Primary Biliary Cholangitis in British Columbia First Nations: Clinical features and discovery of novel genetic susceptibility loci

Asuri, Sirisha; McIntosh, Sarah; Taylor, Valerie Jones; Rokeby, Andrew; Kelly, James K.; Shumansky, Karey; Field, L. Leigh; Yoshida, Eric M.; Arbour, Laura

doi:10.1111/liv.13686

Cited by 17 publications

(30 citation statements)

References 51 publications

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“…In this study, the linkage analysis identified no loci meeting the a priori criteria for significance, a result that may relate to the small sample size . However, loci yielding LOD scores greater than 2.0 were identified at chromosomal regions 1q23‐q24, 6q21, 9q21, 17p13 and 19p13.…”

mentioning

confidence: 66%

“…However, their subsequent fate was clearly influenced by early colonists from Europe, who introduced many In this issue, Asuri and colleagues report their findings from a whole genome linkage analysis of 32 FN families from coastal British Columbia. 4 They studied 44 FN patients suffering from PBC and 61 unaffected relatives with the aim of identifying candidate genes involved in PBC susceptibility. Notably, there was a high prevalence of autoimmune disease in both FN cases and controls, with 50% of the PBC patients having a coexisting autoimmune disease such as RA (23%) and SLE (9%).…”

Section: New Perspectives On the Complexity Of Genetic Predispositionmentioning

confidence: 99%

“…Notably, there was a high prevalence of autoimmune disease in both FN cases and controls, with 50% of the PBC patients having a coexisting autoimmune disease such as RA (23%) and SLE (9%). 4 In epidemiological studies of North American PBC patients, who are mainly of European extraction, about 32% had a coexisting autoimmune disease, with prevalence of RA and SLE being 10% and 3% respectively. 5 FN PBC patients also manifested more severe liver disease in comparison with PBC patients of European descent.…”

Section: New Perspectives On the Complexity Of Genetic Predispositionmentioning

confidence: 99%

“…In this issue, Asuri and colleagues report their findings from a whole genome linkage analysis of 32 FN families from coastal British Columbia . They studied 44 FN patients suffering from PBC and 61 unaffected relatives with the aim of identifying candidate genes involved in PBC susceptibility.…”

mentioning

confidence: 99%

“…They studied 44 FN patients suffering from PBC and 61 unaffected relatives with the aim of identifying candidate genes involved in PBC susceptibility. Notably, there was a high prevalence of autoimmune disease in both FN cases and controls, with 50% of the PBC patients having a coexisting autoimmune disease such as RA (23%) and SLE (9%) . In epidemiological studies of North American PBC patients, who are mainly of European extraction, about 32% had a coexisting autoimmune disease, with prevalence of RA and SLE being 10% and 3% respectively .…”

mentioning

confidence: 99%

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New perspectives on the complexity of genetic predisposition to autoimmune liver disease in indigenous Canadians

Mason

Siminovitch

2018

Liver International

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confidence: 66%

Section: New Perspectives On the Complexity Of Genetic Predispositionmentioning

confidence: 99%

Section: New Perspectives On the Complexity Of Genetic Predispositionmentioning

confidence: 99%

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confidence: 99%

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confidence: 99%

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New perspectives on the complexity of genetic predisposition to autoimmune liver disease in indigenous Canadians

Mason

Siminovitch

2018

Liver International

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Ethnicity, disease severity, and survival in Canadian patients with primary biliary cholangitis

et al. 2022

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Background and Aims:We investigated associations between ethnicity, survival, and disease severity in a diverse Canadian cohort of patients with primary biliary cholangitis (PBC). Approach and Results:Patients with PBC were included from the Canadian Network for Autoimmune Liver Disease. Ethnicity was defined using a modified list adopted from Statistics Canada, and ethnicities with small samples were grouped. Clinical events were defined as liver decompensation, HCC, liver transplantation, or death. Clinical event-free and liver transplantationfree survival were analyzed using Cox regression. Trajectories of serum

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Genomics and inclusion of Indigenous peoples in high income countries

et al. 2023

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Genomics research related to Indigenous people has been at worst exploitative and at best, retrospectively on a journey to improve effective engagement of Indigenous individuals and communities. Genomics can positively impact all stages of clinical management, and to improve genomic effectiveness researchers aggregate genomic data from diverse global sub-populations, such as shared ancestry groupings, as people within these groupings will have a greater proportion of shared DNA traits. While genomics is already being used worldwide to improve lives, its utility and effectiveness has not been maximized for individuals with Indigenous ancestry. Several large datasets of human genetic variation have been made publicly available, of which the most widely used is the Genome Aggregation Database (gnomAD), but none of these databases currently contain any population-specific data for Indigenous populations. There are many reasons why Indigenous people have been largely left out of genomics research and, because of this, miss out on the benefits offered. It is also clear that if research is to be effective, it needs to be done ‘with’ and not ‘on’ Indigenous communities. This systematic review of the literature regarding Indigenous peoples (in high income countries) and genomics aims to review the existing literature and identify areas of strength and weakness in study design and conduct, focusing on the effectiveness of Indigenous community engagement.

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Primary Biliary Cholangitis in British Columbia First Nations: Clinical features and discovery of novel genetic susceptibility loci

Abstract: Our whole genome linkage study results reflect the multifactorial nature of Primary Biliary Cholangitis, support previous studies suggesting signalling pathway involvement and identify new candidate genes for consideration.

Cited by 17 publications

References 51 publications

New perspectives on the complexity of genetic predisposition to autoimmune liver disease in indigenous Canadians

New perspectives on the complexity of genetic predisposition to autoimmune liver disease in indigenous Canadians

Ethnicity, disease severity, and survival in Canadian patients with primary biliary cholangitis

Genomics and inclusion of Indigenous peoples in high income countries

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