rs1001179
This variant is located in the CAT gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
protein measurement
▶ClinVar annotation
▶Research that mentions this SNP (4)
▶Genetic variation of FTO: rs1421085 T>C, rs8057044 G>A, rs9939609 T>A, and copy number (CNV) in Mexican Mayan school‐aged children with obesity/overweight and with normal weightReviewLizbeth González‐Herrera et al.(2019)· American Journal of Human Biology
A literature review of 70 studies examining single nucleotide polymorphisms (SNPs) associated with obesity in Mexican populations published 2011-2021. The authors identified SNPs with differential behavior in Mexican compared to Caucasian populations, including rs17782313 (MC4R), rs6548238 (TMEM18), rs6265 (BDNF), rs7498665 (SH2B1), and notably rs6232 (PCSK1) associated with early-onset obesity in Mexican youth. The review emphasizes ethnicity-dependent genetic effects on BMI heritability (40-70%) and highlights genes involved in cholesterol metabolism and adipokine signaling pathways.
▶Host genetic variations in glutathione-S-transferases, superoxide dismutases and catalase genes influence susceptibility to malaria infection in an Indian populationAssociationN=350Fernandes RC et al.(2015)· Molecular Genetics and Genomics
A case-control study of 200 malaria patients (100 P. vivax, 100 P. falciparum) and 150 healthy controls examined associations between polymorphisms in antioxidant enzyme genes and malaria susceptibility. GSTM1 deletion showed significant association with complicated P. vivax malaria (p=0.0007, OR=3.8, 95% CI 1.9-7.4). Polymorphisms in GSTP1 (rs1695), SOD1 (rs2234694), SOD2 (rs4880, rs1141718), SOD3 (rs2536512), and CAT (rs1001179) genes were also associated with malaria susceptibility, with SNP-SNP interactions identified through multifactor dimensionality reduction analysis.
▶Variability in Ethanol Biodisposition in Whites Is Modulated by Polymorphisms in the Adh1b and Adh1c GenesReviewCarmen Martínez et al.(2010)· Hepatology
A comprehensive review of nutrigenetics and nutrigenomics examining how genetic variants influence individual responses to nutrients and dietary interventions. The paper discusses associations between numerous SNPs (rs9939609 in FTO, rs2287019 in GIPR, rs7903146 in TCF7L2, rs5219 in KCNJ11, and many others) and metabolic traits including obesity, type 2 diabetes, and other chronic diseases, along with epigenetic mechanisms by which phytochemicals (curcumin, resveratrol, lycopene) modulate gene expression. The review synthesizes current evidence for precision nutrition approaches tailored to individual genetic profiles.
▶No evidence for a major effect of two common polymorphisms of the catalase gene in type 1 diabetes susceptibilityAssociationN=7,500Rebecca Pask et al.(2006)· Diabetes/Metabolism Research and Reviews
A large replication study of two catalase gene polymorphisms (rs769217 and rs1001179) in type 1 diabetes found no evidence for a major effect in 1642 families and 3530 case-control samples across multiple populations. Although limited statistical evidence was found for association at rs769217 in USA families (P=0.033, RR=1.23) and rs1001179 in UK families (P=0.046, RR=0.86), the authors conclude these are likely false positives.
About CAT
This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase converts the reactive oxygen species hydrogen peroxide to water and oxygen and thereby mitigates the toxic effects of hydrogen peroxide. Oxidative stress is hypothesized to play a role in the development of many chronic or late-onset diseases such as diabetes, asthma, Alzheimer's disease, systemic lupus erythematosus, rheumatoid arthritis, and cancers. Polymorphisms in this gene have been associated with decreases in catalase activity but, to date, acatalasemia is the only disease known to be caused by this gene. [provided by RefSeq, Oct 2009]
View all CAT variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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