RGD Reference Report - Gallbladder cancer predisposition: a multigenic approach to DNA-repair, apoptotic and inflammatory pathway genes. - Rat Genome Database

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Gallbladder cancer predisposition: a multigenic approach to DNA-repair, apoptotic and inflammatory pathway genes.

Authors: Srivastava, K  Srivastava, A  Kumar, A  Mittal, B 
Citation: Srivastava K, etal., PLoS One. 2011 Jan 21;6(1):e16449.
RGD ID: 5688734
Pubmed: PMID:21283657   (View Abstract at PubMed)
PMCID: PMC3025033   (View Article at PubMed Central)
DOI: DOI:10.1371/journal.pone.0016449   (Journal Full-text)

Gallbladder cancer (GBC) is a multifactorial disease with complex interplay between multiple genetic variants. We performed Classification and Regression Tree Analysis (CART) and Grade of Membership (GoM) analysis to identify combinations of alleles among the DNA repair, inflammatory and apoptotic pathway genetic variants in modifying the risk for GBC. We analyzed 16 polymorphisms in 8 genes involved in DNA repair, apoptotic and inflammatory pathways to find out combinations of genetic variants contributing to GBC risk. The genes included in the study were XRCC1, OGG1, ERCC2, MSH2, CASP8, TLR2, TLR4 and PTGS2. Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ERCC2 Asp312Asn (rs1799793), OGG1 Ser326Cys (rs1052133), OGG1 IVS4-15C>G (rs2072668), CASP8 -652 6N ins/del (rs3834129), PTGS2 -1195G>A (rs689466), PTGS2 -765G>C (rs20417), TLR4 Ex4+936C>T (rs4986791) and TLR2 -196 to -174del polymorphisms with GBC risk. The CART analysis revealed OGG1 Ser326Cys, and OGG1 IVS4-15C>G polymorphisms as the best polymorphic signature for discriminating between cases and controls. In the GoM analysis, the data was categorized into six sets representing risk for GBC with respect to the investigated polymorphisms. Sets I, II and III described low intrinsic risk (controls) characterized by multiple protective alleles while sets IV, V and VI represented high intrinsic risk groups (GBC cases) characterized by the presence of multiple risk alleles. The CART and GoM analyses also showed the importance of PTGS2 -1195G>A polymorphism in susceptibility to GBC risk. In conclusion, the present multigenic approach can be used to define individual risk profiles for gallbladder cancer in North Indian population.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ERCC2HumanGallbladder Neoplasms  IAGP DNA:SNP: :p.D312N (rs1799793) (human)RGD 
Ercc2RatGallbladder Neoplasms  ISOERCC2 (Homo sapiens)DNA:SNP: :p.D312N (rs1799793) (human)RGD 
Ercc2MouseGallbladder Neoplasms  ISOERCC2 (Homo sapiens)DNA:SNP: :p.D312N (rs1799793) (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ercc2  (ERCC excision repair 2, TFIIH core complex helicase subunit)

Genes (Mus musculus)
Ercc2  (excision repair cross-complementing rodent repair deficiency, complementation group 2)

Genes (Homo sapiens)
ERCC2  (ERCC excision repair 2, TFIIH core complex helicase subunit)


Additional Information