rs1001179

Chromosome : 11 , Position: 34438684
Most conditions are affected by anywhere from hundreds to millions of genetic variants (SNPs). A single SNP usually has a minor contribution to a person’s overall genetic risk for a certain condition. That is why you shouldn't consider or act on a SNP in isolation. Instead, we use SNPs to determine polygenic risk scores (PRSs), which are the basis of most health reports.
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Reference AlleleC
Alternative Alleles:  T

Summary

A study of non-Hispanic Caucasians with various types of brain tumors concluded that there was an decreased risk of acoustic neuroma (odds ratio 0.6, CI: 0.3-1.0) associated with the rs1001179(A) allele, as oriented in dbSNP orientation (and not as published).[PMID 18682580]


[PMID 19863340] Influence of the polymorphism in candidate genes on late cardiac damage in patients treated due to acute leukemia in childhood


[PMID 20110814] Air pollution and homocysteine: more evidence that oxidative stress-related genes modify effects of particulate air pollution



[PMID 21795425] Genetic Variation in Myeloperoxidase Modifies the Association of Serum {alpha}-Tocopherol with Aggressive Prostate Cancer among Current Smokers


[PMID 21338322] Parameters of oxidative stress, DNA damage and DNA repair in type 1 and type 2 diabetes mellitus


[PMID 22712453] Effects of rs769217 and rs1001179 polymorphisms of catalase gene on blood catalase, carbohydrate and lipid biomarkers in diabetes mellitus


[PMID 16385446] A testing framework for identifying susceptibility genes in the presence of epistasis.


[PMID 16453382] No evidence for a major effect of two common polymorphisms of the catalase gene in type 1 diabetes susceptibility.


[PMID 16820586] Inflammatory gene polymorphisms and risk of postoperative myocardial infarction after cardiac surgery.


[PMID 18248894] Short arm of chromosome 11 and sporadic Alzheimer’s disease: catalase and cathepsin D gene polymorphisms.


[PMID 18483329] Effect modification by catalase genotype suggests a role for oxidative stress in the association of hormone replacement therapy with postmenopausal breast cancer risk.


[PMID 18606005] Detection of catalase as a major protein target of the lipid peroxidation product 4-HNE and the lack of its genetic association as a risk factor in SLE.


[PMID 18988661] Glutathione-S-transferase (GST) P1, GSTM1, exercise, ozone and asthma incidence in school children.


[PMID 19505917] Lead exposure, polymorphisms in genes related to oxidative stress, and risk of adult brain tumors.


[PMID 20049130] Black carbon exposure, oxidative stress genes, and blood pressure in a repeated-measures study.


[PMID 20445800] Genetic Polymorphisms in Genes Related to Oxidative Stress (GSTP1, GSTM1, GSTT1, CAT, MnSOD, MPO, eNOS) and Survival of Rectal Cancer Patients after Radiotherapy.




[PMID 23961996] A catalase promoter variant rs1001179 is associated with visual acuity but not with primary angle closure glaucoma in Saudi patients


[PMID 23363810] Prostate disease risk factors among a New Zealand cohort


[PMID 24215654] Analysis of Catalase SNP rs1001179 in Saudi patients with Primary Open Angle Glaucoma


[PMID 23053794] Polymorphisms in oxidative stress genes, physical activity, and breast cancer risk.


[PMID 23325794] Genetic polymorphisms in catalase and CYP1B1 determine DNA adduct formation by benzo(a)pyrene ex vivo.


[PMID 25248722] Genetic Polymorphism of CAT C-262 T and Susceptibility to Breast Cancer, a Case-Control Study and Meta-Analysis of the Literatures


[PMID 25573779] Host genetic variations in glutathione-S-transferases, superoxide dismutases and catalase genes influence susceptibility to malaria infection in an Indian population


[PMID 24517502] Gene variants encoding proteins involved in antioxidant defense system and the clinical expression of Wilson disease

More Information

Mechanism:

  • T = Decreased transcription of the catalase gene [R]

  • C = Increased transcription of the catalase gene [R]

The Minor "T" allele is associated with:

  • Decreased acoustic neuroma (noncancerous tumor in nerve leading from ear to brain) risk in non-Hispanic whites [R]

  • Increased chance of cardiac damage after exposure to anthracyclines [R]

  • An increased risk of type-2 diabetes [R]

  • Increased risk of myocardial infarction following cardiac surgery [R]

  • Increased risk of death from rectal cancer following radiotherapy [R]

  • Increased visual acuity [R]

The Major "C" allele is associated with:

  • Increased acoustic neuroma (noncancerous tumor in nerve leading from ear to brain) risk in non-Hispanic whites [R]

  • A decreased risk of type-2 diabetes [R]

  • Decreased risk of myocardial infarction following cardiac surgery [R]

  • Decreaseed risk of death from rectal cancer following radiotherapy [R]

  • Decreased visual acuity [R]

This SNP is associated with (unknown  which alleles):

  • Decreased susceptibility to the effects of particulate air pollution [R]

  • Increased risk of breast cancer [R]

  • Increase susceptibility to malaria infection in the Indian population [R]

Increase clinical expression of Wilson’s Disease [R]

Population Alleles Frequency

ethhicity frequency
African/African-American 0.0416
Latino/Admixed American 0.112
Ashkenazi Jewish 0.2188
East Asian 0.0346
European 0.2183
Other (population not assigned) 0.2242

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