Rs1695
| influences asthma risk |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1695 |
| nextbio | rs1695 |
| hapmap | rs1695 |
| 1000 genomes | rs1695 |
| hgdp | rs1695 |
| ensembl | rs1695 |
| gopubmed | rs1695 |
| scholar | rs1695 |
| rs1695 | |
| pharmgkb | rs1695 |
| gwascentral | rs1695 |
| openSNP | rs1695 |
| 23andMe | rs1695 |
| 23andMe all | rs1695 |
| SNP Nexus | |
| SNPshot | rs1695 |
| SNPdbe | rs1695 |
| MSV3d | rs1695 |
| Gene | GSTP1 |
| Merged from | Rs947894 |
| Chromosome | 11 |
| Orientation | plus |
| Position | 67352689 |
| Reference | GRCh37 37.1/131 |
| Max Magnitude | 2.1 |
| 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 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
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
| PharmGKB | PA165107196 |
| Name | GSTP1:Ile105Val, rs1695:A>G |
| Annotation | In a study of ovarian cancer patients (n=104) receiving a cisplatin-cyclophosphamide regimen, the Ile/Ile (G/G) genotype of GSTP1:Ile105Val was associated with increased progression free survival. |
| Gene | GSTP1 |
| Featue | Exon/NonSyn |
| Evidence | PubMed ID:19786980 |
| Drugs | cisplatin, cyclophosphamide |
| Diseases | Ovarian Neoplasms |
| Curation Level | Curated |
[PMID 20472488] GST polymorphisms, interaction with smoking and pesticide use, and risk for Parkinson's disease in a Japanese population
| PharmGKB | PA161145081 |
| Name | GSTP1:I105V, GSTP1:A313G, GSTP1*2, Part of haplotypes GSTP1*B and GSTP1*C |
| Annotation | Well studied variant for risk of many different cancers and environmental chemical metabolism. |
| Gene | GSTP1 |
| Featue | Exon/NonSyn |
| Evidence | PubMed ID:17180579; PubMed ID:17532303; PubMed ID:17617021; PubMed ID:17642299 |
| Drugs | |
| Diseases | |
| Curation Level | Curated |
| PharmGKB | PA161845838 |
| Name | GSTP1: I105V, GSTP1*B |
| Annotation | The non-synonymous SNP has been associated with reduced enzyme activity and anticancer drug resistance and toxicity. |
| Gene | GSTP1 |
| Featue | Exon/NonSyn |
| Evidence | Web Resource:http://www.pharmgkb.org/search/annotatedGene/gstp1/variant.jsp |
| Drugs | cisplatin, cyclophosphamide, doxorubicin, etoposide, oxaliplatin, pyrimethamine |
| Diseases | |
| Curation Level | In-Depth |
| PharmGKB | PA162355826 |
| Name | GSTP1:Ile105Val |
| Annotation | Elderly rectal cancer patients homozygous for the G (Val) allele of this SNP were less likely than those homozygous for the A (Ile) allele to experience hematological toxicity associated with chemoradiotherapy. |
| Gene | GSTP1 |
| Featue | Exon/NonSyn |
| Evidence | PubMed ID:18540691 |
| Drugs | fluorouracil |
| Diseases | Drug Toxicity |
| Curation Level | Curated |
[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