RGD Reference Report - Association between CYP24A1 polymorphisms and the risk of colonic polyps and colon cancer in a Chinese population. - Rat Genome Database

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Association between CYP24A1 polymorphisms and the risk of colonic polyps and colon cancer in a Chinese population.

Authors: Chen, Xue-Qi  Mao, Jia-Yu  Li, Wen-Bin  Li, Jian  Yang, Hong  Qian, Jia-Ming  Li, Jing-Nan 
Citation: Chen XQ, etal., World J Gastroenterol. 2017 Jul 28;23(28):5179-5186. doi: 10.3748/wjg.v23.i28.5179.
RGD ID: 151665177
Pubmed: PMID:28811712   (View Abstract at PubMed)
PMCID: PMC5537184   (View Article at PubMed Central)
DOI: DOI:10.3748/wjg.v23.i28.5179   (Journal Full-text)


AIM: To determine the pathogenesis and potential single nucleotide polymorphisms (SNPs) as screening sites for colonic polyps, colon cancer and ulcerative colitis, and to analyze the possible association between these genetic polymorphisms and the three diseases.
METHODS: We evaluated genetic polymorphisms in 144 newly diagnosed colonic polyp patients, 96 colon cancer patients and 44 ulcerative colitis patients. The four SNPs genotyped were rs4809957, rs6068816, rs6091822 and rs8124792. The control group consisted of 504 East Asians enrolled in the 1000 Genomes Project. Correlations between CYP24A1 SNPs and the diseases were analyzed by Fisher's exact probability test.
RESULTS: CYP24A1 polymorphisms rs4809957 A/G and rs6068816 C/T showed a statistically significant association with risk of the three diseases, when both the genotypes and allele frequencies were considered. With regard to rs6091822 G/T, all three diseases were related to risk allele carriers (GT + TT) vs wild-type (GG), but the associations between the allele frequencies and the diseases were not significant. The risk of colonic polyps and colon cancer was related to the allele frequencies of rs8124792 G/A, and this association remained for genotype frequencies of this SNP.
CONCLUSION: Four SNPs are related to the risk of colonic polyps and colon cancer. G allele in rs6091822 G/T may play an anti-cancer role only if it is homozygous. The A allele, which is a minor component of rs8124792, may be indicated in the diagnosis of colonic polyps or colon cancer rather than ulcerative colitis.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CYP24A1Humancolon cancer susceptibilityIAGP DNA:SNPs:multiple (human)RGD 
Cyp24a1Ratcolon cancer susceptibilityISOCYP24A1 (Homo sapiens)DNA:SNPs:multiple (human)RGD 
Cyp24a1Mousecolon cancer susceptibilityISOCYP24A1 (Homo sapiens)DNA:SNPs:multiple (human)RGD 
CYP24A1HumanColonic Polyps susceptibilityIAGP DNA:SNPs:multiple (human)RGD 
Cyp24a1RatColonic Polyps susceptibilityISOCYP24A1 (Homo sapiens)DNA:SNPs:multiple (human)RGD 
Cyp24a1MouseColonic Polyps susceptibilityISOCYP24A1 (Homo sapiens)DNA:SNPs:multiple (human)RGD 
CYP24A1Humanulcerative colitis susceptibilityIAGP DNA:SNPs:multiple (human)RGD 
Cyp24a1Ratulcerative colitis susceptibilityISOCYP24A1 (Homo sapiens)DNA:SNPs:multiple (human)RGD 
Cyp24a1Mouseulcerative colitis susceptibilityISOCYP24A1 (Homo sapiens)DNA:SNPs:multiple (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CYP24A1HumanColon cancer susceptibilityIAGP DNA:SNPs:multiple RGD 
CYP24A1HumanLarge intestinal polyposis susceptibilityIAGP DNA:SNPs:multiple RGD 
CYP24A1HumanUlcerative colitis susceptibilityIAGP DNA:SNPs:multiple 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