Genome-Wide Association Studies of Hypertension: Light at the End of the Tunnel
Author(s) -
Claire E. Hastie,
Sandosh Padmanabhan,
Anna F. Dominiczak
Publication year - 2010
Publication title -
international journal of hypertension
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.744
H-Index - 37
eISSN - 2090-0392
pISSN - 2090-0384
DOI - 10.4061/2010/509581
Subject(s) - medicine , genetic association , genome wide association study , scope (computer science) , association (psychology) , bioinformatics , computational biology , single nucleotide polymorphism , genetics , computer science , biology , gene , genotype , philosophy , epistemology , programming language
Despite its significant genetic component, the study of hypertension by genome-wide association presents more challenges than other common complex diseases. Its high prevalence, heterogeneity, and somewhat unclear definition are the challenges that need to be overcome on one hand. On the other hand, there are issues of small effect sizes and pleiotropism that are not specific to hypertension alone but nonetheless magnify the problems of genetic dissection when coupled with phenotypic misclassification. We discuss issues of study design and summarise published genome-wide association studies (GWASs) of hypertension and blood pressure. With careful study design and analysis success is possible, as demonstrated by the recent large-scale studies. Following these, there is still further scope to advance the field through high fidelity phenotyping and deep sequencing.
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