RGD Reference Report - Genetic variation in vitamin D-related genes and risk of colorectal cancer in African Americans. - Rat Genome Database

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Genetic variation in vitamin D-related genes and risk of colorectal cancer in African Americans.

Authors: Pibiri, Fabio  Kittles, Rick A  Sandler, Robert S  Keku, Temitope O  Kupfer, Sonia S  Xicola, Rosa M  Llor, Xavier  Ellis, Nathan A 
Citation: Pibiri F, etal., Cancer Causes Control. 2014 May;25(5):561-70. doi: 10.1007/s10552-014-0361-y. Epub 2014 Feb 23.
RGD ID: 151665501
Pubmed: PMID:24562971   (View Abstract at PubMed)
PMCID: PMC3978221   (View Article at PubMed Central)
DOI: DOI:10.1007/s10552-014-0361-y   (Journal Full-text)


PURPOSE: Disparities in both colorectal cancer (CRC) incidence and survival impact African Americans (AAs) more than other US ethnic groups. Because vitamin D is thought to protect against CRC and AAs have lower serum vitamin D levels, genetic variants that modulate the levels of active hormone in the tissues could explain some of the cancer health disparity. Consequently, we hypothesized that genetic variants in vitamin D-related genes are associated with CRC risk.
METHODS: To test this hypothesis, we studied 39 potentially functional single-nucleotide polymorphisms (SNPs) in eight genes (CYP2R1, CYP3A4, CYP24A1, CYP27A1, CYP27B1, GC, DHCR7, and VDR) in 961 AA CRC cases and 838 healthy AA controls from Chicago and North Carolina. We tested whether SNPs are associated with CRC incidence using logistic regression models to calculate p values, odds ratios, and 95 % confidence intervals. In the logistic regression, we used a log-additive genetic model and used age, gender, and percent West African ancestry, which we estimated with the program STRUCTURE, as covariates in the models.
RESULTS: A nominally significant association was detected between CRC and the SNP rs12794714 in the vitamin D 25-hydroxylase gene CYP2R1 (p = 0.019), a SNP that has previously been associated with serum vitamin D levels. Two SNPs, rs16847024 in the GC gene and rs6022990 in the CYP24A1 gene, were nominally associated with left-sided CRC (p = 0.015 and p = 0.018, respectively).
CONCLUSIONS: Our results strongly suggest that genetic variation in vitamin D-related genes could affect CRC susceptibility in AAs.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CYP24A1Humancolorectal cancer susceptibilityIAGP DNA:missense mutation:CDS: (rs6022990) (human)RGD 
Cyp24a1Ratcolorectal cancer susceptibilityISOCYP24A1 (Homo sapiens)DNA:missense mutation:CDS: (rs6022990) (human)RGD 
Cyp24a1Mousecolorectal cancer susceptibilityISOCYP24A1 (Homo sapiens)DNA:missense mutation:CDS: (rs6022990) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CYP24A1HumanNeoplasm of the large intestine susceptibilityIAGP DNA:missense mutation:CDS: (rs6022990)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Cyp24a1  (cytochrome P450, family 24, subfamily a, polypeptide 1)

Genes (Mus musculus)
Cyp24a1  (cytochrome P450, family 24, subfamily a, polypeptide 1)

Genes (Homo sapiens)
CYP24A1  (cytochrome P450 family 24 subfamily A member 1)


Additional Information