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(Circulation. 2000;101:2810.)
© 2000 American Heart Association, Inc.

Clinical Investigation and Reports

QTL Influencing Blood Pressure Maps to the Region of PPH1 on Chromosome 2q31-34 in Old Order Amish

Wen-Chi Hsueh, PhD; Braxton D. Mitchell, PhD; Jennifer L. Schneider, BS; Michael J. Wagner, PhD; Callum J. Bell, PhD; Elizabeth Nanthakumar, MS; Alan R. Shuldiner, MD

From Southwest Foundation for Biomedical Research, San Antonio, Tex (W.-C.H., B.D.M., J.L.S.); GlaxoWellcome, Inc, Research Triangle Park, NC (M.J.W.); Axys Pharmaceuticals, La Jolla, Calif (C.J.B., E.N.); and the University of Maryland School of Medicine, Baltimore (A.R.S.).

Correspondence to Braxton D. Mitchell, Department of Genetics, Southwest Foundation for Biomedical Research, PO Box 760549, San Antonio, TX 78245-0549. E-mail bmitchel{at}darwin.sfbr.org

Background—Hypertension is a major risk factor for coronary heart disease, stroke, congestive heart failure, renal insufficiency, and peripheral vascular disease. Although the genetic contribution to variation in blood pressure is well recognized, the specific genes involved are mostly unknown. We carried out a genome-wide scan to identify loci influencing blood pressure in the Old Order Amish population of Lancaster County, Pennsylvania.

Methods and Results—Blood pressures were measured in 694 adult participants from families recruited without regard to blood pressure. We performed a quantitative linkage analysis by using 357 microsatellite markers. In multipoint analysis, strong evidence for linkage was observed with both diastolic (lod=3.36; P=0.00004) and to a lesser extent systolic (lod=1.64; P=0.003) blood pressure in the region of chromosome 2q31-34. Peak evidence for linkage occurred at map positions 217 and 221 cM from pter for diastolic and systolic blood pressure, respectively.

Conclusions—A gene linked to familial primary pulmonary hypertension has recently been mapped to this same region, suggesting the intriguing hypothesis that other (attenuated) mutations in this same gene may influence variation in systolic and diastolic blood pressure in this population.

Key Words: blood pressure • Amish • genetics • hypertension, pulmonary

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