English
 
User Manual Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
  Association of ENPP1 gene polymorphisms with hand osteoarthritis in a Chuvasha population

Suk, E.-K., Malkin, I., Dahm, S., Kalichman, L., Ruf, N., Kobyliansky, E., et al. (2005). Association of ENPP1 gene polymorphisms with hand osteoarthritis in a Chuvasha population. Arthritis Research & Therapy, 7(5), R 1082-R 1090. doi:10.1186/ar1786.

Item is

Basic

show hide
Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-85F8-A Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-85F9-8
Genre: Journal Article
Alternative Title : Arthritis Res Ther

Files

show Files
hide Files
:
Suk et al. - Arthritis Res Ther.pdf (Any fulltext), 265KB
Name:
Suk et al. - Arthritis Res Ther.pdf
Description:
-
Visibility:
Public
MIME-Type / Checksum:
application/pdf / [MD5]
Technical Metadata:
Copyright Date:
-
Copyright Info:
eDoc_access: PUBLIC
License:
-

Locators

show

Creators

show
hide
 Creators:
Suk, Eun-Kyung1, Author              
Malkin, Ida, Author
Dahm, Stefan, Author
Kalichman, Leonid, Author
Ruf, Nico, Author
Kobyliansky, Eugene, Author
Toliat, Mohammad, Author
Rutsch, Frank, Author
Nürnberg, Peter, Author
Livshits, Gregory, Author
Affiliations:
1Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433550              

Content

show
hide
Free keywords: -
 Abstract: Periarticular calcification is a common attendant symptom of generalized arterial calcification of infancy, a rare Mendelian disorder caused by mutations of the gene coding for ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). This prompted us to perform a family-based association study to test the hypothesis that genetic variation at the ENPP1 locus is involved in the etiology of osteoarthritis of the hand. The study population comprised 126 nuclear families with 574 adult individuals living in small villages in the Chuvasha and Bashkirostan autonomies of the Russian Federation. The extent of osteoarthritis was determined by analyzing plain hand radiographs. The outcome of a principal component analysis of osteoarthritis scores of a total of 28 joints of both hands was used as a primary phenotype in this study. Maximum likelihood estimates of the variance component analysis revealed a substantial contribution of genetic factors to the overall trait variance of about 25% in this homogeneous population. Three short tandem repeat (STR) polymorphisms – one intragenic and two flanking markers – and four single-nucleotide polymorphisms were tested. The markers tagged the ENPP1 locus at nearly equal intervals. We used three different transmission disequilibrium tests and obtained highly significant association signals. Alleles of the upstream microsatellite marker as well as several single-nucleotide polymorphism haplotypes consistently revealed the association. Thus, our data highlights variability of ENPP1 as an important genetic factor in the pathogenesis of idiopathic osteoarthritis.

Details

show
hide
Language(s): eng - English
 Dates: 2005-07-13
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: eDoc: 276050
DOI: 10.1186/ar1786
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: Arthritis Research & Therapy
  Alternative Title : Arthritis Res Ther
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 7 (5) Sequence Number: - Start / End Page: R 1082 - R 1090 Identifier: ISSN: 1465-9905