rs459552, APC

N. diseases: 14
Disease: Colorectal Carcinoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.070 GeneticVariation BEFREE We studied thirteen single nucleotide polymorphisms (SNPs) located in SFRP3 (rs7775), CTNNB1 (β-catenin) [rs4135385, rs13072632], APC (rs454886, rs459552), LRP6 (rs2075241, rs2284396), DKK4 (rs3763511), DKK3 (rs6485350), TCF4 (rs12255372) and AXIN2 (rs3923086, rs3923087, rs4791171) in patients with colorectal cancer (n = 122) and controls (n = 110). 31485167 2019
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.070 GeneticVariation BEFREE The haplotypes G-T in APC (rs11954856-rs459552) and A-C in DVL2 (rs2074222-rs222836) were associated with decreased risk of CRC, while the G-T haplotype in the DVL2 gene was associated with increased CRC risk. 31723073 2019
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.070 GeneticVariation BEFREE When independently assessed in 971 patients with colorectal cancer and 954 healthy control subjects, none of the identified missense APC alterations conferred a significantly increased risk for colorectal cancer, odds ratio (95 percent confidence intervals): S130G = 3.1 (0.29-32.25), E1317Q = 1.08 (0.59-2.74), G2502S = 1 (0.65-1.63), D1822V (heterozygous) = 0.79 (0.64-0.98), D1822V (homozygous) = 0.82 (0.63-1.27). 18612690 2008
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.070 GeneticVariation BEFREE In a large Scottish case-control study, we investigated the effects of adenomatous polyposis coli (APC) Asp1822Val (rs459552) and APC Glu1317Gln substitutions on colorectal cancer (CRC) risk and whether these associations were influenced by lifestyle and dietary factors. 18375958 2008
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.070 GeneticVariation BEFREE These results suggest a significant interaction between the D1822V polymorphism and the dietary intakes of cholesterol, calcium, and fiber for CRC risk. 17556698 2007
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.070 GeneticVariation BEFREE Two of the missense variants found here, E1317Q and D1822V, have previously been related to a difference in risk of colorectal cancer. 15122587 2004
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.070 GeneticVariation BEFREE It is therefore unlikely that APC D1822V serves as an important marker for colorectal carcinoma. 14616385 2003