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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
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CDX2 VDR polymorphism and colorectal cancer.

Martha L Slattery1, Jennifer Herrick, Roger K Wolff

  • 1Department of Medicine, University of Utah, 375 Chipeta Way, Salt Lake City, UT 84108, USA. marty.slattery@hsc.utah.edu

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology
|December 19, 2007
PubMed
Summary

Vitamin D receptor (VDR) gene haplotypes, not the CDX2 polymorphism alone, are linked to colorectal cancer risk. Specific VDR haplotypes like bLFA and BSfG showed associations with increased or decreased risks for colon and rectal cancers.

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Area of Science:

  • Genetics and Molecular Biology
  • Cancer Research
  • Nutritional Epidemiology

Background:

  • Polymorphisms in the vitamin D receptor (VDR) gene are implicated in colorectal cancer (CRC) risk.
  • Understanding the genetic factors influencing CRC is crucial for prevention and treatment strategies.

Purpose of the Study:

  • To investigate the association of the CDX2 VDR gene polymorphism (rs11568820) and VDR haplotypes with colon and rectal cancer risk.
  • To determine if the CDX2 polymorphism modifies the association between dietary factors (calcium, vitamin D, fat) and CRC risk.

Main Methods:

  • Case-control study design utilizing data from two large cohorts for colon (1,574 cases, 1,970 controls) and rectal cancer (791 cases, 999 controls).
  • Genotyping of the CDX2 VDR polymorphism and analysis of VDR haplotypes.
  • Statistical analysis to assess associations and potential interactions with dietary factors.

Main Results:

  • The CDX2 VDR polymorphism was not independently associated with colon or rectal cancer risk.
  • No significant modification of dietary factor associations with CRC by the CDX2 polymorphism was observed.
  • The bLFA VDR haplotype was associated with an increased risk of colon cancer (OR, 2.45; 95% CI, 1.38-4.38).
  • The BSfG haplotype showed an increased risk for rectal cancer (OR, 1.61; 95% CI, 1.05-2.49), while the BSFA haplotype was associated with a reduced risk (OR, 0.71; 95% CI, 0.52-0.97).

Conclusions:

  • VDR gene haplotype analysis, encompassing multiple VDR gene domains, provides a more comprehensive understanding of VDR's role in colon and rectal cancer.
  • Specific VDR haplotypes, beyond single polymorphisms, may significantly influence individual susceptibility to colorectal cancer.