title: An insertion/deletion polymorphism in intron 18 of the type B human natriuretic peptide receptor gene is not associated with cerebral infarction.
abstract: The natriuretic peptide (NP) system may play a crucial role in the development of cardiovascular and renal diseases. C-type NP dilates arteries and lowers blood pressure, and it inhibits the proliferation of vascular smooth muscle cells via the type B NP receptor (NPRB). We determined and analyzed the structure of the NPRB gene and found an insertion/deletion (I/D) polymorphism in intron 18. In this experiment, we studied this I/D polymorphism in the NPRB gene in 241 subjects, including 118 patients with cerebral infarction (the CI group) and 123 control subjects (the non-CI group). Our goal was evaluate the association of this polymorphism with cerebral infarction. Our findings showed that genotype frequencies of the I/D polymorphism were in Hardy-Weinberg equilibrium. The frequencies for the II, ID, and DD alleles were 0.569, 0.374, and 0.057, respectively, in the non-CI group and 0.576, 0.356, and 0.068, respectively, in the CI group. No association was found between this polymorphism and cerebral infarction. These results suggest that this polymorphism in the NPRB gene is not linked to a pathogenic CI gene.
authors.affiliation: Second Department of Internal Medicine, Nihon University School of Medicine, Tokyo, Japan.
authors.forename: D
authors.initials: D
authors.lastname: Rahmutula
authors.forename: T
authors.initials: T
authors.lastname: Nakayama
authors.forename: M
authors.initials: M
authors.lastname: Soma
authors.forename: Y
authors.initials: Y
authors.lastname: Takahashi
authors.forename: J
authors.initials: J
authors.lastname: Uwabo
authors.forename: M
authors.initials: M
authors.lastname: Sato
authors.forename: Y
authors.initials: Y
authors.lastname: Izumi
authors.forename: K
authors.initials: K
authors.lastname: Kanmatsuse
authors.forename: Y
authors.initials: Y
authors.lastname: Ozawa
mesh_terms: D000368:Aged; D000483:Alleles; D002544:Cerebral Infarction / Q000235:genetics*; D004251:DNA Transposable Elements; D005260:Female; D017353:Gene Deletion; D005838:Genotype; D006162:Guanylate Cyclase; D006801:Humans; D007438:Introns / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D017461:Receptors, Atrial Natriuretic Factor / Q000235:genetics*; D012016:Reference Values; D000099242:Atrial Natriuretic Factor Receptor B
chemical_list: D004251:DNA Transposable Elements; D006162:Guanylate Cyclase; D017461:Receptors, Atrial Natriuretic Factor; D000099242:Atrial Natriuretic Factor Receptor B