Molecular genetics of human blood pressure variation.
Hypertension is a common multifactorial vascular disorder of largely unknown cause. Recognition that hypertension is in part genetically determined has motivated studies to identify mutations that confer susceptibility. Thus far, mutations in at least 10 genes have been shown to alter blood pressure; most of these are rare mutations imparting large quantitative effects that either raise or lower blood pressure. These mutations alter blood pressure through a common pathway, changing salt and water reabsorption in the kidney. These findings demonstrate the utility of molecular genetic approaches to the understanding of blood pressure variation and may provide insight into the physiologic mechanisms underlying common forms of hypertension.
Lifton
R P
RP
Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510, USA.
D000042:Absorption; D000818:Animals; D001794:Blood Pressure / Q000235:genetics*; D002874:Chromosome Mapping; D014644:Genetic Variation; D006801:Humans; D006973:Hypertension / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D007022:Hypotension / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D007668:Kidney / Q000378:metabolism; D009154:Mutation; D012084:Renin-Angiotensin System / Q000502:physiology; D012964:Sodium / Q000378:metabolism
D012964:Sodium