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[Icelandic genealogical registry sheds light on the significance of heredity in osteoarthritis].
Lakartidningen. 2002 Nov 21; 99(47):4724-8.L

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.

Authors+Show Affiliations

Ingvarsson T
Universitetssjukhuset Akureyri, Akureyri, Island. thi@fsa.is
Lohmander S
No affiliation info available

MeSH

Databases, FactualGenetic ResearchGenetic TestingGenotypeHumansIcelandMutationOsteoarthritisOsteoarthritis, HipPedigreePhenotypeRegistries

Pub Type(s)

English Abstract
Journal Article

Language

swe

PubMed ID

12523047

Citation

Ingvarsson, Thorvaldur, and Stefan Lohmander. "[Icelandic Genealogical Registry Sheds Light On the Significance of Heredity in Osteoarthritis]." Lakartidningen, vol. 99, no. 47, 2002, pp. 4724-8.
Ingvarsson T, Lohmander S. [Icelandic genealogical registry sheds light on the significance of heredity in osteoarthritis]. Lakartidningen. 2002;99(47):4724-8.
Ingvarsson, T., & Lohmander, S. (2002). [Icelandic genealogical registry sheds light on the significance of heredity in osteoarthritis]. Lakartidningen, 99(47), 4724-8.
Ingvarsson T, Lohmander S. [Icelandic Genealogical Registry Sheds Light On the Significance of Heredity in Osteoarthritis]. Lakartidningen. 2002 Nov 21;99(47):4724-8. PubMed PMID: 12523047.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Icelandic genealogical registry sheds light on the significance of heredity in osteoarthritis]. AU - Ingvarsson,Thorvaldur, AU - Lohmander,Stefan, PY - 2003/1/14/pubmed PY - 2003/3/4/medline PY - 2003/1/14/entrez SP - 4724 EP - 8 JF - Lakartidningen JO - Lakartidningen VL - 99 IS - 47 N2 - 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. SN - 0023-7205 UR - https://www.unboundmedicine.com/medline/citation/12523047/[Icelandic_genealogical_registry_sheds_light_on_the_significance_of_heredity_in_osteoarthritis]_ DB - PRIME DP - Unbound Medicine ER -