From the Departments of Molecular Genetics, Biochemistry, and
Microbiology (K.L.O., C.A.K., Y.R.S., A.G.M.) and Internal Medicine, Division
of Nephrology (M.P.R., M.R.), University of Cincinnati Medical Center (Ohio);
and Cardiovascular Genetics Group, Division of Cardiology, University of Utah
School of Medicine, Salt Lake City (S.C.H.).
Correspondence to Anil G. Menon, Department of Molecular Genetics, Biochemistry, and Microbiology, University of Cincinnati Medical Center, 231 Bethesda Ave, Cincinnati, OH 45267-0524. E-mail Anil.Menon{at}uc.edu
AbstractIncreased body mass index
(BMI) has been correlated with increased blood pressure in human
populations. To examine the role of the leptin gene (OB)
in essential hypertension in African Americans, we performed affected
sib pair analysis on a set of 103 hypertensive African American
sibships using four highly polymorphic markers at the human leptin
locus. No evidence of linkage was detected between these markers and
the phenotype of essential hypertension either in these
sibships or in a severely obese subset of 46 sibships in which each
sibling had a BMI
© 1998 American Heart Association, Inc.
Scientific Contributions
Genetic Markers at the Leptin (OB) Locus Are Not Significantly Linked to Hypertension in African Americans
85th percentile for the US population. Using BMI
rather than hypertension as a quantitative trait, we found significant
linkage for the marker D7S504 (P=0.029) but not for the
other markers. Significance strengthened in the overweight subset of
sibships for this marker (P=0.001), and there was a
trend of lower P values for the other three markers.
However, multipoint analysis with the use of all four markers
simultaneously to estimate linkage between BMI and the
leptin locus did not demonstrate a statistically significant
relationship. Analysis of the coding region of the leptin gene
(exons 2 and 3) by single-strand conformational polymorphism
revealed a rare Ile-Val polymorphism at amino acid 45 but revealed
no other alterations. These results suggest that the OB
gene is not a major contributor to the phenotype of essential
hypertension in African Americans, although a minor contribution to the
phenotype of extreme obesity in this group cannot be ruled
out.
Key Words: obesity hypertension, essential leptin body mass index
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