rs4420638, APOC1

N. diseases: 43
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
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
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
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
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
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
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
Waist-Hip Ratio
CUI: C0205682
Disease: Waist-Hip Ratio
0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
Waist-Hip Ratio
CUI: C0205682
Disease: Waist-Hip Ratio
0.700 GeneticVariation GWASCAT Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors. 30575882 2018
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation GWASCAT Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. 28869590 2017
Red cell distribution width determination
0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
RDW - Red blood cell distribution width result
0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
0.700 GeneticVariation GWASCAT Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases. 27790247 2016
Hematocrit procedure
CUI: C0018935
Disease: Hematocrit procedure
0.700 GeneticVariation GWASCAT Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases. 27790247 2016
Heart failure
CUI: C0018801
Disease: Heart failure
0.700 GeneticVariation GWASCAT Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases. 27790247 2016
Atrial Fibrillation
CUI: C0004238
Disease: Atrial Fibrillation
0.700 GeneticVariation GWASCAT Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases. 27790247 2016
Glucose measurement
CUI: C0337438
Disease: Glucose measurement
0.700 GeneticVariation GWASCAT Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases. 27790247 2016
Diastolic blood pressure
CUI: C0428883
Disease: Diastolic blood pressure
0.700 GeneticVariation GWASCAT Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases. 27790247 2016
Body mass index
CUI: C1305855
Disease: Body mass index
0.700 GeneticVariation GWASCAT Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases. 27790247 2016
Systolic Pressure
CUI: C0871470
Disease: Systolic Pressure
0.700 GeneticVariation GWASCAT Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases. 27790247 2016
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.700 GeneticVariation GWASCAT Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases. 27790247 2016
elevated blood glucose level
CUI: C0495706
Disease: elevated blood glucose level
0.700 GeneticVariation GWASCAT Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases. 27790247 2016
Body mass index procedure
CUI: C0005893
Disease: Body mass index procedure
0.700 GeneticVariation GWASCAT The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. 26426971 2015