Journal Article DKFZ-2024-01355

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Potential association between PSCA rs2976395 functional variant and pancreatic cancer risk.

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2024
Wiley-Liss Bognor Regis

International journal of cancer 155(8), 1432-1442 () [10.1002/ijc.35046]
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Abstract: Correlated regions of systemic interindividual variation (CoRSIV) represent a small proportion of the human genome showing DNA methylation patterns that are the same in all human tissues, are different among individuals, and are partially regulated by genetic variants in cis. In this study we aimed at investigating single-nucleotide polymorphisms (SNPs) within CoRSIVs and their involvement with pancreatic ductal adenocarcinoma (PDAC) risk. We analyzed 29,099 CoRSIV-SNPs and 133,615 CoRSIV-mQTLs in 14,394 cases and 247,022 controls of European and Asian descent. We observed that the A allele of the rs2976395 SNP was associated with increased PDAC risk in Europeans (p = 2.81 × 10-5). This SNP lies in the prostate stem cell antigen gene and is in perfect linkage disequilibrium with a variant (rs2294008) that has been reported to be associated with risk of many other cancer types. The A allele is associated with the DNA methylation level of the gene according to the PanCan-meQTL database and with overexpression according to QTLbase. The expression of the gene has been observed to be deregulated in many tumors of the gastrointestinal tract including pancreatic cancer; however, functional studies are needed to elucidate the function relevance of the association.

Keyword(s): DNA methylation ; pancreatic cancer ; risk factors ; single‐nucleotide polymorphism

Classification:

Note: #LA:C055# / 2024 Oct 15;155(8):1432-1442

Contributing Institute(s):
  1. C070 Klinische Epidemiologie und Alternf. (C070)
  2. Präventive Onkologie (C120)
  3. DKTK HD zentral (HD01)
  4. Genomische Epidemiologie (C055)
Research Program(s):
  1. 313 - Krebsrisikofaktoren und Prävention (POF4-313) (POF4-313)

Appears in the scientific report 2024
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Medline ; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Life Sciences ; DEAL Wiley ; Essential Science Indicators ; IF >= 5 ; JCR ; NationallizenzNationallizenz ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection
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 Record created 2024-06-27, last modified 2025-07-29


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