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Hypertension. 2002;40:1-6
Published online before print June 3, 2002, doi: 10.1161/01.HYP.0000022660.28915.B1
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(Hypertension. 2002;40:1.)
© 2002 American Heart Association, Inc.


Scientific Contributions

Genome Scans for Blood Pressure and Hypertension

The National Heart, Lung, and Blood Institute Family Heart Study*

Steven C. Hunt; R. Curtis Ellison; Larry D. Atwood; James S. Pankow; Michael A. Province; Mark F. Leppert

From the Cardiovascular Genetics Program, Cardiology Division, Department of Internal Medicine (S.C.H.), and the Department of Human Genetics (M.F.L.), University of Utah School of Medicine, Salt Lake City, Utah; the Section of Preventive Medicine and Epidemiology, Evans Department of Medicine (R.C.E.), and Department of Neurology (L.D.A.), Boston University School of Medicine, Boston, Mass; the Department of Epidemiology, University of Minnesota Medical School (J.S.P.), Minneapolis, Minn; and the Division of Biostatistics, Washington University School of Medicine (M.A.P.), St Louis, Mo.

Correspondence to Steven C. Hunt, PhD, Cardiovascular Genetics, 410 Chipeta Way, Room 167, Salt Lake City, UT 84108. E-mail steve{at}ucvg.med.utah.edu

This study presents genome scans for hypertension and blood pressures from 2959 individuals in 500 white families from the National Heart, Lung, and Blood Institute Family Heart Study. Genome scans were performed with different methods of handling the 27% of individuals taking antihypertensive medications. Variance components LOD scores were estimated by assigning medicated hypertensive individuals (1) to have a blood pressure of 140/90; (2) to be missing; and (3) to have a randomly assigned systolic blood pressure between 140 and 160 (N[150,5] distribution) and diastolic blood pressure between 90 and 100 mm Hg (N[95,2.5] distribution). There were 5 regions with heterogeneity LOD scores >=2.0 for hypertension (unadjusted for multiple models): 2.8 on chromosome 1 (192 cM), 2.6 on chromosome 7 (58 cM), 2.0 on chromosome 7 (127 cM), 2.4 on chromosome 12 (83 cM), and 2.4 on chromosome 15 (103 cM). Diastolic blood pressure had no LOD scores >=2.0. Only chromosome 6 showed linkage for systolic blood pressure, with a LOD score of 3.3 at 88.7 cM from the initial randomization. Multiple randomizations of medicated subjects’ systolic blood pressures yielded a mean LOD score of 2.8±0.4, whereas setting medicated systolic blood pressures to 140 mm Hg yielded a LOD score of 3.3. Excluding the medicated individuals or using their treated blood pressures reduced the LOD scores to 0.8 and 1.3, respectively, indicating the importance of including the extremes of quantitative trait distributions in linkage analyses. These results overlap other published scans, particularly regions on chromosomes 1 and 6, which have been implicated in familial combined hyperlipidemia.


Key Words: blood pressure • genetics • hypertension, essential • hypertension, genetic • hyperlipidemia




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