PMID: 28426890

Fine-mapping of lipid regions in global populations discovers ethnic-specific signals and refines previously identified lipid loci.

Human molecular genetics
N Zubair, M Graff, J Luis Ambite, WS Bush, G Kichaev, Y Lu, A Manichaikul, WH Sheu, D Absher, TL Assimes, SJ Bielinski, EP Bottinger, P Buzkova, LM Chuang, RH Chung, B Cochran, L Dumitrescu, O Gottesman, JW Haessler, C Haiman, G Heiss, CA Hsiung, YJ Hung, CM Hwu, JJ Juang, L Le Marchand, IT Lee, WJ Lee, LA Lin, D Lin, SY Lin, RH Mackey, LW Martin, B Pasaniuc, U Peters, I Predazzi, T Quertermous, AP Reiner, J Robinson, JI Rotter, KK Ryckman, PJ Schreiner, E Stahl, R Tao, MY Tsai, LL Waite, TD Wang, S Buyske, YD Ida Chen, I Cheng, DC Crawford, RJF Loos, SS Rich, M Fornage, KE North, C Kooperberg, CL Carty
2016-12-15

112 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-72108093-G-A HPR c.92-90G>A - IntronicSNV - 2/4
16-57006378-A-G CETP c.750+383A>G - IntronicSNV - 8/15
2-44074431-C-T ABCG8 c.322+981C>T - IntronicSNV - 3/12
19-19466421-G-A MAU2 c.1768-96G>A - IntronicSNV - 18/18
19-45400747-T-A TOMM40 c.644-3240T>A - IntronicSNV - 6/9
2-21263900-G-A APOB c.293C>T p.Thr98Ile Missense 4/29 -
2-21226252-A-G APOB c.12088-46T>C - IntronicSNV - 28/28
8-19824492-T-C LPL c.*1671T>C - 3-UTRSNV 10/10 -
8-19824492-T-A LPL c.*1671T>A - 3-UTRSNV 10/10 -
12-125265689-C-T SCARB1 c.*1540G>A - IntronicSNV 13/13 -
7-73029437-C-T MLXIPL c.400+964G>A - IntronicSNV - 2/16
6-160564476-C-G SLC22A1 c.1277-97C>G - IntronicSNV - 7/10
1-62996838-C-T DOCK7 c.3519-1721G>A - IntronicSNV - 28/48
9-136127601-G-A ABO c.*3452C>T - 3_prime_UTR_variant 8/8 -
8-19803137-T-C LPL c.89-2554T>C - IntronicSNV - 1/9
6-160559807-C-A SLC22A1 c.1062-878C>A - IntronicSNV - 6/10
1-109817590-G-T CELSR2 c.*919G>T - 3-UTRSNV 34/34 -
4-88051908-G-A AFF1 c.2944-327G>A - IntronicSNV - 15/19
16-67770828-T-C RANBP10 c.591+1088A>G - IntronicSNV - 5/13
11-116657561-C-T ZPR1 c.424+124G>A - IntronicSNV - 3/13
9-15305378-G-C TTC39B c.240+1704C>G - IntronicSNV - 1/19
8-19819439-A-G LPL c.1323-187A>G - IntronicSNV - 8/9
2-44072576-G-C ABCG8 c.166-718G>C - IntronicSNV - 2/12
12-109997645-G-A MMAB c.585-685C>T - IntronicSNV - 7/8
12-109997645-G-C MMAB c.585-685C>G - IntronicSNV - 7/8
11-116661392-C-A APOA5 c.553G>T p.Gly185Cys Missense 4/4 -
11-46743247-T-C F2 c.316+857T>C - IntronicSNV - 4/13
9-107665739-G-A ABCA1 c.66+156C>T - IntronicSNV - 2/49
11-116661392-C-T APOA5 c.553G>A p.Gly185Ser Missense 4/4 -
15-42683787-G-A CAPN3 c.946-1050G>A - IntronicSNV - 6/23
19-11202569-G-A LDLR c.67+2278G>A - IntronicSNV - 1/17
9-107664301-C-T ABCA1 c.66+1594G>A - IntronicSNV - 2/49
19-11202569-G-T LDLR c.67+2278G>T - IntronicSNV - 1/17
4-88030261-G-T AFF1 c.1512+794G>T - IntronicSNV - 10/19
8-19824667-C-T LPL c.*1846C>T - 3-UTRSNV 10/10 -
16-67928042-G-A PSKH1 c.-71+768G>A - intron_variant - 1/2
1-55523802-A-G PCSK9 c.1274A>G p.Asn425Ser Missense 8/12 -
1-230294916-C-T GALNT2 c.127-19048C>T - IntronicSNV - 1/15
2-21225281-C-T APOB c.13013G>A p.Ser4338Asn Missense 29/29 -
20-43042364-C-T HNF4A c.416C>T p.Thr139Ile Missense 4/10 -
16-67997920-T-C SLC12A4 c.116-458A>G - IntronicSNV - 1/23
19-19468260-C-T MAU2 c.*1669C>T - 3-UTRSNV 19/19 -
11-116652207-C-T ZPR1 c.1179+667G>A - IntronicSNV - 12/13
5-74909446-C-G ANKDD1B c.193+1794C>G - IntronicSNV - 1/13
19-45410548-A-G APOE c.44-469A>G - IntronicSNV - 2/3
11-116660686-G-A APOA5 c.*158C>T - 3-UTRSNV 4/4 -
1-55505647-G-A PCSK9 c.137G>A p.Arg46His Missense 1/12 -
15-58724842-G-A LIPC c.88+523G>A - IntronicSNV - 1/8
17-66875294-C-G ABCA8 c.3919-1474G>C - IntronicSNV - 30/37
1-63025942-G-T DOCK7 c.2200-1051C>A - IntronicSNV - 19/48
2-165540800-T-C COBLL1 c.*1656A>G - 3-UTRSNV 14/14 -
16-56996211-G-A CETP c.118+202G>A - IntronicSNV - 1/15
1-230295691-G-A GALNT2 c.127-18273G>A - IntronicSNV - 1/15
5-74656539-T-C HMGCR c.*372T>C - 3-UTRSNV 20/20 -
1-62922660-G-A DOCK7 c.6287+549C>T - IntronicSNV - 48/48
2-21252534-G-A APOB c.1594C>T p.Arg532Trp Missense 12/29 -
16-56995935-C-A CETP c.44C>A p.Ala15Asp Missense 1/16 -
2-44066247-G-C ABCG8 c.55G>C p.Asp19His Missense 1/13 -
16-57006590-C-G CETP c.750+595C>G - IntronicSNV - 8/15
1-55523855-G-C PCSK9 c.1327G>C p.Ala443Pro Missense 8/12 -
16-56995935-C-G CETP c.44C>G p.Ala15Gly Missense 1/16 -
16-57006590-C-T CETP c.750+595C>T - IntronicSNV - 8/15
7-73012785-A-G MLXIPL c.1072-742T>C - IntronicSNV - 8/16
11-61597972-A-G FADS2 c.207+1903A>G - IntronicSNV - 1/11
16-57007353-C-T CETP c.861C>T p.Phe287Phe Synonymous 9/16 -
9-107665978-C-T ABCA1 c.1-18G>A - 5-UTRSNV 2/50 -
2-44072576-G-T ABCG8 c.166-718G>T - IntronicSNV - 2/12
19-19455750-G-A MAU2 c.1155+15G>A - IntronicSNV - 11/18
5-74656539-T-G HMGCR c.*372T>G - 3-UTRSNV 20/20 -
9-107665978-C-G ABCA1 c.1-18G>C - 5-UTRSNV 2/50 -
2-44068341-C-T ABCG8 c.63+2086C>T - IntronicSNV - 1/12
11-116662407-G-C APOA5 c.56C>G p.Ser19Trp Missense 3/4 -
11-116662407-G-A APOA5 c.56C>T p.Ser19Leu Missense 3/4 -
17-38062976-G-C GSDMB c.662-452C>G - IntronicSNV - 4/7
2-27742603-T-C GCKR c.1572+799T>C - IntronicSNV - 17/18
11-126243952-G-A ST3GAL4 c.-61+17755G>A - intron_variant - 1/10
2-44066247-G-A ABCG8 c.55G>A p.Asp19Asn Missense 1/13 -
7-73020337-C-G MLXIPL c.723G>C p.Gln241His Missense 6/17 -
11-116884789-G-A SIK3 c.274-57009C>T - intron_variant - 1/23
11-116619073-C-G BUD13 c.*125G>C - 3-UTRSNV 10/10 -
17-37813856-G-C STARD3 c.298-172G>C - IntronicSNV - 3/14
7-72129667-C-T TYW1B c.1506+30010G>A - intron_variant - 12/14
11-116619073-C-T BUD13 c.*125G>A - 3-UTRSNV 10/10 -
11-47259668-T-C DDB2 c.1189-21T>C - IntronicSNV - 8/9
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
7-72982874-C-T TBL2 c.*1963G>A - IntergenicSNV 7/7 -
1-55529215-C-T PCSK9 c.2037C>T p.Cys679Cys Synonymous 12/12 -
19-19596340-G-A GATAD2A c.270-6775G>A - IntronicSNV - 2/11
16-56996211-G-C CETP c.118+202G>C - IntronicSNV - 1/15
2-44073881-T-C ABCG8 c.322+431T>C - IntronicSNV - 3/12
16-72098952-C-T HPR c.5+1793C>T - IntronicSNV - 1/4
8-19823192-T-C LPL c.*371T>C - 3-UTRSNV 10/10 -
9-107665978-C-A ABCA1 c.1-18G>T - 5-UTRSNV 2/50 -
5-74909446-C-T ANKDD1B c.193+1794C>T - IntronicSNV - 1/13
5-74753634-A-G COL4A3BP c.348+1256T>C - IntronicSNV - 3/17
16-72089451-T-C HP c.6-609T>C - IntronicSNV - 1/6
11-116662579-C-T APOA5 c.1-3G>A - 5-UTRSNV 2/4 -
16-67719184-C-T GFOD2 c.259+176G>A - IntronicSNV - 2/2
8-10683929-G-C PINX1 c.302-175C>G - IntronicSNV - 4/6
8-10683929-G-T PINX1 c.302-175C>A - IntronicSNV - 4/6
12-57707295-C-T R3HDM2 c.1-3084G>A - IntergenicSNV - 1/23
2-44068341-C-G ABCG8 c.63+2086C>G - IntronicSNV - 1/12
1-62996838-C-G DOCK7 c.3519-1721G>C - IntronicSNV - 28/48
20-39713869-G-A TOP1 c.614+661G>A - IntronicSNV - 8/20
11-61579760-T-C FADS1 c.684+183A>G - IntronicSNV - 3/11
16-72089451-T-G HP c.6-609T>G - IntronicSNV - 1/6
1-55523855-G-A PCSK9 c.1327G>A p.Ala443Thr Missense 8/12 -
2-44074431-C-A ABCG8 c.322+981C>A - IntronicSNV - 3/12
17-38062976-G-A GSDMB c.662-452C>T - IntronicSNV - 4/7
8-19823648-A-T LPL c.*827A>T - 3-UTRSNV 10/10 -
16-72048632-A-G DHODH c.434+61A>G - IntronicSNV - 3/8
1-62957030-G-A DOCK7 c.5268+1345C>T - IntronicSNV - 40/48