rs1695

influences asthma risk

plus

Geno	Mag	Summary
(A;A)	0	normal asthma risk in certain populations
(A;G)		?
(G;G)	2.1	3.5x asthma risk in certain populations

Reference

GRCh38 38.1/141

Chromosome

11

Position

67585218

Gene

GSTP1

is a	snp
is	mentioned by
dbSNP	rs1695
dbSNP (classic)	rs1695
ClinGen	rs1695
ebi	rs1695
HLI	rs1695
Exac	rs1695
Gnomad	rs1695
Varsome	rs1695
LitVar	rs1695
Map	rs1695
PheGenI	rs1695
Biobank	rs1695
1000 genomes	rs1695
hgdp	rs1695
ensembl	rs1695
geneview	rs1695
scholar	rs1695
google	rs1695
pharmgkb	rs1695
gwascentral	rs1695
openSNP	rs1695
23andMe	rs1695
SNPshot	rs1695
SNPdbe	rs1695
MSV3d	rs1695
GWAS Ctlg	rs1695

Merged from

0.3246

2.1

(A;A) (A;G) (G;G)

28

This SNP, in the GSTP1 gene influences asthma risk; the (A) allele encodes the Ile, while the (G) allele encodes the Val. This SNP is also known as GSTP1Val105, or GSTP1 Ile105Val.

Despite evidence of antioxidant effects of vitamin E in vitro and in animal studies, large, randomized clinical trials have not substantiated a benefit of vitamin E in reducing inflammation in humans. In healthy control subjects, the effect of α-tocopherol supplementation on the production of inflammatory cytokines appears to be dependent on an individual's genotype. These genotype-specific differences may help explain some of the discordant results in studies that used vitamin E. Persons having the alleles AA or AG had an increase in interleukin-6 (IL-6) upon supplementing alpha-tocopherol (the most common form of Vitamin E in a North American diet) while those with GG saw a decrease. [PMID 22572643]

This research paper shows that 13- to 21-year-olds exposed to tobacco smoke at home, with this mutation had more severe asthma than those without the mutation. rs1695 is also mentioned in this bbc article

Several papers published findings associating GSTP1 Ile105Val genotypes with bronchial, childhood, or atopic asthma. [PMID 15612961]

Note that some studies, however, have not observed any association between this SNP and asthma in certain populations [PMID 16176403], or even more paradoxically, have observed that rs1695(G;G) homozygotes appear to be somewhat protected (OR 0.29) from developing asthma compared to individuals with rs1695(A;G) or (A;A) genotypes. [PMID 14748821 ]

A cohort of 1,610 children in the US were studied to determine that the risk for new-onset asthma was highest in rs1695(A;A) homozygotes who participated in 3 or more sports in high-ozone communities. These children were at 6x higher risk (CI: 2.2-7.4). [PMID 18988661 ]

A study of 3,000 Chinese women with breast cancer concluded that rs1695(G;G) genotype was significantly associated with greater breast cancer risk, particularly in premenopausal women (odds ratio 1.69, CI: 1.17-2.43). The odds increased further if such women reported eating little cruciferous vegetables (then the odds ratio was 2.08, CI: 1.20-3.59).[PMID 18326615]

A relatively small study of 58 patients with different types of cancer receiving docetaxel concluded that rs1695(A;A) homozygotes (i.e. Ile105/Ile105 homozygotes) had a higher risk of developing docetaxel-induced peripheral neuropathy (DIPN), particularly grade 2 or higher. The odds ratio reported was 6.1 (CI: 1.17-31.9, p=0.03).[PMID 19223573]

[PMID 19383894 ] Genetic Polymorphisms in the Catechol Estrogen Metabolism Pathway and Breast Cancer Risk

[PMID 19403501] In Utero Smoke Exposure, Glutathione S-Transferase P1 Haplotypes, and Respiratory Illness-Related Absence Among Schoolchildren

[PMID 19921428 ] Pooled analysis indicates that the GSTT1 deletion, GSTM1 deletion, and GSTP1 Ile105Val polymorphisms do not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers

[PMID 20472488] GST polymorphisms, interaction with smoking and pesticide use, and risk for Parkinson's disease in a Japanese population

[PMID 21320344 ] Evaluation of genetic susceptibility to childhood allergy and asthma in an African American urban population

[PMID 20938339] Temozolomide-induced severe myelosuppression: analysis of clinically associated polymorphisms in two patients

[PMID 21164266] Glucocorticoid resistance

[PMID 21567099] Estrogen metabolism genotypes, use of long-term hormone replacement therapy and risk of postmenopausal breast cancer

[PMID 21723269] Genetic profiling of GSTP1, DPYD, FCGR2A, FCGR3A and CCND1 genes in an Argentinian population

[PMID 22052985] Glutathione S-transferase P1 c.313A > G polymorphism could be useful in the prediction of doxorubicin response in breast cancer patients

[PMID 22216261 ] Association of a Deletion of GSTT2B with an Altered Risk of Oesophageal Squamous Cell Carcinoma in a South African Population: A Case-Control Study

[PMID 21914837 ] Childhood brain tumors and maternal cured meat consumption in pregnancy: differential effect by glutathione S-transferases

[PMID 22795327] Selected polymorphisms of GSTP1 and TERT were associated with glioma risk in Han Chinese

[PMID 15726497 ] Gene-environment interaction effects on the development of immune responses in the 1st year of life.

[PMID 16112301 ] NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the Spanish Bladder Cancer Study and meta-analyses.

[PMID 17054776 ] The genetics of chronic obstructive pulmonary disease.

[PMID 17160896 ] Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants.

[PMID 17194543 ] Glutathione S-transferase mu, omega, pi, and theta class variants and smoking in Parkinson's disease.

[PMID 17366837 ] Genetic studies of a cluster of acute lymphoblastic leukemia cases in Churchill County, Nevada.

[PMID 17424838] [Genetic polymorphisms of MPO, NQO1, GSTP1, UGT1A6 associated with susceptibility of chronic benzene poisoning].

[PMID 17498780] The influence of metabolic gene polymorphisms on urinary 1-hydroxypyrene concentrations in Chinese coke oven workers.

[PMID 17548691 ] Associations between smoking, polymorphisms in polycyclic aromatic hydrocarbon (PAH) metabolism and conjugation genes and PAH-DNA adducts in prostate tumors differ by race.

[PMID 17601350 ] A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.

[PMID 17885617] Genetic polymorphisms and benzene metabolism in humans exposed to a wide range of air concentrations.

[PMID 18182569 ] Pharmacogenetics of minimal residual disease response in children with B-precursor acute lymphoblastic leukemia: a report from the Children's Oncology Group.

[PMID 18191955 ] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.

[PMID 18335111 ] Glutathione S-transferase P1, maternal smoking, and asthma in children: a haplotype-based analysis.

[PMID 18547414 ] Genotyping panel for assessing response to cancer chemotherapy.

[PMID 18559526 ] Glutathione s-transferase p1: gene sequence variation and functional genomic studies.

[PMID 18601742 ] Polymorphisms of selected xenobiotic genes contribute to the development of papillary thyroid cancer susceptibility in Middle Eastern population.

[PMID 18628428 ] Polymorphisms in genes involved in sex hormone metabolism, estrogen plus progestin hormone therapy use, and risk of postmenopausal breast cancer.

[PMID 18709160 ] Interactions between glutathione S-transferase P1, tumor necrosis factor, and traffic-related air pollution for development of childhood allergic disease.

[PMID 18776599 ] Susceptibility genes for gentamicin-induced vestibular dysfunction.

[PMID 18784359] Polymorphisms in phase I and phase II metabolism genes and risk of chronic benzene poisoning in a Chinese occupational population.

[PMID 18787887 ] Genetic variation in candidate osteoporosis genes, bone mineral density, and fracture risk: the study of osteoporotic fractures.

[PMID 18805939 ] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.

[PMID 18854777 ] Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy.

[PMID 18992148 ] Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.

[PMID 19076156 ] Polymorphisms of drug-metabolizing enzymes (GST, CYP2B6 and CYP3A) affect the pharmacokinetics of thiotepa and tepa.

[PMID 19124514 ] Urinary isothiocyanates; glutathione S-transferase M1, T1, and P1 polymorphisms; and risk of colorectal cancer: the Multiethnic Cohort Study.

[PMID 19131562 ] Biomarkers of human exposure to acrylamide and relation to polymorphisms in metabolizing genes.

[PMID 19174490 ] Tobacco and estrogen metabolic polymorphisms and risk of non-small cell lung cancer in women.

[PMID 19223546 ] Xenobiotic metabolizing gene variants, dietary heterocyclic amine intake, and risk of prostate cancer.

[PMID 19258736] Glutathione s-transferase variants in a brazilian population.

[PMID 19267064] [Relationship between genetic polymorphisms of phase I and phase II metabolizing enzymes and DNA damage of workers exposed to vinyl chloride monomer].

[PMID 19338043 ] Genetic polymorphisms in glutathione S-transferases and cytochrome P450s, tobacco smoking, and risk of non-Hodgkin lymphoma.

[PMID 19498054 ] Prenatal tobacco smoke exposure affects global and gene-specific DNA methylation.

[PMID 19568750 ] MRP2 and GSTP1 polymorphisms and chemotherapy response in advanced non-small cell lung cancer.

[PMID 19899130] Polymorphisms of drug-metabolizing genes and risk of non-Hodgkin lymphoma.

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

[PMID 20049212 ] Traffic-related air pollution, oxidative stress genes, and asthma (ECHRS).

[PMID 20091863] Genetic polymorphisms of MPO, GSTT1, GSTM1, GSTP1, EPHX1 and NQO1 as risk factors of early-onset lung cancer.

[PMID 20233420 ] Cluster analysis in severe emphysema subjects using phenotype and genotype data: an exploratory investigation.

[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 20459744 ] Cyclophosphamide-metabolizing enzyme polymorphisms and survival outcomes after adjuvant chemotherapy for node-positive breast cancer: a retrospective cohort study.

[PMID 20540773 ] The 341C/T polymorphism in the GSTP1 gene is associated with increased risk of oesophageal cancer.

[PMID 20597111 ] Effect of interactions of glutathione S-transferase T1, M1, and P1 and HMOX1 gene promoter polymorphisms with heavy smoking on the risk of rheumatoid arthritis.

[PMID 20663217 ] Genetic Polymorphisms of CYP2E1, GSTP1, NQO1 and MPO and the Risk of Nasopharyngeal Carcinoma in a Han Chinese Population of Southern China.

[PMID 21595856] Genetic polymorphisms in antioxidative enzymes are associated to forced expiratory volume in 1 s (FEV1) in smokers independently of asthma.

[PMID 21669193] GSTP1 mRNA expression in human circulating blood leukocytes is associated with GSTP1 genetic polymorphism.

[PMID 21741876] Polymorphisms in tobacco metabolism and DNA repair genes modulate oral precancer and cancer risk.

[PMID 22251241] Role of glutathione S-transferases in melanoma susceptibility: association with GSTP1 rs1695 polymorphism.

[PMID 22475179] Polymorphisms in genes encoding interleukin-10 and drug metabolizing enzymes GSTP1, GSTT1, GSTA1 and UGT1A1 influence risk and outcome in Hodgkin lymphoma.

[PMID 22525558] Genetic polymorphisms involved in carcinogen metabolism and DNA repair and lung cancer risk in a Japanese population.

[PMID 22531667] PM10-induced hospital admissions for asthma and chronic obstructive pulmonary disease: the modifying effect of individual characteristics.

[PMID 22661588 ] Antioxidant enzyme polymorphisms and neuropsychological outcomes in medulloblastoma survivors: a report from the Childhood Cancer Survivor Study.

[PMID 23136956] The role of Glutathione S-Transferase (GST) and Claudin-1 (CLDN1) gene polymorphisms in contact sensitization: a cross-sectional study

[PMID 23146971 ] Glutathione-S-transferase (GST) polymorphisms are associated with relapse after radical prostatectomy

[PMID 24083102 ] Associations between null mutations in GSTT1 and GSTM1, the GSTP1 Ile(105)Val polymorphism, and mortality in breast cancer survivors

[PMID 24367646 ] Novel single nucleotide polymorphism markers for low dose aspirin-associated small bowel bleeding

[PMID 24423050 ] Associations between GSTM1*0 and GSTA1*A genotypes with the risk of cardiovascular death among hemodialyses patients

[PMID 24453034] Association study of SNPs of genes IFNGR1 (rs137854905), GSTT1 (rs71748309), and GSTP1 (rs1695) in gastric cancer development in samples of patient in the northern and northeastern Brazil

[PMID 24465030 ] GSTP1 and TNF Gene Variants and Associations between Air Pollution and Incident Childhood Asthma: The Traffic, Asthma and Genetics (TAG) Study

[PMID 24610081] Associations Between SNPs Within Antioxidant Genes and the Risk of Prostate Cancer in the Siberian Region of Russia

[PMID 22487578] Association of glutathione S-transferase pi isoform single-nucleotide polymorphisms with exudative age-related macular degeneration in a Chinese population.

[PMID 22517484] Clinical significance of SOD2 and GSTP1 gene polymorphisms in Chinese patients with gastric cancer.

[PMID 22610343 ] Genetic variants in antioxidant genes are associated with diisocyanate-induced asthma.

[PMID 22735619] Sample-to-SNP kit: a reliable, easy and fast tool for the detection of HFE p.H63D and p.C282Y variations associated to hereditary hemochromatosis.

[PMID 22868256 ] A prospective validation pharmacogenomic study in the adjuvant setting of colorectal cancer patients treated with the 5-fluorouracil/leucovorin/oxaliplatin (FOLFOX4) regimen.

[PMID 23000097] Polymorphisms of catechol estrogens metabolism pathway genes and breast cancer risk in Mexican women.

[PMID 23065688 ] Glutathione S-transferase P1 single nucleotide polymorphism predicts permanent ototoxicity in children with medulloblastoma.

[PMID 23175176 ] Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.

[PMID 23333443] Analysis of polymorphisms and haplotypes in genes associated with vascular tone, hypertension and oxidative stress in Mexican-Mestizo women with severe preeclampsia.

[PMID 23812950] Pharmacogenetic influence of GST polymorphisms on anthracycline-based chemotherapy responses and toxicity in breast cancer patients: a multi-analytical approach.

[PMID 24786234 ] HapMap-based study on the association between MPO and GSTP1 gene polymorphisms and lung cancer susceptibility in Chinese Han population

[PMID 24902621] Deletion polymorphism of GSTT1 gene as protective marker for allergic rhinitis

[PMID 24919441 ] Polymorphisms of NRF2 and NRF2 target genes in urinary bladder cancer patients

[PMID 25008867] Pharmacogenetic association between GSTP1 genetic polymorphism and febrile neutropenia in Japanese patients with early breast cancer

[PMID 25188725] Dual Glutathione S-transferase theta 1 (GSTT1) and mu 1 (GSTM1) gene deletions determine imatinib failure in chronic myeloid leukaemia

[PMID 25677905] Effect of GSTP1 and ABCC4 gene polymorphisms on response and toxicity of cyclophosphamide-epirubicin-5-fluorouracil-based chemotherapy in Bangladeshi breast cancer patients

[PMID 25799091] Polymorphic variants of GSTM1, GSTT1, and GSTP1 genes in childhood acute leukemias: A preliminary study in Argentina

[PMID 25901207 ] SOD2 rs4880 CT/CC genotype predicts poor survival for Chinese gastric cancer patients received platinum and fluorouracil based adjuvant chemotherapy

[PMID 26046522 ] Modifying Role of GSTP1 Polymorphism on the Association between Tea Fluoride Exposure and the Brick-Tea Type Fluorosis

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

[PMID 26314858] Influences of ERCC1, ERCC2, XRCC1, GSTP1, GSTT1, and MTHFR polymorphisms on clinical outcomes in gastric cancer patients treated with EOF chemotherapy

[PMID 26407578] Relevance of GSTM1, GSTT1 and GSTP1 Gene Polymorphism to Breast Cancer Susceptibility in Mizoram Population, Northeast India

[PMID 26396136] Transformation of alkylating regimen of thiotepa into tepa determines the disease progression through GSTP1 gene polymorphism for metastatic breast cancer patients receiving thiotepa containing salvage chemotherapy.

[PMID 26862484 ] Polymorphisms of glutathione S-transferase and methylenetetrahydrofolate reductase genes in Moldavian patients with ulcerative colitis: Genotype-phenotype correlation.

ClinVar
Risk	Rs1695(G;G)
Alt	Rs1695(G;G)
Reference	Rs1695(A;A)
Significance	Drug-response
Disease	fluorouracil and oxaliplatin response - Efficacy cyclophosphamide and epirubicin response - Efficacy Platinum compounds response - Toxicity/ADR Colorectal Neoplasms
Variation	info
Gene	GSTP1
CLNDBN	fluorouracil and oxaliplatin response - Efficacy cyclophosphamide and epirubicin response - Efficacy, Toxicity/ADR Platinum compounds response - Toxicity/ADR Colorectal Neoplasms
Reversed	0
HGVS	NC_000011.9:g.67352689A>G
CLNSRC	PharmGKB Clinical Annotation
CLNACC	RCV000211146.1, RCV000211269.1, RCV000211325.1, RCV000437330.1,

[PMID 27729156] Analysis of genetic and non genetic risk factors for cisplatin ototoxicity in pediatric patients.

[PMID 27825163] Effects of GSTP1 and GPX1 Polymorphisms on the Risk of Preeclampsia in Chinese Han Women.

[PMID 28152281 ] Glutathione-S-transferase P1 may predispose children to a decline in pulmonary function after stem cell transplant.

[PMID 28153749] Energy landscape of a GSTP1 polymorph linked with cytological function decay in response to chemical stressors.

[PMID 28735743] Exposure to meat-derived carcinogens and bulky DNA adduct levels in normal-appearing colon mucosa.

[PMID 28872562] GPX1 Pro198Leu polymorphism and GSTP1 Ile105Val polymorphisms are not associated with the risk of schizophrenia in the Chinese Han population.

[PMID 29434449 ] Impact of SNP-SNP interactions of DNA repair gene ERCC5 and metabolic gene GSTP1 on gastric cancer/atrophic gastritis risk in a Chinese population.

[PMID 29505746] Association of N-acetyltransferase-2 and glutathione S-transferase polymorphisms with idiopathic male infertility in Vietnam male subjects.

[PMID 31886888] Evaluation of polymorphisms in repair and detoxification genes in alcohol drinkers and non-drinkers using capillary electrophoresis.

[PMID 32185238 ] Haplotype Analysis of Candidate Genes Involved in Inflammation and Oxidative Stress and the Susceptibility to Preeclampsia.

[PMID 32183092 ] GSTP1 rs1138272 Polymorphism Affects Prostate Cancer Risk.

[PMID 32306675] [Association between GSTP1 gave polymorphisms and susceptibility to noise-induced hearing loss].

[PMID 32306671] [Association between GSTP1 gene polymorphisms and susceptibility to noise-induced hearing loss].

[PMID 32541641 ] Lower Platelet Aggregation Is a Risk Factor for Dual Antiplatelet Therapy-Associated Bleeding: A Preliminary Retrospective Study with Genotype Analysis.

[PMID 32712936] CYP1A1 and GSTs common gene variations and presbycusis risk: a genetic association analysis and a bioinformatics approach.

[PMID 33264651] Single-nucleotide polymorphisms (SNPs) of antioxidant enzymes SOD2 and GSTP1 genes and SLE risk and severity in an Egyptian pediatric population.

[PMID 33326171 ] GSTP1 and ABCB1 Polymorphisms Predicting Toxicities and Clinical Management on Carboplatin and Paclitaxel-Based Chemotherapy in Ovarian Cancer.