopic asthma.
2010
2
10.3109/13547500903384318
Masanori Moriguchi
Clinical and genetic characteristics of patients with autoimmune thyroid disease with anti-islet autoimmunity
2011
5
10.1016/j.metabol.2010.07.025
Vojko Berce
Functional polymorphism in CTLA4 gene influences the response to therapy with inhaled corticosteroids in Slovenian children with atopic asthma.
2010
1
-
Francesca Megiorni
Cytotoxic T-lymphocyte antigen 4 (CTLA4) +49AG and CT60 gene polymorphisms in Alopecia Areata: a case-control association study in the Italian population.
2013
1
10.1007/s00403-013-1348-3
Márcia Regina Pincerati
CTLA4CT60 gene polymorphism is not associated with differential susceptibility to pemphigus foliaceus
2010
2
10.1590/S1415-47572010005000073
Joanna M M Howson
Evidence of Gene-Gene Interaction and Age-at-Diagnosis Effects in Type 1 Diabetes.
2012
4
10.2337/db11-1694
Nina A Daha
Confirmation of STAT4, IL2/IL21, and CTLA4 polymorphisms in rheumatoid arthritis.
2009
8
-
Lisa M Maier
Allelic variant in CTLA4 alters T cell phosphorylation patterns.
2007
6
10.1073/pnas.0706409104
Greggory S LaBerge
PTPN22 is genetically associated with risk of generalized vitiligo, but CTLA4 is not.
2008
2
-
Katja Repnik
CTLA4 CT60 single-nucleotide polymorphism is associated with Slovenian inflammatory bowel disease patients and regulates expression of CTLA4 isoforms.
2010
0
-
Karen H Costenbader
Genetic polymorphisms in PTPN22, PADI-4, and CTLA-4 and risk for rheumatoid arthritis in two longitudinal cohort studies: evidence of gene-environment interactions with heavy cigarette smoking
2008
18
10.1186/ar2421
Yifeng Guo
Polymorphisms in CTLA4 Influence Incidence of Drug-Induced Liver Injury after Renal Transplantation in Chinese Recipients.
2012
1
10.1371/journal.pone.0051723
Masanori Moriguchi
Clinical and genetic characteristics of patients with autoimmune thyroid disease with anti-islet autoimmunity.
2011
4
-
Masanori Moriguchi
Clinical and genetic characteristics of patients with autoimmune thyroid disease with anti-islet autoimmunity.
2011
4
10.1016/j.metabol.2010.07.025
Megumi Takahashi
HLA and CTLA4 polymorphisms may confer a synergistic risk in the susceptibility to Graves' disease.
2010
1
10.1038/jhg.2010.20
Evidence compiled by the
Personal Genome Project
There are no results from the
Personal Genome Project
yet. Please come back later.
Publications listed by
Genome.gov
First Author
Title
Journal
Publication Date
Trait
p-value
Confidence Interval
Barrett JC
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
Nat Genet
05/10/2009
Type 1 diabetes
1.0e-15
NR
Cooper JD
Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.
Nat Genet
11/02/2008
Type 1 diabetes
8.0e-11
NR
Plagnol V
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
PLoS Genet
08/04/2011
Type 1 diabetes autoantibodies
2.0e-17 (T1D)
[NR]
Users who share this SNP:
Genome Browser