Multiple rare alleles contribute to low plasma levels of HDL cholesterol

Science

Volumn 305, Issue 5685, 2004, Pages 869-872

  Cohen, Jonathan C ^a,b   Kiss, Robert S ^c   Pertsemlidis, Alexander ^a   Marcel, Yves L ^c   McPherson, Ruth ^c   Hobbs, Helen H ^a,b  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^c UNIVERSITY OF OTTAWA HEART INSTITUTE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

BIOCHEMISTRY; DNA SEQUENCES; GENETIC ENGINEERING; PROTEINS;

HERITABLE VARIATIONS; HIGH-DENSITY LIPOPROTEIN CHOLESTEROL (HDL-C); PHENOTYPIC EFFECTS; PLASMA LEVELS;

CHOLESTEROL;

HIGH DENSITY LIPOPROTEIN CHOLESTEROL;

BIOLOGY;

ABCA1 GENE; ALLELE; APOA1 GENE; ARTICLE; CHOLESTEROL BLOOD LEVEL; DNA POLYMORPHISM; DNA SEQUENCE; GENE; HUMAN; LCAT GENE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL;

ADULT; AFRICAN CONTINENTAL ANCESTRY GROUP; AGED; ALLELES; AMINO ACID SUBSTITUTION; APOLIPOPROTEIN A-I; ATP-BINDING CASSETTE TRANSPORTERS; CHOLESTEROL, HDL; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; PHOSPHATIDYLCHOLINE-STEROL O-ACYLTRANSFERASE; QUANTITATIVE TRAIT, HERITABLE; VARIATION (GENETICS);

EID: 3843056691     PISSN: 00368075     EISSN: None     Source Type: Journal    
DOI: 10.1126/science.1099870     Document Type: Article

References (20)

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17. Details of each sequence variant are provided at http://pga.swmed.edu.
18. Single-letter abbreviations for the amino acid residues are as follows: A, Ala; C, Cys; D, Asp; E, Glu; F, Phe; G, Gly; H, His; I, Ile; K, Lys; L, Leu; M, Met; N, Asn; P, Pro; Q, Gln; R, Arg; S, Ser, T, Thr; V, Val; W, Trp; and Y, Tyr.
19. A detailed explanation of PolyPhen scoring criteria is available at http://tux.embl-heidelberg.de/ramensky/ doc/pph_help.html.
20. We thank R. Wilson, S. Niu, and J. Horton for DNA sequencing; J. Schageman, N. Prikhodko, and A. Patel for analysis of the sequence data; and M. Brown, J. Goldstein, and S. Sunyaev for helpful discussions. This study was supported by grants from NIH (HL53917), National Heart, Lung, and Blood Institute Program for Genomic Applications (UO1-HL66B80), Fondation Le Ducq, Heart and Stroke Foundation of Canada, and Canadian Institutes of Health Research (64519, CIHR-RD, and DOP-51714).