Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


rs140310

Hard Link
rs140310 is a snp on gene GSTT1 (glutathione S-transferase theta 1)

GeneGSTT1 Chromosome number 22 Chromosome position NaN
Alleles C/T Minor Allele C Minor Allele Frequency 0.1659
Notation Clinical significance Orientation (dbSNP) + (positive/forward strand)
Gene Function
The protein encoded by this gene, glutathione S-transferase (GST) theta 1 (GSTT1), is a member of a superfamily of proteins that catalyze the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds. Human GSTs can be divided into five main classes: alpha, mu, pi, theta, and zeta. The theta class includes GSTT1, GSTT2, and GSTT2B. GSTT1 and GSTT2/GSTT2B share 55% amino acid sequence identity and may play a role in human carcinogenesis. The GSTT1 gene is haplotype-specific and is absent from 38% of the population. Alternative splicing of this gene results in multiple transcript variants. Studies of various cancers and treatments and the GSTT1 null variant have shown mixed and contradictory results. While the lack of GSTT1 may increase the efficacy of some cytotoxic drugs towards cancer cells due to a reduction in their elimination from the cell, it could also be hypothesized that GSTT1 null individuals might have a poorer prognosis (1) [PMID 22643671]. Known substrates of GSTT1 include amoxicillin, carboplatin, cisplatin, etoposide, isoniazid, platinum compounds, troglitazone and xenobiotics. One detoxification mechanism, the glutathione S-transferase (GSTs) pathway exhibits polymorphisms leading to variability to metabolize environmental carcinogens. Cytosolic glutathione S-transferase enzymes (GSTs) may detoxify many of the potent environmental carcinogens, such as polycyclic aromatic hydrocarbons (PAHs). GSTs convert the activated chemicals or drugs into non-reactive and water-soluble products via hydroxylation, reduction, and oxidation reactions. The polymorphic variants of GSTT1 and GSTM1 have complete gene deletions, which result in the lack of active protein. Also individuals with the GSTM1 null genotype and GSTP1*B allelic variant have significantly high levels of hydrophobic DNA adducts.(2) 1. Thorn CF, Ji Y, Weinshilboum RM, Altman RB, Klein TE. PharmGKB summary: very important pharmacogene information for GSTT1. Pharmacogenet Genomics. 2012 Aug;22(8):646-51. doi: 10.1097/FPC.0b013e3283527c02. PubMed PMID: 22643671; PubMed Central PMCID: PMC3395771. 2. Aydin-Sayitoglu M, Hatirnaz O, Erensoy N, Ozbek U. Role of CYP2D6, CYP1A1, CYP2E1, GSTT1, and GSTM1 genes in the susceptibility to acute leukemias. Am J Hematol. 2006 Mar;81(3):162-70. PubMed PMID: 16493615.
This SNP is reported by one or more services.


23andme V3

NOT REPORTED




23andme V4

REPORTED




23andme V5

NOT REPORTED




Ancestry DNA

NOT REPORTED




Genos Export for Promethease

NOT REPORTED




Opus 23 Curated

NOT CURATED




CLINVAR Curated

NOT CURATED




GWAS Curated

NOT CURATED





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