PMID: 32226016

Minority-centric meta-analyses of blood lipid levels identify novel loci in the Population Architecture using Genomics and Epidemiology (PAGE) study.

PLoS genetics
Y Hu, M Graff, J Haessler, S Buyske, SA Bien, R Tao, HM Highland, KK Nishimura, N Zubair, Y Lu, M Verbanck, AT Hilliard, D Klarin, SM Damrauer, YL Ho, , PWF Wilson, KM Chang, PS Tsao, K Cho, CJ O'Donnell, TL Assimes, LE Petty, JE Below, O Dikilitas, DJ Schaid, ML Kosel, IJ Kullo, LJ Rasmussen-Torvik, GP Jarvik, Q Feng, WQ Wei, EB Larson, FD Mentch, B Almoguera, PM Sleiman, LM Raffield, A Correa, LW Martin, M Daviglus, TC Matise, JL Ambite, CS Carlson, R Do, RJF Loos, LR Wilkens, L Le Marchand, C Haiman, DO Stram, LA Hindorff, KE North, C Kooperberg, I Cheng, U Peters
2020-03

27 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
9-2640759-A-G VLDLR c.326-618A>G - IntronicSNV - 3/18
20-5544985-A-C GPCPD1 c.1329+678T>G - IntronicSNV - 15/19
11-116701560-G-T APOC3 c.127G>T p.Ala43Ser Missense 3/4 -
11-116701560-G-A APOC3 c.127G>A p.Ala43Thr Missense 3/4 -
11-116662407-G-C APOA5 c.56C>G p.Ser19Trp Missense 3/4 -
19-45412040-C-T APOE c.487C>T p.Arg163Cys Missense 4/4 -
8-126443274-GCG-TTT TRIB1 c.130_132delGCGinsTTT p.Ala44Phe Missense 1/3 -
12-623129-A-G B4GALNT3 c.170-21203A>G - IntronicSNV - 1/19
12-618790-G-T B4GALNT3 c.170-25542G>T - IntronicSNV - 1/19
16-67976851-C-A LCAT c.340G>T p.Val114Leu Missense 3/6 -
16-67976851-C-G LCAT c.340G>C p.Val114Leu Missense 3/6 -
16-67976851-C-T LCAT c.340G>A p.Val114Met Missense 3/6 -
12-618790-G-C B4GALNT3 c.170-25542G>C - IntronicSNV - 1/19
1-55529215-C-T PCSK9 c.2037C>T p.Cys679Cys Synonymous 12/12 -
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
1-55512222-C-T PCSK9 c.426C>T p.Tyr142Tyr Synonymous 3/12 -
9-107620835-G-A ABCA1 c.688C>T p.Arg230Cys Missense 7/50 -
11-117089205-C-T PCSK7 c.1511G>A p.Arg504His Missense 12/17 -
1-55523855-G-A PCSK9 c.1327G>A p.Ala443Thr Missense 8/12 -
2-74516034-T-C SLC4A5 c.272-3005A>G - IntronicSNV - 2/25
17-53400110-T-C HLF c.*1870T>C - 3-UTRSNV 4/4 -
11-116648917-G-C ZPR1 c.*724C>G - IntergenicSNV 14/14 -
20-5528518-A-G GPCPD1 c.1830-22T>C - IntronicSNV - 19/19
1-109817590-G-T CELSR2 c.*919G>T - 3-UTRSNV 34/34 -
2-74728135-G-C LBX2 c.193+1659C>G - IntronicSNV - 1/1
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
1-55523855-G-C PCSK9 c.1327G>C p.Ala443Pro Missense 8/12 -