rs459552, APC

N. diseases: 14
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
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
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
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
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
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
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
Malignant neoplasm of colon and/or rectum
0.040 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 These results suggest a significant interaction between the D1822V polymorphism and the dietary intakes of cholesterol, calcium, and fiber for CRC risk. 17556698 2007
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
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
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
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
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
Malignant neoplasm of colon and/or rectum
0.040 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
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
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
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
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
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.010 GeneticVariation BEFREE When the analysis was restricted to our 'super-controls', healthy individuals with no family history for cancer, also rs1799977:A>G (MLH1 I219V) was associated with an increased risk in both colon and rectum patients with an odds ratio of 1.28 (CI=1.02-1.60) and 1.34 (CI=1.05-1.72), respectively (under the dominant model); while 2 SNPs, rs1800932:A>G (MSH6 P92P) and rs459552:T>A (APC D1822V) seemed to confer a protective effect. 20149637 2010
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.010 GeneticVariation BEFREE When the analysis was restricted to our 'super-controls', healthy individuals with no family history for cancer, also rs1799977:A>G (MLH1 I219V) was associated with an increased risk in both colon and rectum patients with an odds ratio of 1.28 (CI=1.02-1.60) and 1.34 (CI=1.05-1.72), respectively (under the dominant model); while 2 SNPs, rs1800932:A>G (MSH6 P92P) and rs459552:T>A (APC D1822V) seemed to confer a protective effect. 20149637 2010
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
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
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
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
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