rs4420638, APOC1

N. diseases: 43
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.820 GeneticVariation BEFREE SNPs rs6700896 in LEPR (OR, 1.06; 95% CI, 1.02 to 1.09; per minor allele), rs4537545 in IL6R (OR, 0.94; 95% CI, 0.91 to 0.97), and rs4420638 in the APOE-CI-CII cluster (OR, 1.16; 95% CI, 1.12 to 1.21) were all associated with risk of coronary heart disease. 19567438 2009
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.820 GeneticVariation BEFREE The SNPs rs2075650 and rs4420638 were linked to the most replications within a single reclassified phenotype or very similar reclassified phenotypes; both were associated with Alzheimer's disease (AD). 29942042 2019
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.820 GeneticVariation BEFREE The minor allele of rs4420638 (G) and the minor allele of rs157582 (T) showed associations with lower Mini-mental State Examination score, higher Alzheimer Disease Assessment Scale-cognitive subscale 11 score and smaller entorhinal volume using both baseline and longitudinal measurements, as well as with accelerated cognitive decline. 31760383 2019
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.820 GeneticVariation BEFREE Our case-control study shows that rs4420638 genotype AA has a significant association with the concentrations of circulating HDL-C and APOA-I in CHD in Han Chinese males. 26535656 2015
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.810 GeneticVariation BEFREE Nineteen single nucleotide polymorphisms (SNPs) previously associated with AMD, including rs10490924 (<i>ARMS2/HTRA1</i>), rs10737680 (<i>CFH</i>), rs13278062 (<i>TNFRSF10A</i>), rs1864163 (<i>CETP</i>), rs2230199 (<i>C3</i>), rs3130783 (<i>IER3/DDR1</i>), rs334353 (<i>TGFBR1</i>), rs3812111 (<i>COL10A1</i>), rs429608 (<i>C2/CFB</i>), rs4420638 (<i>APOE</i>), rs4698775 (<i>CFI</i>), rs5749482 (<i>TIMP3</i>), rs6795735 (<i>ADAMTS9</i>), rs8017304 (<i>RAD51B</i>), rs8135665 (<i>SLC16A8</i>), rs920915 (<i>LIPC</i>), rs943080 (<i>VEGFA</i>), rs9542236 (<i>B3GALTL</i>) and rs13081855 (<i>COL8A1/FILIP1L</i>), were genotyped in this cohort. 31819893 2019
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.720 GeneticVariation BEFREE SNPs rs6700896 in LEPR (OR, 1.06; 95% CI, 1.02 to 1.09; per minor allele), rs4537545 in IL6R (OR, 0.94; 95% CI, 0.91 to 0.97), and rs4420638 in the APOE-CI-CII cluster (OR, 1.16; 95% CI, 1.12 to 1.21) were all associated with risk of coronary heart disease. 19567438 2009
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.720 GeneticVariation BEFREE Significant interaction of APOE rs4420638 polymorphism with HDL-C and APOA-I levels in coronary heart disease in Han Chinese men. 26535656 2015
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.710 GeneticVariation BEFREE Following regression analysis adjusted by collection center, gender, duration of diabetes, and average HbA1c, two SNPs were significantly associated with DN. rs4420638 in the APOC1 region (odds ratio [OR] = 1.51; confidence intervals [CI]: 1.19-1.91; P = 0.001) and rs1532624 in CETP (OR = 0.82; CI: 0.69-0.99; P = 0.034); rs4420638 was also significantly associated in a sensitivity analysis (P = 0.016) together with rs7679 (P = 0.027). 23555584 2013
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
0.710 GeneticVariation BEFREE The minor allele of rs4420638 (G) and the minor allele of rs157582 (T) showed associations with lower Mini-mental State Examination score, higher Alzheimer Disease Assessment Scale-cognitive subscale 11 score and smaller entorhinal volume using both baseline and longitudinal measurements, as well as with accelerated cognitive decline. 31760383 2019
Diabetes
CUI: C0011847
Disease: Diabetes
0.710 GeneticVariation BEFREE Following regression analysis adjusted by collection center, gender, duration of diabetes, and average HbA1c, two SNPs were significantly associated with DN. rs4420638 in the APOC1 region (odds ratio [OR] = 1.51; confidence intervals [CI]: 1.19-1.91; P = 0.001) and rs1532624 in CETP (OR = 0.82; CI: 0.69-0.99; P = 0.034); rs4420638 was also significantly associated in a sensitivity analysis (P = 0.016) together with rs7679 (P = 0.027). 23555584 2013
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
0.020 GeneticVariation BEFREE Significant interaction of APOE rs4420638 polymorphism with HDL-C and APOA-I levels in coronary heart disease in Han Chinese men. 26535656 2015
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
0.020 GeneticVariation BEFREE SNPs rs6700896 in LEPR (OR, 1.06; 95% CI, 1.02 to 1.09; per minor allele), rs4537545 in IL6R (OR, 0.94; 95% CI, 0.91 to 0.97), and rs4420638 in the APOE-CI-CII cluster (OR, 1.16; 95% CI, 1.12 to 1.21) were all associated with risk of coronary heart disease. 19567438 2009
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
0.010 GeneticVariation BEFREE The minor allele of rs4420638 (G) and the minor allele of rs157582 (T) showed associations with lower Mini-mental State Examination score, higher Alzheimer Disease Assessment Scale-cognitive subscale 11 score and smaller entorhinal volume using both baseline and longitudinal measurements, as well as with accelerated cognitive decline. 31760383 2019
Diabetic Nephropathy
CUI: C0011881
Disease: Diabetic Nephropathy
0.010 GeneticVariation BEFREE Following regression analysis adjusted by collection center, gender, duration of diabetes, and average HbA1c, two SNPs were significantly associated with DN. rs4420638 in the APOC1 region (odds ratio [OR] = 1.51; confidence intervals [CI]: 1.19-1.91; P = 0.001) and rs1532624 in CETP (OR = 0.82; CI: 0.69-0.99; P = 0.034); rs4420638 was also significantly associated in a sensitivity analysis (P = 0.016) together with rs7679 (P = 0.027). 23555584 2013
Polycystic Ovary Syndrome
CUI: C0032460
Disease: Polycystic Ovary Syndrome
0.010 GeneticVariation BEFREE However, the rs4420638 G allele was related to increased serum luteinizing hormone, cholesterol and apoB levels, and the ratio of apoB to apoA1 (P < 0.05), and the -317H1H1 genotype was associated with a higher acne grade score and a higher ratio of apoB-PAF-AH to H-PAF-AH activity (P < 0.05) in patients with PCOS. 29636060 2018
Polycystic Ovary Syndrome
CUI: C0032460
Disease: Polycystic Ovary Syndrome
0.010 GeneticVariation BEFREE The apoC1 rs4420638A/G and -317H1/H2 gene variants might be involved in endocrine abnormalities of reproductive axis, metabolic abnormalities and chronic inflammation in PCOS, although no association was observed between the apoC1 genetic variants and the risk of PCOS in Chinese women. 29636060 2018
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.010 GeneticVariation BEFREE Among them, 2 SNP, rs688 and rs4420638, were more prevalent in patients with RA than in controls. 23588940 2013
Obesity
CUI: C0028754
Disease: Obesity
0.010 GeneticVariation BEFREE In genetic association studies adjusted for age, BMI SDS and sex, we identified significant associations for rs599839 near SORT1 with TC and LDL-C and for rs4420638 near APOE with TC and LDL-C. We performed Bayesian modelling of the combined lipid phenotype of HDL-C, LDL-C and TG to identify potentially causal polygenic effects on this multi-dimensional phenotype and considering obesity, age and sex as a-priori modulating factors. 26375028 2015
Alzheimer Disease, Late Onset
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
0.010 GeneticVariation BEFREE SNP rs4420638 on chromosome 19, located 14 kilobase pairs distal to the APOE epsilon variant, significantly distinguished between AD cases and controls (Bonferroni corrected p value = 5.30 x 10(-34), OR = 4.01) and was far more strongly associated with the risk of AD than any other SNP of the 502,627 tested. 17474819 2007
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.820 GeneticVariation GWASCAT Genome-wide association analysis of age-at-onset in Alzheimer's disease. 22005931 2012
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.820 GeneticVariation GWASCAT A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease. 17474819 2007
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.820 GeneticVariation GWASCAT Sorl1 as an Alzheimer's disease predisposition gene? 17975299 2008
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.820 GeneticVariation GWASCAT Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases. 27790247 2016
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.820 GeneticVariation GWASCAT Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities. 30636644 2019
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.820 GeneticVariation GWASCAT Genome-wide association study of Alzheimer's disease. 22832961 2012