Genetic Epidemiology, Psychiatric Genetics, Asthma Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
17638130
TITLE
A methodological appraisal of the impact of different classification procedures used in three different phases of the australian rheumatoid arthritis twin survey.
ABSTRACT
AIMS NlmCategory: OBJECTIVE
To compare methodological aspects of the impact of different classification procedures used in three phases of a twin study examining genetic factors in the aetiopathogenesis of rheumatoid arthritis (RA).
METHODS NlmCategory: METHODS
We have previously reported the results of a study of the aetiopathogenesis of RA based on the Australian Twin Registry (ATR). In the original 258 pairs self-reporting a diagnosis of RA in twin, co-twin or both, a very high false positive self-reporting rate for RA was noted (Phase 1). Subsequent diagnostic information obtained by a disease-specific questionnaire, followed by telephone interviews with subjects and review of information obtained by mail and telephone interview from the patient's general practitioner or musculoskeletal specialist, identified 23 'true' RA pairs (Phase 2). Pairwise concordance percentages for RA based on those 20 discordant and 3 concordant pairs were as follows: monozygotic (MZ) 21% (95% confidence interval (CI)=6-44%), dizygotic (DZ) 0% (95% CI=0-25%) (probandwise concordance MZ 35% (8.9-67.3), DZ 0% (0-50.3)). Given the potential effects of misclassification on data interpretation, we have further pursued the accuracy of diagnosis by a systematic clinical, serological and radiographical evaluation of the 23 RA pairs (Phase 3).
RESULTS NlmCategory: RESULTS
In only one instance did more intense diagnostic investigation of the 23 pairs result in recategorization. The probandwise concordance percentages were recalculated: MZ=37.5%, DZ=0%.
CONCLUSIONS NlmCategory: CONCLUSIONS
Our original contention that genetic factors play some part in the aetiopathogenesis of RA, but do not account entirely for its determination, has been substantiated at a higher level of confidence and at almost identical levels of concordance.
DATE PUBLISHED
1998
HISTORY
PUBSTATUS PUBSTATUSDATE
received 1997/11/03
accepted 1998/02/09
pubmed 2007/07/20 09:00
medline 2007/07/20 09:01
entrez 2007/07/20 09:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Bellamy N Bellamy N N Department of Medicine, The University of Western Ontario, N6A 4G5, London, Canada.
Duffy DL Duffy D L DL
Sambrook P Sambrook P P
Buchanan RR Buchanan R R RR
Brooks PM Brooks P M PM
Dunckley H Dunckley H H
Healey SC Healey S C SC
Mason S Mason S S
Martin NG Martin N G NG
INVESTIGATORS
JOURNAL
VOLUME: 6
ISSUE: 1
TITLE: Inflammopharmacology
ISOABBREVIATION: Inflammopharmacology
YEAR: 1998
MONTH:
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Print
ISSN: 0925-4692
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: Inflammopharmacology
COUNTRY: Switzerland
ISSNLINKING: 0925-4692
NLMUNIQUEID: 9112626
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
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