title: Association of the ACE I/D gene polymorphisms with JAK2V617F-positive polycythemia vera and essential thrombocythemia.
abstract: The renin-angiotensin system contributes to cell growth, proliferation, and differentiation in the bone marrow. We investigated the role of the ACE I/D gene polymorphism in 108 polycythemia vera (PV) and essential thrombocytosis (ET) patients who were positive for the JAK2V617F mutation, with a thrombosis group (TG) of 95 patients who had a history of vascular events, but did not have a history of myeloproliferative neoplasms and compared these to a healthy control group (CG) of 72 subjects. In the patients, II genotype and I allele frequency (p=0.009, odds ratio [OR]=9.716, 95% confidence interval [CI]=1.242-76.00, p=0.004, OR=2.019, 95% CI=1.243-3.280, respectively) were found to be higher than those in the controls. The DD genotype (p=0.021, OR=0.491, 95% CI=0.268-0.899) and D allele (p=0.004, OR=0.495, 95% CI=0.305-0.805) were found to be correlated with a decreased risk of a myeloproliferative neoplasm. These findings support the hypothesis that the ACE II genotype and I allele may be related to increased risk of ET and PV. Conversely, the DD genotype and D allele may be related to decreased risk of ET and PV. The results also indicated that the ACE I/D gene polymorphism was independent of thrombosis formation.
authors.affiliation: 1 Şevket Yılmaz Training and Research Hospital , Medical Genetics Unit, Bursa, Turkey .
authors.forename: Orhan
authors.initials: O
authors.lastname: Gorukmez
authors.affiliation: 2 Department of Medical Genetics, School of Medicine, Uludag University , Bursa, Turkey .
authors.forename: Şebnem Ozemri
authors.initials: ŞO
authors.lastname: Sag
authors.affiliation: 2 Department of Medical Genetics, School of Medicine, Uludag University , Bursa, Turkey .
authors.forename: Özlem
authors.initials: Ö
authors.lastname: Gorukmez
authors.affiliation: 2 Department of Medical Genetics, School of Medicine, Uludag University , Bursa, Turkey .
authors.forename: Mehmet
authors.initials: M
authors.lastname: Ture
authors.affiliation: 2 Department of Medical Genetics, School of Medicine, Uludag University , Bursa, Turkey .
authors.forename: Ali
authors.initials: A
authors.lastname: Topak
authors.affiliation: 2 Department of Medical Genetics, School of Medicine, Uludag University , Bursa, Turkey .
authors.forename: Serdar
authors.initials: S
authors.lastname: Sahinturk
authors.affiliation: 3 Department of Biostatistics, School of Medicine, Uludag University , Bursa, Turkey .
authors.forename: Güven
authors.initials: G
authors.lastname: Ozkaya
authors.affiliation: 2 Department of Medical Genetics, School of Medicine, Uludag University , Bursa, Turkey .
authors.forename: Tuna
authors.initials: T
authors.lastname: Gulten
authors.affiliation: 4 Division of Hematology, Department of Internal Medicine, School of Medicine, Uludag University , Bursa.
authors.forename: Rıdvan
authors.initials: R
authors.lastname: Ali
authors.affiliation: 2 Department of Medical Genetics, School of Medicine, Uludag University , Bursa, Turkey .
authors.forename: Tahsin
authors.initials: T
authors.lastname: Yakut
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D054643:INDEL Mutation; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D011087:Polycythemia Vera / Q000097:blood / Q000235:genetics*; D013920:Thrombocythemia, Essential / Q000097:blood / Q000235:genetics*; D055815:Young Adult
chemical_list: C507924:JAK2 protein, human; D053614:Janus Kinase 2; C488034:ACE protein, human; D007703:Peptidyl-Dipeptidase A