Genetic Studies in Indigenous Populations
There have also been a few research efforts to elucidate the genetic
variants predisposing Native Americans and Aboriginal communities to ion
channelopathies. Historically, there has been a paucity of data on
Indigenous populations in large genomic datasets such as the Genome
Aggregation Database.8 Furthermore, it is apparent
that Indigenous populations have not yet experienced the benefits of
technological advancements that aid genomic research and the diagnosis
of rare diseases, including CVD.7 These disparities
are even more pronounced in the research of ion channelopathies in these
populations despite ongoing efforts to address these gaps. Swayne et al.
identified a novel ANK2 variant in multigenerational families,
the carriers of which showed LQTS and exhibited signs of structural
heart disease, including one with cardiomyopathy resulting in
SCD.37 Two other studies highlighted the same missense
mutation in the KCNQ1 (V205M) associated with hereditary LQTS in
First Nations subgroups in Northern British
Columbia.38, 39 The V205M variant showed variable
effect in clinical expression, as 30% of the mutation carriers still
had a corrected QT interval under 440ms, showing the heterogeneous
nature of hereditary LQTS, especially in this specific demographic.
While these studies add significantly to the growing knowledge of ion
channelopathies in Native American and Indigenous populations, further
research is needed to adequately characterize these arrhythmogenic
conditions from genetic factors to the overall clinical management in
these underserved populations.