Primary biliary cirrhosis in twin sisters

Chohan, Moeed R.

doi:10.1136/gut.14.3.213

Cited by 62 publications

(22 citation statements)

References 2 publications

(1 reference statement)

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“…Chohan and colleagues report the case of PBC in twin sisters [226], as did Freeman [227]. The female twins in both case reports had episodes of childhood jaundice [226,227], possibly due to infectious or environmental factors [227].…”

Section: Autoimmune Liver Disease (Aild)mentioning

confidence: 94%

Twin studies in autoimmune disease: Genetics, gender and environment

Bogdanos

Smyk

Rigopoulou

et al. 2012

Journal of Autoimmunity

244

163

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Section: Autoimmune Liver Disease (Aild)mentioning

confidence: 94%

Twin studies in autoimmune disease: Genetics, gender and environment

Bogdanos

Smyk

Rigopoulou

et al. 2012

Journal of Autoimmunity

244

163

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“…The concordance rates in monozygotic twins for autoimmune diseases range between 12% for rheumatoid arthritis 21 and 83% for celiac disease, 22 and are on average well below 50%. Until recently, only two case reports addressed the issue for PBC, with one describing a concordant 23 and the other a discordant 24 pair defined as monozygotic, although in both cases zygosity was not genetically proven. We have recently reported that concordance rates for PBC are 63% in monozygotic and null in dizygotic twins, with three out of eight monozygotic twin sets being discordant for disease occurrence.…”

Section: Familial Pbcmentioning

confidence: 99%

Genes and (auto)immunity in primary biliary cirrhosis

et al. 2005

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Primary biliary cirrhosis (PBC) is a chronic autoimmune cholestatic liver disease most commonly encountered in postmenopausal women; it is characterized by high-titer serum autoantibodies to mitochondrial antigens, elevated serum IgM, progressive destruction of intrahepatic bile ducts, and ultimately liver cirrhosis and failure. The cytopathic mechanisms leading to the selective destruction of intrahepatic cholangiocytes are still largely unknown. The current theory on the pathogenesis of PBC indicated that environmental factors might trigger autoimmunity in genetically susceptible individuals. In fact, genetic predisposition is critical to disease onset and progression, yet peculiar among autoimmune diseases, as indicated by the lack of a strong association with major histocompatibility complex haplotypes. Further, the recently reported concordance rate among monozygotic twins strenghtens the importance of genetic factors, while also indicating that additional factors, possibly infectious agents or xenobiotics, intervene to trigger the disease. In this review, the available data regarding the genetic factors associated with PBC susceptibility and progression, as well as the available evidence regarding the immunomediated pathogenesis of PBC, will be critically illustrated and discussed.

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“…In 1973, the case of twin sisters both with PBC was reported without ascertaining zygosity. 6 A more recent report described a pair of identical twins discordant for the disease, 7 although the monozygosity of the set has been debated 8 and the healthy twin was found to have low-titer antimitochondrial antibodies (AMA). In this study, we studied the CRs among 8 genetically proven MZ and 8 DZ twin sets.…”

Section: Background and Aimsmentioning

confidence: 99%