Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2284367
rs2284367
CAT
CUI: C0523550
Disease: Catalase measurement
Catalase measurement
C 0.700 GeneticVariation GWASCAT Connecting genetic risk to disease end points through the human blood plasma proteome. 28240269

2017

dbSNP: rs7933285
rs7933285
CAT
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
C 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576

2018

dbSNP: rs1001179
rs1001179
CAT
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
0.020 GeneticVariation BEFREE However, no association was found for rs1001179 and rs7943316 with POAG. 28829657

2018

dbSNP: rs1001179
rs1001179
CAT
Diabetes Mellitus, Insulin-Dependent
0.020 GeneticVariation BEFREE There was no significant association between the CAT gene SNP rs1001179 and T1D or DPN. 29924645

2018

dbSNP: rs1001179
rs1001179
CAT
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 GeneticVariation BEFREE Here, we investigated the effect of MnSOD (p.Val16Ala, rs4880) and CAT (-262C>T, rs1001179) SNPs on the association between the MD and BC risk in the case-control study of BC MASTOS in Cyprus. 26130326

2016

dbSNP: rs1001179
rs1001179
CAT
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.020 GeneticVariation BEFREE Here, we investigated the effect of MnSOD (p.Val16Ala, rs4880) and CAT (-262C>T, rs1001179) SNPs on the association between the MD and BC risk in the case-control study of BC MASTOS in Cyprus. 26130326

2016

dbSNP: rs1001179
rs1001179
CAT
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
0.020 GeneticVariation BEFREE Analysis of catalase SNP rs1001179 in Saudi patients with primary open angle glaucoma. 24215654

2013

dbSNP: rs1001179
rs1001179
CAT
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.020 GeneticVariation BEFREE Highly active women harboring variant alleles in CAT rs1001179 were at increased risk of breast cancer compared with women with the common CC genotype (OR = 1.61; 95 % CI, 1.06-2.45). 23053794

2012

dbSNP: rs1001179
rs1001179
CAT
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 GeneticVariation BEFREE Highly active women harboring variant alleles in CAT rs1001179 were at increased risk of breast cancer compared with women with the common CC genotype (OR = 1.61; 95 % CI, 1.06-2.45). 23053794

2012

dbSNP: rs1001179
rs1001179
CAT
Diabetes Mellitus, Insulin-Dependent
0.020 GeneticVariation BEFREE Major effects of two SNPs, C1167T (rs769217) and C(-262)T (rs1001179), of the catalase gene on T1D susceptibility have been reported previously in Russians from Moscow. 16453382

2006

dbSNP: rs1212131663
rs1212131663
CAT
CUI: C0268419
Disease: Acatalasia
Acatalasia
0.020 GeneticVariation BEFREE This method was sensitive for detection of G113A acatalasemia mutation, but poorly detected C37T and G5A acatalasemia mutations. 22286031

2012

dbSNP: rs1212131663
rs1212131663
CAT
CUI: C0268419
Disease: Acatalasia
Acatalasia
0.020 GeneticVariation BEFREE The detection of a novel acatalasemia mutation (37C>T in exon 9) and the 113G>A (exon 9) mutation in Hungary are further proofs of genetic heterogeneity origin of acatalasemia mutations. 21947853

2012

dbSNP: rs1001179
rs1001179
CAT
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome
0.010 GeneticVariation BEFREE Furthermore, clinical-pharmacogenetic model for prediction of time to occurrence of dyskinesia included female sex (HR = 1.07), age at diagnosis (HR = 0.97), tremor-predominant Parkinson's disease (HR = 0.88), beta-blockers (HR = 0.95), alcohol consumption (HR = 0.99), time from diagnosis to initiation of levodopa treatment (HR = 1.15), <i>CAT</i> rs1001179 (HR = 1.27), <i>SOD2</i> rs4880 (HR = 0.95), <i>NOS1</i> rs2293054 (HR = 0.99), <i>COMT</i> rs165815 (HR = 0.92), and <i>SLC22A1</i> rs628031 (HR = 0.80). 31156712

2019

dbSNP: rs1001179
rs1001179
CAT
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.010 GeneticVariation BEFREE Furthermore, clinical-pharmacogenetic model for prediction of time to occurrence of dyskinesia included female sex (HR = 1.07), age at diagnosis (HR = 0.97), tremor-predominant Parkinson's disease (HR = 0.88), beta-blockers (HR = 0.95), alcohol consumption (HR = 0.99), time from diagnosis to initiation of levodopa treatment (HR = 1.15), <i>CAT</i> rs1001179 (HR = 1.27), <i>SOD2</i> rs4880 (HR = 0.95), <i>NOS1</i> rs2293054 (HR = 0.99), <i>COMT</i> rs165815 (HR = 0.92), and <i>SLC22A1</i> rs628031 (HR = 0.80). 31156712

2019

dbSNP: rs1001179
rs1001179
CAT
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.010 GeneticVariation BEFREE Genotyping of superoxide dismutase 1 (SOD1) + 35 A/C (rs2234694), catalase [A-21T (rs7943316), C-262T (rs1001179)] and glutathione peroxidase 1 (reduced glutathione (GSH)-Px1) 198Pro/Leu (rs1050450) was carried out in 143 patients with COPD and 216 healthy controls using PCR-RFLP. 30668180

2019

dbSNP: rs1001179
rs1001179
CAT
CUI: C0740447
Disease: Diabetic peripheral neuropathy
Diabetic peripheral neuropathy
0.010 GeneticVariation BEFREE The aim of our study was to investigate possible associations between three SNPs: rs4673 in the CYBA gene; rs1041740 in the SOD1 gene; and rs1001179 in the CAT gene, and type 1 diabetes (T1D) or diabetic peripheral neuropathy (DPN) in T1D patients. 29924645

2018

dbSNP: rs1001179
rs1001179
CAT
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.010 GeneticVariation BEFREE GPx1 (rs1050450), MnSOD (rs4880), and CAT (rs1001179) variants might not be a risk factor for PCOS. 30206965

2018

dbSNP: rs1001179
rs1001179
CAT
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.010 GeneticVariation BEFREE Although there was no independent association between either <i>CAT</i> rs1001179 or <i>hOGG1</i> rs1052133 polymorphism and malignant mesothelioma, interaction between both polymorphisms showed a protective effect, OR<sub>int</sub> 0.27 (95% CI 0.10-0.77). 29520212

2018

dbSNP: rs1001179
rs1001179
CAT
CUI: C0042900
Disease: Vitiligo
Vitiligo
0.010 GeneticVariation BEFREE The aims were (i) to assess erythrocyte CAT enzyme activity and lipid peroxidation (LPO) levels as well as CAT mRNA expression in skin and blood; (ii) to investigate CAT gene promoter rs7943316, rs1001179, 5'-untranslated region rs1049982, and exon (rs17886350, rs11032709, rs17880442, rs35677492) polymorphisms; and (iii) to perform genotype/haplotype-phenotype correlation analyses in patients with vitiligo and controls from Gujarat. 28542879

2017

dbSNP: rs1001179
rs1001179
CAT
CUI: C0085762
Disease: Alcohol abuse
Alcohol abuse
0.010 GeneticVariation BEFREE Using an established PCR-RFLP method for genotyping, we examined the association of rs1001179 with glycated hemoglobin (HbA1c) and plasma lipids using univariate analyses with age, sex, body mass index (BMI), smoking, and alcohol abuse as covariates, in a group of dyslipidemic patients from northern Greece. 27704307

2017

dbSNP: rs1001179
rs1001179
CAT
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
0.010 GeneticVariation BEFREE The aims were (i) to assess erythrocyte CAT enzyme activity and lipid peroxidation (LPO) levels as well as CAT mRNA expression in skin and blood; (ii) to investigate CAT gene promoter rs7943316, rs1001179, 5'-untranslated region rs1049982, and exon (rs17886350, rs11032709, rs17880442, rs35677492) polymorphisms; and (iii) to perform genotype/haplotype-phenotype correlation analyses in patients with vitiligo and controls from Gujarat. 28542879

2017

dbSNP: rs1001179
rs1001179
CAT
CUI: C0752304
Disease: Hypoxic-Ischemic Encephalopathy
Hypoxic-Ischemic Encephalopathy
0.010 GeneticVariation BEFREE CAT rs1001179 polymorphism could be used to identify children that have a higher susceptibility to cerebral palsy after perinatal HIE. 27302388

2016

dbSNP: rs1001179
rs1001179
CAT
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.010 GeneticVariation BEFREE This study aimed to investigate the association of genetic polymorphisms of CAT C-262T (rs1001179) and GPX1 Pro198Leu (rs1050450) with different stages of liver fibrosis and development of hepatocellular carcinoma (HCC). 26990426

2016

dbSNP: rs1001179
rs1001179
CAT
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 GeneticVariation BEFREE The results demonstrated that the rs1001179 polymorphism was associated with an increased cancer risk in the recessive and homozygote models (TT vs. CC: OR = 1.19, P = 0.01; TT vs. CT+CC: OR = 1.19, P <0.001). 27449288

2016

dbSNP: rs1001179
rs1001179
CAT
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.010 GeneticVariation BEFREE Furthermore, stratified analyses revealed a significant association between the rs1001179 polymorphism and prostate cancer in all models except the homozygote comparison. 27449288

2016