Franceschini Nora, Rose Kathryn M, Storti Kristi L, Rutherford Sue, Voruganti V Saroja, Laston Sandy, Göring Harald H H, Dyer Thomas D, Umans Jason G, Lee Elisa T, Best Lyle G, Fabsitz Richard R, Cole Shelley A, MacCluer Jean W, North Kari E
Department of Epidemiology, University of North Carolina Chapel Hill, 137 E Franklin St, Suite 306 CB#8050, Chapel Hill, NC 27514, USA.
Circ Cardiovasc Genet. 2009 Aug;2(4):396-401. doi: 10.1161/CIRCGENETICS.109.853630. Epub 2009 Jun 16.
Population studies have demonstrated an important role of social, behavioral, and environmental factors in blood pressure (BP) levels. Accounting for the genetic interaction of these factors may help to identify common BP susceptibility alleles.
We studied the interaction of additive genetic effects and behavioral (physical activity, smoking, alcohol use) and socioeconomic (education) factors on BP in approximately 3600 American Indian participants of the Strong Heart Family Study, using variance component models. The mean and SD of resting systolic and diastolic BPs were 123 + or - 17 and 76 + or - 11 mm Hg, respectively. We detected evidence for distinct genetic effects on diastolic BP among ever smokers compared with never smokers (P = 0.01). For alcohol intake, we observed significant genotype-by-environment interactions on diastolic (rhog = 0.10, P = 0.0003) and on systolic BPs (rhog = 0.59, P = 0.0008) among current drinkers compared with former or never drinkers. We also detected genotype-by-physical activity interactions on diastolic BP (rhog = 0.35, P = 0.0004). Finally, there was evidence for distinct genetic effects on diastolic BP among individuals with less than high school education compared with those with 12 or more years of education (rhog = 0.41, P = 0.02).
Our findings suggest that behavioral and socioeconomic factors can modify the genetic effects on BP phenotypes. Accounting for context dependent factors may help us to better understand the complexities of the gene effects on BP and other complex phenotypes with high levels of genetic heterogeneity.
人群研究已证明社会、行为和环境因素在血压（BP）水平中起重要作用。考虑这些因素的基因相互作用可能有助于识别常见的血压易感等位基因。
我们使用方差成分模型，在约3600名参加强心家族研究的美国印第安参与者中，研究了加性遗传效应与行为因素（身体活动、吸烟、饮酒）和社会经济因素（教育程度）对血压的相互作用。静息收缩压和舒张压的平均值及标准差分别为123±17和76±11 mmHg。我们发现，曾经吸烟者与从不吸烟者相比，对舒张压有明显的基因效应（P = 0.01）。对于酒精摄入，我们观察到，与既往饮酒者或从不饮酒者相比，当前饮酒者在舒张压（rhog = 0.10，P = 0.0003）和收缩压（rhog = 0.59，P = 0.0008）上存在显著的基因-环境相互作用。我们还检测到身体活动与基因在舒张压上的相互作用（rhog = 0.35，P = 0.0004）。最后，有证据表明，与接受12年或以上教育的个体相比，受教育程度低于高中的个体在舒张压上有明显的基因效应（rhog = 0.41，P = 0.02）。
我们的研究结果表明，行为和社会经济因素可改变基因对血压表型的影响。考虑上下文相关因素可能有助于我们更好地理解基因对血压及其他具有高度遗传异质性的复杂表型影响的复杂性。
