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Association of Low-Frequency and Rare Coding-Sequence Variants with Blood Lipids and Coronary Heart Disease in 56,000 Whites and Blacks

Peloso, Gina m ; Auer, Paul l ; Bis, Joshua c ; Voorman, Arend ; Morrison, Alanna c ; Stitziel, Nathan o ; Brody, Jennifer a ; Khetarpal, Sumeet a ; Crosby, Jacy r ; Fornage, Myriam ; Isaacs, Aaron ; Jakobsdottir, Johanna ; Nhlbi Go Exome Sequencing Project (Corporate Author)

The American Journal of Human Genetics, 06 February 2014, Vol.94(2), pp.223-232 [Rivista Peer Reviewed]

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  • Titolo:
    Association of Low-Frequency and Rare Coding-Sequence Variants with Blood Lipids and Coronary Heart Disease in 56,000 Whites and Blacks
  • Autore: Peloso, Gina m ; Auer, Paul l ; Bis, Joshua c ; Voorman, Arend ; Morrison, Alanna c ; Stitziel, Nathan o ; Brody, Jennifer a ; Khetarpal, Sumeet a ; Crosby, Jacy r ; Fornage, Myriam ; Isaacs, Aaron ; Jakobsdottir, Johanna
  • Altro autore/Curatore: Nhlbi Go Exome Sequencing Project (Corporate Author)
  • Note di contenuto: Low-frequency coding DNA sequence variants in the proprotein convertase subtilisin/kexin type 9 gene (PCSK9) lower plasma low-density lipoprotein cholesterol (LDL-C), protect against risk of coronary heart disease (CHD), and have prompted the development of a new class of therapeutics. It is uncertain whether the PCSK9 example represents a paradigm or an isolated exception. We used the “Exome Array” to genotype 200,000 low-frequency and rare coding sequence variants across the genome in 56,538 individuals (42,208 European ancestry [EA] and 14,330 African ancestry [AA]) and tested these variants for association with LDL-C, high-density lipoprotein cholesterol (HDL-C), and triglycerides. Although we did not identify new genes associated with LDL-C, we did identify four low-frequency (frequencies between 0.1% and 2%) variants (ANGPTL8 rs145464906 [c.361CT; p.Gln121∗], PAFAH1B2 rs186808413 [c.482CT; p.Ser161Leu], COL18A1 rs114139997 [c.331GA; p.Gly111Arg], and PCSK7...
  • Fa parte di: The American Journal of Human Genetics, 06 February 2014, Vol.94(2), pp.223-232
  • Soggetti: Biology
  • Lingua: Inglese
  • Tipo: Articolo
  • Identificativo: ISSN: 0002-9297 ; E-ISSN: 1537-6605 ; DOI: 10.1016/j.ajhg.2014.01.009
  • Fonte: ScienceDirect Journals (Elsevier)

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