Among the common complex diseases, hypertension has been particularly unlucky in the recent surge of positive results from genome-wide association studies. We summarize the evidence that would support continuing the effort in the hunt for a genetic basis for hypertension. The problems facing the genetic studies for hypertension are not unique, but phenotypic characterization, heterogeneity and high prevalence make it a special case requiring a more individualized approach. We argue that, even in the presence of a strong environmental component to hypertension risk, the common disease/common variant model is relevant for hypertension and discuss the issues involved in designing a genome-wide association study for hypertension. It is likely that the individual odds ratios for disease variants will be less than 1.3 and, although individually these effect sizes are minor, the combination of even a few such common polymorphisms can have substantial population attributable risks. The identification of hypertension gene variants should provide new insight into the disease susceptibility, progression and severity. This will lead to the identification of potential targets for lifestyle and pharmacological interventions, with the ultimate goal of improving prevention, diagnosis and treatment

Padmanabhan, S., Melander, O., Hastie, C., Menni, C., Delles, C., Connell, J., et al. (2008). Hypertension and genome-wide association studies: combining high fidelity phenotyping and hypercontrols. JOURNAL OF HYPERTENSION, 26(7), 1275-1281 [10.1097/HJH.0b013e3282ff634f].

Hypertension and genome-wide association studies: combining high fidelity phenotyping and hypercontrols

Menni C;
2008

Abstract

Among the common complex diseases, hypertension has been particularly unlucky in the recent surge of positive results from genome-wide association studies. We summarize the evidence that would support continuing the effort in the hunt for a genetic basis for hypertension. The problems facing the genetic studies for hypertension are not unique, but phenotypic characterization, heterogeneity and high prevalence make it a special case requiring a more individualized approach. We argue that, even in the presence of a strong environmental component to hypertension risk, the common disease/common variant model is relevant for hypertension and discuss the issues involved in designing a genome-wide association study for hypertension. It is likely that the individual odds ratios for disease variants will be less than 1.3 and, although individually these effect sizes are minor, the combination of even a few such common polymorphisms can have substantial population attributable risks. The identification of hypertension gene variants should provide new insight into the disease susceptibility, progression and severity. This will lead to the identification of potential targets for lifestyle and pharmacological interventions, with the ultimate goal of improving prevention, diagnosis and treatment
Articolo in rivista - Articolo scientifico
genetics, genome-wide association, hypertension, polymorphism
English
2008
26
7
1275
1281
none
Padmanabhan, S., Melander, O., Hastie, C., Menni, C., Delles, C., Connell, J., et al. (2008). Hypertension and genome-wide association studies: combining high fidelity phenotyping and hypercontrols. JOURNAL OF HYPERTENSION, 26(7), 1275-1281 [10.1097/HJH.0b013e3282ff634f].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/8670
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