RGD Reference Report - Association of the CTLA4 gene with Graves' disease in the Chinese Han population. - Rat Genome Database

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Association of the CTLA4 gene with Graves' disease in the Chinese Han population.

Authors: Zhao, SX  Pan, CM  Cao, HM  Han, B  Shi, JY  Liang, J  Gao, GQ  Peng, YD  Su, Q  Chen, JL  Zhao, JJ  Song, HD 
Citation: Zhao SX, etal., PLoS One. 2010 Mar 23;5(3):e9821. doi: 10.1371/journal.pone.0009821.
RGD ID: 7421517
Pubmed: PMID:20352109   (View Abstract at PubMed)
PMCID: PMC2843719   (View Article at PubMed Central)
DOI: DOI:10.1371/journal.pone.0009821   (Journal Full-text)

To determine whether genetic heterogeneity exists in patients with Graves' disease (GD), the cytotoxic T-lymphocyte associated 4 (CTLA-4) gene, which is implicated a susceptibility gene for GD by considerable genetic and immunological evidence, was used for association analysis in a Chinese Han cohort recruited from various geographic regions. Our association study for the SNPs in the CTLA4 gene in 2640 GD patients and 2204 control subjects confirmed that CTLA4 is the susceptibility gene for GD in the Chinese Han population. Moreover, the logistic regression analysis in the combined Chinese Han cohort revealed that SNP rs231779 (allele frequencies p = 2.81x10(-9), OR = 1.35, and genotype distributions p = 2.75x10(-9), OR = 1.42) is likely the susceptibility variant for GD. Interestingly, the logistic regression analysis revealed that SNP rs35219727 may be the susceptibility variant to GD in the Shandong population; however, SNP, rs231779 in the CTLA4 gene probably independently confers GD susceptibility in the Xuzhou and southern China populations. These data suggest that the susceptibility variants of the CTLA4 gene varied between the different geographic populations with GD.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Graves' disease susceptibilityIAGP 7421517DNA:SNP: :rs231779(human) RGD 
Graves' disease susceptibilityISOCTLA4 (Homo sapiens)7421517; 7421517DNA:SNP: :rs231779(human) RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ctla4  (cytotoxic T-lymphocyte-associated protein 4)

Genes (Mus musculus)
Ctla4  (cytotoxic T-lymphocyte-associated protein 4)

Genes (Homo sapiens)
CTLA4  (cytotoxic T-lymphocyte associated protein 4)


Additional Information