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sländskt släktregister ger kunskap om arvets betydelse vid artros

Ingvarsson, Thorvaldur and Lohmander, Stefan LU (2002) In Läkartidningen 99(47). p.4724-4728
Abstract
Osteoarthritis is a heterogeneous and multifactorial disease with many pathogenic mechanisms implicated in its development and progression. Although osteoarthritis is a manifestation of certain metabolic, mechanical or inflammatory events, several distinct forms of osteoarthritis are inherited as dominantly acquired Mendelian traits. Gathering evidence is showing that inheritance and possible mutations in genes associated with osteoarthritis can play a major role in the common form of osteoarthritis in many joints. By the introduction of new biological methods for finding gene defects the search for possible gene defects have taken mainly three forms: (1) Parametric linkage analysis of rare families in which osteoarthritis segregates as a... (More)
Osteoarthritis is a heterogeneous and multifactorial disease with many pathogenic mechanisms implicated in its development and progression. Although osteoarthritis is a manifestation of certain metabolic, mechanical or inflammatory events, several distinct forms of osteoarthritis are inherited as dominantly acquired Mendelian traits. Gathering evidence is showing that inheritance and possible mutations in genes associated with osteoarthritis can play a major role in the common form of osteoarthritis in many joints. By the introduction of new biological methods for finding gene defects the search for possible gene defects have taken mainly three forms: (1) Parametric linkage analysis of rare families in which osteoarthritis segregates as a Mendelian trait; (2) model free linkage analysis of affected sibling pairs, and (3) association analysis of known candidate genes. Mutations today known to be associated with osteoarthritis all occur in relatively rare syndromes or diseases, which have osteoarthritis as a major component. In recent years many loci have been found associated with the "common osteoarthritis phenotype". Chromosomes 2, 4, 6, 11 and 16 were identified in multiple genome scans and are therefore the most likely to encode susceptibility. Ongoing studies will lead to classifications of the "common osteoarthritis" based on the exact causative gene defects, rather than on their variable clinical and radiographic phenotype. Hopefully, these studies will lead to future new therapy of osteoarthritis. (Less)
Please use this url to cite or link to this publication:
author
organization
alternative title
Icelandic genealogical registry sheds light on the significance of heredity in osteoarthritis
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Genforskning, Artros, Island, Stamtavla
in
Läkartidningen
volume
99
issue
47
pages
4724 - 4728
publisher
Swedish Medical Association
external identifiers
  • pmid:12523047
ISSN
0023-7205
language
Swedish
LU publication?
yes
id
fbaad6f3-2cfa-440c-b50e-51b687ece9c8 (old id 1124334)
alternative location
http://ltarkiv.lakartidningen.se/artNo25756
date added to LUP
2008-05-23 08:47:37
date last changed
2016-04-16 05:34:50
@article{fbaad6f3-2cfa-440c-b50e-51b687ece9c8,
  abstract     = {Osteoarthritis is a heterogeneous and multifactorial disease with many pathogenic mechanisms implicated in its development and progression. Although osteoarthritis is a manifestation of certain metabolic, mechanical or inflammatory events, several distinct forms of osteoarthritis are inherited as dominantly acquired Mendelian traits. Gathering evidence is showing that inheritance and possible mutations in genes associated with osteoarthritis can play a major role in the common form of osteoarthritis in many joints. By the introduction of new biological methods for finding gene defects the search for possible gene defects have taken mainly three forms: (1) Parametric linkage analysis of rare families in which osteoarthritis segregates as a Mendelian trait; (2) model free linkage analysis of affected sibling pairs, and (3) association analysis of known candidate genes. Mutations today known to be associated with osteoarthritis all occur in relatively rare syndromes or diseases, which have osteoarthritis as a major component. In recent years many loci have been found associated with the "common osteoarthritis phenotype". Chromosomes 2, 4, 6, 11 and 16 were identified in multiple genome scans and are therefore the most likely to encode susceptibility. Ongoing studies will lead to classifications of the "common osteoarthritis" based on the exact causative gene defects, rather than on their variable clinical and radiographic phenotype. Hopefully, these studies will lead to future new therapy of osteoarthritis.},
  author       = {Ingvarsson, Thorvaldur and Lohmander, Stefan},
  issn         = {0023-7205},
  keyword      = {Genforskning,Artros,Island,Stamtavla},
  language     = {swe},
  number       = {47},
  pages        = {4724--4728},
  publisher    = {Swedish Medical Association},
  series       = {Läkartidningen},
  title        = {sländskt släktregister ger kunskap om arvets betydelse vid artros},
  volume       = {99},
  year         = {2002},
}