Article
Rare independent mutations in renal salt handling genes contribute to blood pressure variation.
Nature genetics - 1 May 2008
Ji Weizhen, Foo Jia Nee, O'Roak Brian J, Zhao Hongyu, Larson Martin G, Simon David B, Newton-Cheh Christopher, State Matthew W, Levy Daniel, Lifton Richard P
Abstract excerpt
The effects of alleles in many genes are believed to contribute to common complex diseases such as hypertension. Whether risk alleles comprise a small number of common variants or many rare independent mutations at trait loci is largely unknown. We screened members of the Framingham Heart Study (FHS) for variation in three genes-SLC12A3 (NCCT), SLC12A1 (NKCC2) and KCNJ1 (ROMK)-causing rare recessive diseases...
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