WFRF:(Pirskanen R)
Sökning: WFRF:(Pirskanen R) > Utilizing twins con...
- 20 av 57
- Föregående post
- Nästa post
- Till träfflistan
Utilizing twins concordance rates to infer the predisposition to myasthenia gravis
-
- Ramanujam, R (författare)
- Karolinska Institutet
- Pirskanen, R (författare)
- Ramanujam, S (författare)
- visa fler...
- visa färre...
- (creator_code:org_t)
- 2012-02-21
- 2011
- Engelska.
- Ingår i: Twin research and human genetics : the official journal of the International Society for Twin Studies. - : Cambridge University Press (CUP). - 1832-4274. ; 14:2, s. 129-136
- Tidskriftsartikel (refereegranskat)
Abstract
Ämnesord
Stäng
- Myasthenia gravis (MG) is an autoimmune disorder in which patients experience muscular fatigability due to the presence of anti-acetylcholine receptor (AChR) antibodies which inhibit signal transduction across the neuro-muscular junction. Like all complex disorders, disease is caused by an interaction between genetic and environmental factors. Although several genes have been identified which appear to be associated with MG, both classic twin studies and current multi-gene models are insufficient to explain either disease pathogenesis or inheritance. We examined the literature on MG to determine both mono- and dizygotic twin concordance rates, and used this data to (1) estimate the proportion of the population with underlying genetic predisposition to MG and the frequency of the environmental component and (2) derive the number of inherited genetic regions that are required to confer predisposition to MG. Using a MZ twin concordance rate of 35.5%, and a dizygotic rate of approximately 4–5% (based on family data), the probability of encountering environmental components necessary to develop MG in an individual with genetic predisposition is approximately 52.4%, making the frequency of predisposition (1:5240) roughly twice the rate of incidence. Furthermore, the number of genetic regions co-inherited between affected individuals is between two and four, which may be large haplotypes with interacting activity. Determining these haplotypes, by fully sequencing associated regions in cases and controls to identify mutations present, may therefore be a practically step toward the understanding of complex disease.
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
- Twin research and human genetics : the official journal of the International Soc... (Sök värdpublikationen i LIBRIS)
Till lärosätets databas
- 20 av 57
- Föregående post
- Nästa post
- Till träfflistan
Hitta mer i SwePub
- Av författaren/redakt...
- Ramanujam, R
- Pirskanen, R
- Ramanujam, S
- Hammarstrom, L
- Artiklar i publikationen
- Twin research an ...
- Twin Research an ...
- Av lärosätet
- Karolinska Institutet
Sök utanför SwePub
- Sök vidare i:
- Google Book Search
- Google Scholar
Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.
- Copyright © LIBRIS - Nationella bibliotekssystem
- LIBRIS.kb.se
