PMID: 24100633

No evidence of interaction between known lipid-associated genetic variants and smoking in the multi-ethnic PAGE population.

Human genetics
L Dumitrescu, CL Carty, N Franceschini, LA Hindorff, SA Cole, P Bůžková, FR Schumacher, CB Eaton, RJ Goodloe, DJ Duggan, J Haessler, B Cochran, BE Henderson, I Cheng, KC Johnson, CS Carlson, SA Love, K Brown-Gentry, AQ Nato, M Quibrera, RV Shohet, JL Ambite, LR Wilkens, L Le Marchand, CA Haiman, S Buyske, C Kooperberg, KE North, M Fornage, DC Crawford
2013-12

21 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11210912-C-G LDLR c.81C>G p.Cys27Trp Missense 2/18 -
19-11210912-C-T LDLR c.81C>T p.Cys27Cys Synonymous 2/18 -
19-11210912-C-A LDLR c.81C>A p.Cys27* Nonsense 2/18 -
15-58727325-A-G LIPC c.88+3006A>G - IntronicSNV - 1/8
1-63049593-C-G DOCK7 c.1801-668G>C - IntronicSNV - 15/48
12-109895168-C-G KCTD10 c.527+267G>C - IntronicSNV - 5/6
11-116662407-G-A APOA5 c.56C>T p.Ser19Leu Missense 3/4 -
1-230294916-C-T GALNT2 c.127-19048C>T - IntronicSNV - 1/15
1-63049593-C-T DOCK7 c.1801-668G>A - IntronicSNV - 15/48
5-74648603-A-T HMGCR c.1368+1176A>T - IntronicSNV - 11/19
16-56997233-G-A CETP c.233+197G>A - IntronicSNV - 2/15
11-116619073-C-T BUD13 c.*125G>A - 3-UTRSNV 10/10 -
11-116619073-C-G BUD13 c.*125G>C - 3-UTRSNV 10/10 -
16-56919348-C-G SLC12A3 c.1925+72C>G - IntronicSNV - 15/25
9-15289578-C-T TTC39B c.240+17504G>A - IntronicSNV - 1/19
9-107647220-C-T ABCA1 c.161-371G>A - IntronicSNV - 3/49
16-56919348-C-A SLC12A3 c.1925+72C>A - IntronicSNV - 15/25
2-21232195-G-A APOB c.7545C>T p.Thr2515Thr Synonymous 26/29 -
20-44576502-T-C PCIF1 c.*108T>C - 3-UTRSNV 17/17 -
9-107647655-G-T ABCA1 c.161-806C>A - IntronicSNV - 3/49
9-107647655-G-A ABCA1 c.161-806C>T - IntronicSNV - 3/49