title: Functional and genetic survey of all known single-nucleotide polymorphisms within the human deoxyribonuclease I gene in wide-ranging ethnic groups.
abstract: The single-nucleotide polymorphisms (SNPs) in the human DNase I gene (DNASE1) might be involved in susceptibility to some common diseases; however, only limited population data are available. Further, the effects of these SNPs on in vivo DNase I activity remain unknown. The genotype and haplotype of all the SNPs in DNASE1 were determined in 3 ethnic groups including 14 populations using newly developed methods. Together with our previous data on the nonsynonymous SNPs, two major haplotypes based on the five exonic SNPs were identified; genetic diversity in the Asian population was low. Among 10 SNPs, other than exonic SNPs in the gene, only 3 were polymorphic among all the populations. Haplotype distribution, based on all the polymorphic SNPs, was clarified to be generally varied in an ethnic-dependent manner. Thus, the genetic aspects of DNASE1 with regard to all the SNPs in wide-ranging ethnic groups could be first demonstrated. Further, there was no correlation of all the polymorphic SNPs other than nonsynonymous ones with serum DNase I activity levels. Polymorphic SNPs other than the exonic SNPs might not be directly related to common diseases through alterations in in vivo levels of the activity.
authors.affiliation: Department of Legal Medicine, Shimane University School of Medicine, Izumo, Japan.
authors.forename: Junko
authors.initials: J
authors.lastname: Fujihara
authors.forename: Misuzu
authors.initials: M
authors.lastname: Ueki
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Yasuda
authors.forename: Reiko
authors.initials: R
authors.lastname: Iida
authors.forename: Mikiko
authors.initials: M
authors.lastname: Soejima
authors.forename: Yoshiro
authors.initials: Y
authors.lastname: Koda
authors.forename: Kaori
authors.initials: K
authors.lastname: Kimura-Kataoka
authors.forename: Hideaki
authors.initials: H
authors.lastname: Kato
authors.forename: Arturo
authors.initials: A
authors.lastname: Panduro
authors.forename: Miki
authors.initials: M
authors.lastname: Tongu
authors.forename: Haruo
authors.initials: H
authors.lastname: Takeshita
mesh_terms: D003850:Deoxyribonuclease I / Q000097:blood / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D056186:Metagenomics; D011110:Polymorphism, Genetic / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: C085693:DNASE1 protein, human; D003850:Deoxyribonuclease I