title: Rare alleles within the CYP2E1 (MEOS system) could be associated with better short-term health outcome after acute methanol poisoning.
abstract: Genetic polymorphisms influence the metabolism of ethanol and methanol, but the potential effects of genetic predisposition on the clinical course, outcome and short-term health sequelae of acute methanol poisoning are unknown. To evaluate the role of the MEOS system in methanol poisoning, we analysed the effect of three polymorphisms (RsaI - rs2031920; PstI - rs3813867; insertion/deletion I/D) within the CYP2E1 enzyme (MEOS system) in 50 adult survivors of methanol poisoning and compared their genotype frequencies with 460 controls. The minor allele frequencies of all three polymorphisms were below 5% in both groups. We did not detect significant differences in the genotype frequencies between survivors of methanol poisoning and controls (p = 0.34 for the RsaI variant; p = 0.59 for the PstI variant and p = 0.21 for the I/D polymorphism). The carriers of at least one minor allele in the CYP2E1 gene had less severe clinical symptoms and better short-term outcome after acute poisoning. Variants within the CYP2E1 gene are likely not significant genetic determinants of acute methanol poisoning (if survivors are analysed), but they may influence the severity of methanol poisoning and its visual/central nervous system (CNS) outcome.
authors.affiliation: Centre for Experimental Medicine, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
authors.forename: Jaroslav A
authors.initials: JA
authors.lastname: Hubacek
authors.forename: Daniela
authors.initials: D
authors.lastname: Pelclova
authors.forename: Zdenek
authors.initials: Z
authors.lastname: Seidl
authors.forename: Manuela
authors.initials: M
authors.lastname: Vaneckova
authors.forename: Jiri
authors.initials: J
authors.lastname: Klempir
authors.forename: Evzen
authors.initials: E
authors.lastname: Ruzicka
authors.forename: Petr
authors.initials: P
authors.lastname: Ridzon
authors.forename: Pavel
authors.initials: P
authors.lastname: Urban
authors.forename: Zdenka
authors.initials: Z
authors.lastname: Fenclova
authors.forename: Vit
authors.initials: V
authors.lastname: Petrik
authors.forename: Pavel
authors.initials: P
authors.lastname: Diblik
authors.forename: Pavel
authors.initials: P
authors.lastname: Kuthan
authors.forename: Michal
authors.initials: M
authors.lastname: Miovsky
authors.forename: Barbara
authors.initials: B
authors.lastname: Janikova
authors.forename: Vera
authors.initials: V
authors.lastname: Adamkova
authors.forename: Sergey
authors.initials: S
authors.lastname: Zakharov
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D019392:Cytochrome P-450 CYP2E1 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D000432:Methanol / Q000506:poisoning*; D008875:Middle Aged; D011110:Polymorphism, Genetic; D012720:Severity of Illness Index; D017741:Survivors; D055815:Young Adult
chemical_list: D019392:Cytochrome P-450 CYP2E1; D000432:Methanol