rs459552, APC

N. diseases: 14
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Adenoma
CUI: C0001430
Disease: Adenoma
0.010 GeneticVariation BEFREE The genetic association between D1</span>822V</span> and advanced distal adenoma was confined to persons consuming a high-fat diet (P(interaction)=0.03). 20510605 2010
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
0.070 GeneticVariation BEFREE This study aims to determine the contribution of polymorphisms in the genes of the β-catenin destruction complex to develop CRC, specifically adenomatous polyposis coli (APC) (rs11954856 G>T and rs459552 A>T), axis inhibition protein 1 (AXIN1) (rs9921222 C>T and rs1805105 C>T), AXIN2 (rs7224837 A>G), and dishevelled 2 (DVL2) (2074222 G>A and rs222836 C>T). 31723073 2019
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
0.070 GeneticVariation BEFREE However, special attention must be given to the missense mutations Asp1822Val and Ser2621Cys since their segregation with the FAP phenotype is questionable. 11668620 2001
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
0.070 GeneticVariation BEFREE The present study utilized a highly efficient method to identify APC mutations and investigated the association between the APC genetic variants Y486Y, A545A, T1493T, and D1822V and susceptibility to oral squamous cell carcinoma (OSCC). 26447891 2016
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
0.070 GeneticVariation BEFREE It is therefore unlikely that APC D1822V serves as an important marker for colorectal carcinoma. 14616385 2003
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
0.070 GeneticVariation BEFREE Fat intake modified the APC D1822V-adenoma association, but further studies are warranted. 20510605 2010
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
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
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
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
Atrial Premature Complexes
CUI: C0033036
Disease: Atrial Premature Complexes
0.030 GeneticVariation BEFREE It is therefore unlikely that APC D1822V serves as an important marker for colorectal carcinoma. 14616385 2003
Atrial Premature Complexes
CUI: C0033036
Disease: Atrial Premature Complexes
0.030 GeneticVariation BEFREE Fat intake modified the APC D1822V-adenoma association, but further studies are warranted. 20510605 2010
Atrial Premature Complexes
CUI: C0033036
Disease: Atrial Premature Complexes
0.030 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
Body mass index
CUI: C1305855
Disease: Body mass index
0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
Body mass index
CUI: C1305855
Disease: Body mass index
0.700 GeneticVariation GWASCAT Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. 29273807 2018
Carcinoma, Ovarian Epithelial
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
0.010 GeneticVariation BEFREE We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282). 24078348 2014
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.010 GeneticVariation BEFREE We used data collected as part of a multicenter study of 1,585 incident cases of colon cancer and 1,945 age- and sex-matched population-based controls to evaluate genetic, dietary, and environmental associations with the D1822V [corrected] variant of the APC gene. 11221825 2001
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
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 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 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 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
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
0.010 GeneticVariation BEFREE Examination of the potential interactions between diet and genotype found that a high cholesterol intake was associated with a greater risk of colorectal cancer only in noncarriers (DD) of the D1822V APC allele (odds ratio: 1.66; 95% CI: 1.00, 2.76). 17556698 2007
Malignant neoplasm of colon and/or rectum
0.040 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
Malignant neoplasm of colon and/or rectum
0.040 GeneticVariation BEFREE Examination of the potential interactions between diet and genotype found that a high cholesterol intake was associated with a greater risk of colorectal cancer only in noncarriers (DD) of the D1822V APC allele (odds ratio: 1.66; 95% CI: 1.00, 2.76). 17556698 2007