Kapuku Gaston K, Ge Dongliang, Vemulapalli Sarita, Harshfield Gregory A, Treiber Frank A, Snieder Harold
Georgia Prevention Institute, Department of Pediatrics, Medical College of Georgia, Augusta, Georgia, USA.
Am J Hypertens. 2008 Jul;21(7):799-805. doi: 10.1038/ajh.2008.178. Epub 2008 Apr 24.
Genetic contribution to left ventricular (LV) structure is generally recognized, but whether and how this influence varies by ethnicity or with age is unknown.
Participants were 517 European-American (EA) and African-American (AA) twin pairs (mean age: 14.6 +/- 3.0) at visit 1 and 422 EA and AA twin pairs at follow-up 4.1 years later. Echocardiograms were obtained on both visits. Data were analyzed using the structural equation modeling software Mx.
Body mass index (BMI) was a strong predictor for all LV measures at both visits 1 and 2, accounting for 3.5-24.2% of the total variance. Hemodynamics explained up to 4.5% additional LV measures variance. After adjusting for BMI, LV measures showed substantial heritability (range: 21-71%). Best-fitting longitudinal models revealed considerable novel genetic effects on the interventricular septum, posterior wall-, and relative wall thickness (RWT) (but not LV internal diameter), accounting for 32-41% of the phenotypic variance at visit 2, with no significant gender and ethnic effects. There was a gender difference for LV mass index in AAs (P < 0.01), with a significant influence of novel genetic effects in males (47%), but not in females. No gender difference was seen in EAs, with 34% of the phenotypic variance at visit 2 attributable to novel genetic effects.
The heritability of cardiac structure and geometry was equally substantial in both AAs and EAs. Significant novel genetic influences were detected for all measures but LV inner diameter and LV mass index in AA females. Further developmental genetic studies are warranted to elucidate the nature of the emerging gene effects during the transition from adolescence to adulthood.
遗传因素对左心室(LV)结构的影响已得到普遍认可,但这种影响是否因种族或年龄而异以及如何变化尚不清楚。
研究对象为517对欧美裔(EA)和非裔美国人(AA)双胞胎(平均年龄:14.6±3.0岁),首次访视时参与研究,4.1年后的随访中有422对EA和AA双胞胎参与。两次访视均进行了超声心动图检查。使用结构方程建模软件Mx对数据进行分析。
体重指数(BMI)在首次和第二次访视时都是所有左心室测量指标的强预测因子,占总方差的3.5 - 24.2%。血流动力学因素最多可解释左心室测量指标额外4.5%的方差。在调整BMI后,左心室测量指标显示出相当高的遗传度(范围:21 - 71%)。最佳拟合纵向模型显示,对室间隔、后壁厚度和相对壁厚度(RWT)(而非左心室内径)有相当大的新遗传效应,占第二次访视时表型方差的32 - 41%,且无显著的性别和种族效应。非裔美国人的左心室质量指数存在性别差异(P < 0.01),新遗传效应在男性中有显著影响(47%),但在女性中无显著影响。欧美裔中未观察到性别差异,第二次访视时34%的表型方差可归因于新遗传效应。
非裔美国人和欧美裔人群中心脏结构和几何形状的遗传度同样显著。在非裔美国女性中,除左心室内径和左心室质量指数外,所有测量指标均检测到显著的新遗传影响。有必要进行进一步的发育遗传学研究,以阐明从青春期到成年期出现的基因效应的本质。