Haplotype analysis of two APOA1MspI polymorphisms in relation to plasma levels of Apo A-I and HDL-cholesterol》.pdfVIP

ATHEROSCLEROSIS ELSEVIER Atherosclerosis 127 (1996) 255S262 Haplotype analysis of two APOAl/Mspl polymorphisms in relation to plasma levels of Apo A-I and HDL-cholesterol’ M. Ilyas Kamboh”,*, Christopher E. Aston”, Cara M. Nestlerode”, Andrea E. McAllister”, Richard F. Hammanb “Department of’ Human Genetics, Graduate School q# Public Health, University of Pittsburgh, Pittsburgh, PA 1.5261, USA bDepartmrnt of Prroentiw Medicine nnd Biometrics, University of‘ Colorado Health Science Center, Denoer, CO 80262, USA Received 25 March 1996; revised 19 August 1996; accepted 20 August 1996 Abstract A common Mspl polymorphism (G/A) in the promoter region of the APOAl gene ( - 75 bp) has been shown to be associated with plasma apo A-I and HDL-C variation in several, but not all, studies. Recently another MspI polymorphic site ( + / - ) in the 5’ region of APOAl ( + 83 bp) has been identified which may also be relevant to HDL metabolism. This study was undertaken to elucidate the individual and combined effects of these two polymorphisms on plasma apo A-I and HDL-C levels in a cohort of 534 normoglycemic US Whites from the San Luis Valley, Colorado. Both polymorphisms were i