title: Association between the phenylethanolamine N-methyltransferase gene and multiple sclerosis.
abstract: Phenylethanolamine N-methyltransferase (PNMT), the terminal enzyme of the catecholamine biosynthesis pathway, catalyzes the conversion of norepinephrine (NE) to epinephrine (EPI). PNMT is a candidate gene for multiple sclerosis (MS) for two reasons. PNMT is known to map to a region identified in two genome screens for MS and it directly regulates the amounts of NE and EPI, both of which play a significant role in the modulation of the innate immune response. The frequencies of two promoter polymorphisms of the PNMT gene showed genetic association in a case-control study of 108 patients with MS and 774 ethnically and age-matched control subjects. In subjects with MS, significant differences in the frequency of the GG genotype at the G-387A marker and the AA genotype at the G-182A marker were observed. Additionally, when both markers were combined and evaluated, highly significant differences between the polymorphism distributions in patients with MS and control subjects were detected. The data suggest that these promoter polymorphisms of the PNMT gene, both independently and cumulatively, show association with MS.
authors.affiliation: Department of Medical Genetics, City of Hope Medical Center, Duarte, CA, USA. mbm13@po.cwru.edu
authors.forename: Michael B
authors.initials: MB
authors.lastname: Mann
authors.forename: Shijuan
authors.initials: S
authors.lastname: Wu
authors.forename: Massud
authors.initials: M
authors.lastname: Rostamkhani
authors.forename: Wallace
authors.initials: W
authors.lastname: Tourtellotte
authors.forename: James P
authors.initials: JP
authors.lastname: MacMurray
authors.forename: David E
authors.initials: DE
authors.lastname: Comings
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D001483:Base Sequence / Q000235:genetics; D016022:Case-Control Studies; D015331:Cohort Studies; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics*; D010625:Phenylethanolamine N-Methyltransferase / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics
chemical_list: D010625:Phenylethanolamine N-Methyltransferase