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Arteriosclerosis, Thrombosis, and Vascular Biology. 2000;20:2651-2656

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(Arteriosclerosis, Thrombosis, and Vascular Biology. 2000;20:2651.)
© 2000 American Heart Association, Inc.


Atherosclerosis and Lipoproteins

A Locus Influencing Total Serum Cholesterol on Chromosome 19p

Results From an Autosomal Genomic Scan of Serum Lipid Concentrations in Pima Indians

Giuseppina Imperatore; William C. Knowler; David J. Pettitt; Sayuko Kobes; John H. Fuller; Peter H. Bennett; Robert L. Hanson

From the Diabetes and Arthritis Epidemiology Section, Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, Ariz. Dr Pettitt is now at Sansum Medical Research Institute, Santa Barbara, Calif. Dr Fuller is now at the Department of Epidemiology and Public Health, University College London, London, England. Dr Imperatore is now at the Division of Diabetes Translation, Centers for Disease Control, Atlanta, Ga.

Correspondence to Robert L. Hanson, MD, MPH, National Institute of Diabetes and Digestive and Kidney Diseases, 1550 E Indian School Rd, Phoenix AZ 85014. E-mail rhanson{at}phx.niddk.nih.gov

Abstract—A genome-wide linkage study was analyzed to identify loci that influence serum lipid concentrations in Pima Indians. Linkage analyses were conducted for total cholesterol measured in 998 siblings from 292 nuclear families, for total triglycerides in 547 siblings from 188 families, and for high density lipoprotein (HDL) cholesterol in 590 siblings from 201 families. Genotypes were generated for 516 autosomal microsatellite markers. Multipoint variance components methods were used to assess linkage. The strongest evidence for linkage with total cholesterol was on chromosome 19p (lod score 3.89), in the vicinity of the marker D19S1034, which is near the low density lipoprotein receptor gene. The strongest evidence for linkage with HDL cholesterol was on chromosome 3q (lod score 2.64) near D3S3053. For triglycerides, the strongest evidence for linkage was on chromosome 2p near D2S1788 (lod score 1.70) and on chromosome 3p near D3S2406 (lod score 1.77). This genomic scan provides evidence for a locus influencing total cholesterol concentration on chromosome 19p. It also suggests a locus influencing HDL cholesterol on chromosome 3q.


Key Words: cholesterol • HDL cholesterol • linkage • genetics • triglycerides




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