PMID: 28951389

Genetically Determined Plasma Lipid Levels and Risk of Diabetic Retinopathy: A Mendelian Randomization Study.

Diabetes
L Sobrin, YH Chong, Q Fan, A Gan, LK Stanwyck, G Kaidonis, JE Craig, J Kim, WL Liao, YC Huang, WJ Lee, YJ Hung, X Guo, Y Hai, E Ipp, S Pollack, H Hancock, A Price, A Penman, P Mitchell, G Liew, AV Smith, V Gudnason, G Tan, BEK Klein, J Kuo, X Li, MW Christiansen, BM Psaty, K Sandow, , RA Jensen, R Klein, MF Cotch, JJ Wang, Y Jia, CJ Chen, YI Chen, JI Rotter, FJ Tsai, CL Hanis, KP Burdon, TY Wong, CY Cheng
2017-12

115 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
17-64210580-A-C APOH c.973T>G p.Cys325Gly Missense 7/8 -
19-8433196-C-A ANGPTL4 c.548-907C>A - IntronicSNV - 3/6
19-7224431-G-A INSR c.653-39783C>T - IntronicSNV - 2/21
19-33899065-G-A PEPD c.818+3513C>T - IntronicSNV - 11/14
10-46013277-A-C MARCH8 c.102+15281T>G - IntronicSNV - 2/6
20-39672618-T-A TOP1 c.58+14523T>A - IntronicSNV - 2/20
8-10683929-G-C PINX1 c.302-175C>G - IntronicSNV - 4/6
8-10683929-G-T PINX1 c.302-175C>A - IntronicSNV - 4/6
3-52532118-A-T STAB1 c.78+2611A>T - IntronicSNV - 1/68
7-116358044-A-T MET c.1201-13678A>T - IntronicSNV - 2/20
7-116358044-A-G MET c.1201-13678A>G - IntronicSNV - 2/20
19-11202306-G-T LDLR c.67+2015G>T - IntronicSNV - 1/17
1-93009438-C-A EVI5 c.2118+19761G>T - IntronicSNV - 17/17
12-57707295-C-T R3HDM2 c.1-3084G>A - IntergenicSNV - 1/23
2-169830155-G-A ABCB11 c.1434+70C>T - IntronicSNV - 13/27
22-38546033-T-A PLA2G6 c.210-4373A>T - IntronicSNV - 2/15
22-38546033-T-C PLA2G6 c.210-4373A>G - IntronicSNV - 2/15
16-81534790-T-A CMIP c.18+5691T>A - IntronicSNV - 1/20
17-45425115-G-T EFCAB13 c.518-59G>T - IntronicSNV - 8/24
17-45425115-G-A EFCAB13 c.518-59G>A - IntronicSNV - 8/24
12-121416650-A-C HNF1A c.79A>C p.Ile27Leu Missense 1/10 -
22-30378703-C-T MTMR3 c.210+3662C>T - IntronicSNV - 5/19
2-211540489-C-A CPS1 c.4217C>A p.Ala1406Asp Missense 37/39 -
10-46013277-A-T MARCH8 c.102+15281T>A - IntronicSNV - 2/6
11-65391317-G-A PCNX3 c.2512-83G>A - IntronicSNV - 12/34
3-32533010-C-T CMTM6 c.315+192G>A - IntronicSNV - 2/3
16-72108093-G-A HPR c.92-90G>A - IntronicSNV - 2/4
3-50129399-C-T RBM5 c.18-77C>T - IntronicSNV - 2/24
1-220973563-C-T MARC1 c.753+2207C>T - IntronicSNV - 4/6
2-21263900-G-A APOB c.293C>T p.Thr98Ile Missense 4/29 -
6-160578860-T-C SLC22A1 c.1599-688T>C - IntronicSNV - 10/10
3-47061183-G-A SETD2 c.7431+67C>T - IntronicSNV - 19/20
3-47061183-G-C SETD2 c.7431+67C>G - IntronicSNV - 19/20
12-125265689-C-T SCARB1 c.*1540G>A - IntronicSNV 13/13 -
1-109818306-G-T CELSR2 c.*1635G>T - 3-UTRSNV 34/34 -
7-17919258-G-T SNX13 c.441-3845C>A - IntronicSNV - 5/25
17-76403984-G-A PGS1 c.1402+3814G>A - IntronicSNV - 7/9
7-17919258-G-A SNX13 c.441-3845C>T - IntronicSNV - 5/25
7-6449272-A-G DAGLB c.*196T>C - 3-UTRSNV 15/15 -
2-44072576-G-C ABCG8 c.166-718G>C - IntronicSNV - 2/12
12-124460167-G-T ZNF664 c.-757+1600G>T - intron_variant - 2/4
3-52532118-A-G STAB1 c.78+2611A>G - IntronicSNV - 1/68
11-18632984-T-C SPTY2D1 c.1964+40A>G - IntronicSNV - 5/5
5-53298025-G-A ARL15 c.462+111007C>T - IntronicSNV - 4/4
7-1083777-A-G C7orf50 c.130-33998T>C - IntronicSNV - 2/4
2-135837906-C-A RAB3GAP1 c.151-10662C>A - IntronicSNV - 3/23
9-15305378-G-C TTC39B c.240+1704C>G - IntronicSNV - 1/19
1-40028180-A-C PABPC4 c.1669-92T>G - IntronicSNV - 12/15
1-40028180-A-G PABPC4 c.1669-92T>C - IntronicSNV - 12/15
16-81534790-T-C CMIP c.18+5691T>C - IntronicSNV - 1/20
12-110000193-C-G MMAB c.349-536G>C - IntronicSNV - 4/8
11-46743247-T-C F2 c.316+857T>C - IntronicSNV - 4/13
15-42683787-G-A CAPN3 c.946-1050G>A - IntronicSNV - 6/23
4-88030261-G-T AFF1 c.1512+794G>T - IntronicSNV - 10/19
9-107664301-C-T ABCA1 c.66+1594G>A - IntronicSNV - 2/49
16-67928042-G-A PSKH1 c.-71+768G>A - intron_variant - 1/2
22-35711098-A-G TOM1 c.53-2772A>G - IntronicSNV - 1/14
8-116599199-T-G TRPS1 c.2700+29A>C - IntronicSNV - 5/6
8-116599199-T-C TRPS1 c.2700+29A>G - IntronicSNV - 5/6
3-119560606-T-A GSK3B c.1195+1496A>T - IntronicSNV - 10/10
3-119560606-T-C GSK3B c.1195+1496A>G - IntronicSNV - 10/10
2-234679384-C-T UGT1A1 c.1305-1524C>T - IntronicSNV - 4/4
1-93009438-C-G EVI5 c.2118+19761G>C - IntronicSNV - 17/17
7-44579180-G-C NPC1L1 c.816C>G p.Leu272Leu Synonymous 2/20 -
7-44579180-G-A NPC1L1 c.816C>T p.Leu272Leu Synonymous 2/20 -
3-58381287-G-A PXK c.721-98G>A - IntronicSNV - 8/17
20-43042364-C-T HNF4A c.416C>T p.Thr139Ile Missense 4/10 -
14-24883887-G-A NYNRIN c.2932G>A p.Ala978Thr Missense 9/9 -
17-66875294-C-G ABCA8 c.3919-1474G>C - IntronicSNV - 30/37
19-11347493-T-C DOCK6 c.2136A>G p.Thr712Thr Synonymous 19/48 -
12-110000193-C-T MMAB c.349-536G>A - IntronicSNV - 4/8
3-11400249-C-T ATG7 c.1479+163C>T - IntronicSNV - 13/18
16-15129940-C-T PDXDC1 c.2175C>T p.His725His Synonymous 23/23 -
16-15129940-C-A PDXDC1 c.2175C>A p.His725Gln Missense 23/23 -
15-44245931-A-T FRMD5 c.103-29424T>A - IntronicSNV - 1/13
3-11400249-C-A ATG7 c.1479+163C>A - IntronicSNV - 13/18
11-118486067-T-C PHLDB1 c.184+670T>C - IntronicSNV - 4/23
2-165540800-T-C COBLL1 c.*1656A>G - 3-UTRSNV 14/14 -
1-230295691-G-A GALNT2 c.127-18273G>A - IntronicSNV - 1/15
9-2640759-A-G VLDLR c.326-618A>G - IntronicSNV - 3/18
5-74656539-T-C HMGCR c.*372T>C - 3-UTRSNV 20/20 -
1-63025942-G-T DOCK7 c.2200-1051C>A - IntronicSNV - 19/48
1-150958836-A-G ANXA9 c.497A>G p.Asp166Gly Missense 8/14 -
19-49206417-A-G FUT2 c.204A>G p.Ala68Ala Synonymous 2/2 -
4-3473139-A-G DOK7 c.101-1994A>G - IntronicSNV - 2/6
19-52324216-G-C FPR3 c.1-2786G>C - IntronicSNV - 1/1
19-52324216-G-A FPR3 c.1-2786G>A - IntronicSNV - 1/1
16-53809247-G-A FTO c.46-34805G>A - IntronicSNV - 1/8
2-44072576-G-T ABCG8 c.166-718G>T - IntronicSNV - 2/12
22-46627603-C-T PPARA c.712-86C>T - IntronicSNV - 6/7
8-145043543-A-G PLEC c.193+5802T>C - IntronicSNV - 2/32
5-74656539-T-G HMGCR c.*372T>G - 3-UTRSNV 20/20 -
12-121416650-A-T HNF1A c.79A>T p.Ile27Phe Missense 1/10 -
17-37813856-G-C STARD3 c.298-172G>C - IntronicSNV - 3/14
11-126243952-G-A ST3GAL4 c.-61+17755G>A - intron_variant - 1/10
13-32953388-T-C BRCA2 c.8755-66T>C - IntronicSNV - 21/26
2-203532304-A-G FAM117B c.602-28300A>G - IntronicSNV - 1/7
1-23766233-C-T ASAP3 c.945-510G>A - IntronicSNV - 10/24
12-123796238-C-T SBNO1 c.3218-562G>A - IntronicSNV - 24/31
7-72129667-C-T TYW1B c.1506+30010G>A - intron_variant - 12/14
1-156700651-T-G RRNAD1 c.112-1132T>G - IntronicSNV - 1/7
17-64210580-A-G APOH c.973T>C p.Cys325Arg Missense 7/8 -
3-12628920-G-C RAF1 c.1417+170C>G - IntronicSNV - 13/16
10-113933886-A-T GPAM c.414-283T>A - IntronicSNV - 6/21
7-72982874-C-T TBL2 c.*1963G>A - IntergenicSNV 7/7 -
10-113933886-A-G GPAM c.414-283T>C - IntronicSNV - 6/21
3-132163200-G-T DNAJC13 c.69-2119G>T - IntronicSNV - 2/55
4-89741269-G-C FAM13A c.29+2858C>G - IntronicSNV - 1/17
4-89741269-G-A FAM13A c.29+2858C>T - IntronicSNV - 1/17
12-9082581-A-G PHC1 c.613-450A>G - IntronicSNV - 6/14
10-5254847-A-G AKR1C4 c.681-110A>G - IntronicSNV - 6/8
6-116312893-A-T FRK c.466+12147T>A - IntronicSNV - 2/7
16-53809247-G-C FTO c.46-34805G>C - IntronicSNV - 1/8
6-32412435-G-A HLA-DRA c.*18G>A - 3_prime_UTR_variant 5/5 -
2-63149557-G-A EHBP1 c.1291-20296G>A - IntronicSNV - 11/24