RGD Reference Report - A pilot study on cytotoxic T lymphocyte-4 gene polymorphisms in urinary schistosomiasis. - Rat Genome Database

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A pilot study on cytotoxic T lymphocyte-4 gene polymorphisms in urinary schistosomiasis.

Authors: Idris, ZM  Yazdanbakhsh, M  Adegnika, AA  Lell, B  Issifou, S  Noordin, R 
Citation: Idris ZM, etal., Genet Test Mol Biomarkers. 2012 Jun;16(6):488-92. doi: 10.1089/gtmb.2011.0209. Epub 2012 Jan 30.
RGD ID: 7204674
Pubmed: PMID:22288822   (View Abstract at PubMed)
PMCID: PMC3405286   (View Article at PubMed Central)
DOI: DOI:10.1089/gtmb.2011.0209   (Journal Full-text)

Urinary schistosomiasis is caused by the digenetic trematode Schistosoma haematobium, characterized by accumulation of eggs in the genitourinary tract. Cytotoxic T-lymphocyte antigen 4 (CTLA-4) can play an important role in parasitic infection due to its major role as a negative regulator of T-cell activation and proliferation. This study was performed in patients with schistosomiasis and healthy controls to analyze the allele and genotype frequencies of four CTLA-4 gene polymorphisms. The CTLA-4 gene was amplified using Taqman real-time polymerase chain reaction, and allele and genotypes of 49 patients with schistosomiasis were analyzed using allelic discrimination analysis followed by subsequent direct sequencing. The results were compared with healthy control subjects. The frequencies of CTLA-4 rs733618 A allele at position -1722 (p=0.001), rs11571316 C allele at position -1577 (p<0.001), and rs231775 A allele at position +49 (p=0.002) in the patient group were significantly higher than the control group. The rs733618 AA genotype (p=0.001), rs11571316 CC genotype (p<0.001), and rs231775 AA genotype (p=0.007) were also significantly overrepresented. Meanwhile, rs733618 AG genotype (p=0.001), rs11571316 CT genotype (p=0.02), and rs231775 GG genotype (p=0.029) were significantly decreased in the patients with schistosomiasis, as compared with the controls. No significant difference was observed in both allele and genotype of rs16841252. The results of this study suggest that the rs733618, rs11571316, and rs231775 polymorphisms in the CTLA-4 gene may influence susceptibility to schistosomiasis infection in the Gabonese children.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CTLA4Humanurinary schistosomiasis susceptibilityIAGP DNA:SNPs:multiple:Gabonese(human)RGD 
Ctla4Raturinary schistosomiasis susceptibilityISOCTLA4 (Homo sapiens)DNA:SNPs:multiple:Gabonese(human)RGD 
Ctla4Mouseurinary schistosomiasis susceptibilityISOCTLA4 (Homo sapiens)DNA:SNPs:multiple:Gabonese(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