Title | Relation of PCSK9 mutations to serum low-density lipoprotein cholesterol in childhood and adulthood (from The Bogalusa Heart Study). |
Publication Type | Journal Article |
Year of Publication | 2007 |
Authors | D Hallman, M, Srinivasan, SR, Chen, W, Boerwinkle, E, Berenson, GS |
Journal | Am J Cardiol |
Volume | 100 |
Issue | 1 |
Pagination | 69-72 |
Date Published | 2007 Jul 01 |
ISSN | 0002-9149 |
Keywords | Alleles, Black or African American, Cholesterol, LDL, Codon, Nonsense, Coronary Disease, Female, Humans, Louisiana, Male, Mutation, Missense, Proprotein Convertase 9, Proprotein Convertases, Risk Factors, Serine Endopeptidases, White People |
Abstract | Specific mutations in the gene for proprotein convertase, subtilisin-kexin type 9 (PCSK9), that are associated with lower coronary heart disease risk may produce lifelong decreases in low-density lipoprotein (LDL) cholesterol levels, but data on their effects in younger subjects are lacking. We analyzed associations of 1 missense (R46L) and 2 nonsense (Y142X and C679X) PCSK9 mutations with serum LDL cholesterol in 478 African-Americans and 1,086 whites, 4 to 38 years of age, examined 3 to 8 times in the Bogalusa Heart Study. L46 allele frequency in whites was 0.017 +/- 0.003; the combined frequency of X142 or X679 alleles in African-Americans was 0.016 +/- 0.005. In whites, LDL cholesterol was lower in L46 carriers (78.9 +/- 21.8 mg/dl) than in noncarriers (89.7 +/- 24.9 mg/dl, p = 0.027) at their first examination (mean age 9.4 +/- 3.2 years). African-Americans carrying the X142 or X679 allele had lower LDL cholesterol levels than did noncarriers (77.3 +/- 15.1 vs 91.4 +/- 23.9 mg/dl, p = 0.043) at their first examination (mean age 9.0 +/- 3.0 years). Longitudinal LDL cholesterol profiles were significantly lower in whites with the L46 allele and in African-Americans with the X142 or X679 allele. In conclusion, our results show that these PCSK9 variants are associated with significantly lower LDL cholesterol levels starting in childhood. |
DOI | 10.1016/j.amjcard.2007.02.057 |
Alternate Journal | Am J Cardiol |
PubMed ID | 17599443 |
Grant List | R01 HL070568 / HL / NHLBI NIH HHS / United States AG16592 / AG / NIA NIH HHS / United States HL70568 / HL / NHLBI NIH HHS / United States |
Relation of PCSK9 mutations to serum low-density lipoprotein cholesterol in childhood and adulthood (from The Bogalusa Heart Study).
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