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A Common PCSK9 Haplotype, Encompassing the E670G Coding Single Nucleotide Polymorphism, Is a Novel Genetic Marker for Plasma Low-Density Lipoprotein Cholesterol Levels and Severity of Coronary Atherosclerosis

Suet N. Chen, MS^_*, Christie M. Ballantyne, MD, FACC^_*, Antonio M. Gotto, Jr, MD, DPhil, FACC, Yanli Tan, RN^_*, James T. Willerson, MD, FACC and Ali J. Marian, MD, FACC^_*,_*

^_* Sections of Cardiology and Atherosclerosis, Center for Preventive Cardiology, Department of Medicine, Baylor College of Medicine, Houston, Texas
Weill Medical College of Cornell University, New York, New York
University of Texas Health Science Center, Houston, Texas

View larger version (25K): [in a new window]   Figure 1 Schematic diagram showing structure of PCSK9 and exons/introns, location of single nucleotide polymorphisms (SNPs), and polymorphisms. Segments of the gene corresponding to neural apoptosis-regulated convertase-1 domains are shown. The reference number (rs) and the frequency (f) of the less common allele for each SNP are also shown. Polymorphisms shown in boxes, representing the Ln short tandem repeat, nonsynonymous coding SNPs, and those located in intron-exon boundaries, were genotyped and analyzed for haplotype reconstruction and linkage disequilibrium studies.

View larger version (55K): [in a new window]   Figure 2 Plasma low-density lipoprotein cholesterol (LDL-C) levels according to haplotypes (A) and E670G genotypes (B). (A) Referent indicates subjects homozygous for the most common haplotype (haplotype 2+/+). Haplotype 3–/referent– indicates subjects with neither haplotype 3 nor the reference haplotype; haplotype 3+ identifies heterozygous (N = 35) and homozygous (N = 2) subjects with haplotype 3; haplotype 3+/haplotype 2– denotes subjects with haplotype 3 but no haplotype 2. Mean values of LDL-C, standard deviation of the mean, and the number of subjects are indicated in each graph. The results of pairwise t test are shown. (B) The mean values among the three genotypes were compared by analysis of variance and depicted. Pairwise comparisons showed statistically significant differences between AA and GG (p = 0.007) as well as between AG and GG (p = 0.011), but not between AA and AG (p = 0.321).