[Paper-level Aggregated] PMCID: PMC5083195

Evidence Type(s): Functional

Summary: Mutation: rs1122269 | Summary: The variant rs1122269 showed negative correlations with the expression of CDH4 in a cis-manner, indicating it may alter molecular function related to gene expression. It also affects CDH4 expression levels in lymphoblastoid cell lines after exposure to gemcitabine, demonstrating a functional impact on molecular expression.

Evidence Type: Functional Mutation: rs4925193 | Summary: The variant rs4925193 demonstrated negative correlations with the expression of CDH4 in a cis-manner, suggesting it may influence molecular function associated with gene expression.

Gene→Variant (gene-first): CDH4(1002):rs1122269 CDH4(1002):rs4925193

Genes: CDH4(1002)

Variants: rs1122269 rs4925193

[Paper-level Aggregated] PMCID: PMC5083195

Evidence Type(s): Prognostic

Summary: Mutation: rs1122269 | Summary: The mRNA expression levels of CDH4, associated with variant rs1122269, correlated with overall survival (OS) in pancreatic cancer patients, indicating a potential prognostic role.

Evidence Type: Prognostic Mutation: rs4925193 | Summary: The mRNA expression levels of CDH4, associated with variant rs4925193, correlated with overall survival (OS) in pancreatic cancer patients, suggesting a potential prognostic significance.

Gene→Variant (gene-first): CDH4(1002):rs1122269 CDH4(1002):rs4925193

Genes: CDH4(1002)

Variants: rs1122269 rs4925193

[Paper-level Aggregated] PMCID: PMC5083195

Evidence Type(s): Predictive

Summary: Mutation: rs7515290 | Summary: The SNP rs7515290 showed trends associated with gemcitabine IC50 values, indicating a potential correlation with drug response in pancreatic cancer.

Evidence Type: Predictive Mutation: rs1374679 | Summary: The SNP rs1374679 demonstrated trends associated with gemcitabine IC50 values, suggesting a possible link to drug response in pancreatic cancer.

Evidence Type: Predictive Mutation: rs10979372 | Summary: The SNP rs10979372 was associated with gemcitabine IC50 values, indicating its potential role in influencing drug response in pancreatic cancer.

Evidence Type: Predictive Mutation: rs1122269 | Summary: The SNP rs1122269 showed trends related to gemcitabine IC50 values and correlates with the response to gemcitabine treatment, indicating its potential as a predictive biomarker for therapy response in pancreatic cancer.

Evidence Type: Predictive Mutation: rs9637468 | Summary: The variant rs9637468 is associated with gemcitabine response during pancreatic cancer therapy, indicating its potential as a genetic biomarker for predicting treatment outcomes.

Evidence Type: Predictive Mutation: rs4925193 | Summary: The variant rs4925193 is associated with gemcitabine response during pancreatic cancer therapy, suggesting its role as a genetic biomarker for predicting treatment outcomes.

Gene→Variant (gene-first): LRRC7(57554):rs7515290 NA:rs1374679 NA:rs10979372 CDH4(1002):rs1122269 NA:rs9637468 CDH4(1002):rs4925193

Genes: LRRC7(57554) NA CDH4(1002)

Variants: rs7515290 rs1374679 rs10979372 rs1122269 rs9637468 rs4925193

[Paragraph-level] PMCID: PMC5083195 Section: RESULTS PassageIndex: 16

Evidence Type(s): Predictive, Functional

Summary: Evidence Type: Predictive | Mutation: rs1122269 | Summary: The SNP rs1122269 in the CDH4 gene correlates with the response to gemcitabine treatment, indicating its potential as a predictive biomarker for therapy response. Evidence Type: Functional | Mutation: rs1122269 | Summary: The variant rs1122269 affects CDH4 expression levels in lymphoblastoid cell lines after exposure to gemcitabine, demonstrating a functional impact on molecular expression.

Gene→Variant (gene-first): 1002:rs1122269

Genes: 1002

Variants: rs1122269

[Paragraph-level] PMCID: PMC5083195 Section: RESULTS PassageIndex: 12

Evidence Type(s): Functional, Prognostic

Summary: Evidence Type: Functional | Mutation: rs1122269 | Summary: The variant rs1122269 showed negative correlations with the expression of CDH4 in a cis-manner, indicating it may alter molecular function related to gene expression. Evidence Type: Functional | Mutation: rs4925193 | Summary: The variant rs4925193 also demonstrated negative correlations with the expression of CDH4 in a cis-manner, suggesting it may influence molecular function associated with gene expression. Evidence Type: Prognostic | Mutation: rs1122269 | Summary: The mRNA expression levels of CDH4, associated with variant rs1122269, correlated with overall survival (OS) in pancreatic cancer patients, indicating a potential prognostic role. Evidence Type: Prognostic | Mutation: rs4925193 | Summary: The mRNA expression levels of CDH4, associated with variant rs4925193, correlated with overall survival (OS) in pancreatic cancer patients, suggesting a potential prognostic significance.

Gene→Variant (gene-first): 1002:rs1122269 1002:rs4925193 NA:rs9637468

Genes: 1002 NA

Variants: rs1122269 rs4925193 rs9637468

[Paragraph-level] PMCID: PMC5083195 Section: RESULTS PassageIndex: 10

Evidence Type(s): Predictive

Summary: Evidence Type: Predictive | Mutation: rs9637468 | Summary: The variant rs9637468 is associated with gemcitabine response during pancreatic cancer therapy, indicating its potential as a genetic biomarker for predicting treatment outcomes. Evidence Type: Predictive | Mutation: rs4925193 | Summary: The variant rs4925193 is associated with gemcitabine response during pancreatic cancer therapy, suggesting its role as a genetic biomarker for predicting treatment outcomes.

Gene→Variant (gene-first): 1002:rs4925193 NA:rs9637468

Genes: 1002 NA

Variants: rs4925193 rs9637468

[Paragraph-level] PMCID: PMC5083195 Section: RESULTS PassageIndex: 7

Evidence Type(s): Predictive

Summary: Evidence Type: Predictive | Mutation: rs7515290 | Summary: The SNP rs7515290 showed trends associated with gemcitabine IC50 values, indicating a potential correlation with drug response in pancreatic cancer. Evidence Type: Predictive | Mutation: rs1374679 | Summary: The SNP rs1374679 demonstrated trends associated with gemcitabine IC50 values, suggesting a possible link to drug response in pancreatic cancer. Evidence Type: Predictive | Mutation: rs10979372 | Summary: The SNP rs10979372 was associated with gemcitabine IC50 values, indicating its potential role in influencing drug response in pancreatic cancer. Evidence Type: Predictive | Mutation: rs1122269 | Summary: The SNP rs1122269 showed trends related to gemcitabine IC50 values, implying a potential impact on drug response in pancreatic cancer.

Gene→Variant (gene-first): NA:rs10979372 1002:rs1122269 NA:rs1374679 57554:rs7515290

Genes: NA 1002 57554

Variants: rs10979372 rs1122269 rs1374679 rs7515290

[Paper-level Aggregated] PMCID: PMC5083195

Evidence Type(s): Predictive, Functional, Prognostic

Justification: Predictive: The study indicates that certain SNPs, including rs9637468 and rs4925193, may serve as genetic biomarkers for predicting gemcitabine response during pancreatic cancer therapy, suggesting their role in predicting treatment outcomes. Functional: The research includes an eQTL analysis that investigates the influence of SNPs on gene expression, specifically showing that rs1122269 and rs4925193 have correlations with CDH4 expression, indicating a functional relationship between these variants and gene expression. Prognostic: The association of SNPs with overall survival (OS) in pancreatic cancer patients suggests that these genetic variants may have prognostic implications regarding patient outcomes following treatment.

Gene→Variant (gene-first): NA:rs10979372 CDH4(1002):rs1122269 NA:rs1374679 LRRC7(57554):rs7515290 CDH4(1002):rs4925193 NA:rs9637468

Genes: NA CDH4(1002) LRRC7(57554)

Variants: rs10979372 rs1122269 rs1374679 rs7515290 rs4925193 rs9637468

[Paragraph-level] PMCID: PMC5083195 Section: RESULTS PassageIndex: 16

Evidence Type(s): Predictive, Functional

Justification: Predictive: The passage discusses the effect of different genotypes at the SNP (rs1122269) on the response to gemcitabine, indicating a correlation between the variant and treatment response. Functional: The passage describes how the SNP genotype affects CDH4 expression levels in response to gemcitabine exposure, indicating an alteration in molecular function.

Gene→Variant (gene-first): 1002:rs1122269

Genes: 1002

Variants: rs1122269

[Paragraph-level] PMCID: PMC5083195 Section: RESULTS PassageIndex: 12

Evidence Type(s): Functional, Prognostic

Justification: Functional: The passage discusses the influence of SNPs (rs9637468 and rs4925193) on the expression of genes in a cis-manner, indicating that these variants alter molecular function related to gene expression. Prognostic: The mRNA expression levels of CDH4 were associated with overall survival (OS) of pancreatic cancer patients, suggesting that the variants may correlate with disease outcome independent of therapy.

Gene→Variant (gene-first): 1002:rs1122269 1002:rs4925193 NA:rs9637468

Genes: 1002 NA

Variants: rs1122269 rs4925193 rs9637468

[Paragraph-level] PMCID: PMC5083195 Section: RESULTS PassageIndex: 10

Evidence Type(s): Predictive, Prognostic

Justification: Predictive: The passage discusses the association of the SNPs rs9637468 and rs4925193 with overall survival (OS) in the context of gemcitabine treatment, indicating their potential as genetic biomarkers for predicting response to therapy. Prognostic: The passage mentions that the SNPs are associated with overall survival (OS) outcomes, suggesting that they may correlate with disease outcome independent of therapy.

Gene→Variant (gene-first): 1002:rs4925193 NA:rs9637468

Genes: 1002 NA

Variants: rs4925193 rs9637468

[Paragraph-level] PMCID: PMC5083195 Section: RESULTS PassageIndex: 7

Evidence Type(s): Predictive, Diagnostic

Justification: Predictive: The passage discusses trends of the SNPs being associated with drug response (gemcitabine IC50 values) and mentions pharmacogenomic effects on gemcitabine during pancreatic cancer treatment. Diagnostic: The SNPs are described as influencing disease risk in pancreatic cancer, indicating their potential role in classifying or associating with the disease.

Gene→Variant (gene-first): NA:rs10979372 1002:rs1122269 NA:rs1374679 57554:rs7515290

Genes: NA 1002 57554

Variants: rs10979372 rs1122269 rs1374679 rs7515290