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. 2017 Feb 10;9:20. doi: 10.3389/fnagi.2017.00020

Table 3.

SNPs within loci associated with protein and membrane trafficking recognized as PD susceptibility factors by GWASs.

Gene/locus SNP MAF (1000 genomes project) Risk allele: OR Study
TMEM175/GAK/DGKQ Ch 4 rs34311866 g.951947T>C p.Met311Thr (missense variant) C = 0.1400 C: OR = 1.27 Nalls et al., 2014
rs11248060 g.964359C>T (intron variant) T = 0.1066 OR = 1.21 Lill et al., 2012
OR = 1.26 Pankratz et al., 2012
NA Edwards et al., 2010
rs6599388 g.939087C>T (intron variant) T = 0.3243 T: OR = 1.16 Nalls et al., 2011
rs11248051 g.858332C>T (intron variant) T = 0.0966 T: OR = 1.46 Hamza et al., 2010
rs6599389 g.939113G>A (intron variant) A = 0.1092 A: OR = 1.31 Do et al., 2011
NUCKS1/RAB7L1 Ch 1 rs823118 g.205723572C>T (upstream gene variant) T = 0.4111 T: OR = 1.122 Nalls et al., 2014
rs947211 g.205752665A>G (intergenic variant) A = 0.4613 OR = 1.3 Satake et al., 2009
rs823128 g.205713378G>A (intron variant) G = 0.1765 A: OR = 1.52 Simon-Sanchez et al., 2009
rs823114 g.205719532G>A c.-431C>T (upstream gene variant) A = 0.4073 OR = 1.33 Vacic et al., 2014
LRRK2 Ch 12 rs76904798 g.40614434C>T (intron variant) T = 0.1318 T: OR = 1.155 Nalls et al., 2014
rs34637584 g.40734202G>A p.Gly2019Ser (missense variant) A = 0.0002 A: OR = 9.62 Do et al., 2011
rs1442190 g.41365640G>A c.*325G>A A = 0.0747 OR = 3.72 Vacic et al., 2014
rs34778348 g.40757328G>A p.Gly2385Arg (missense variant) A = 0.0048 OR = 2.23 Lill et al., 2012
rs1491942 g.40620808C>G c.237+1366C>G (intron variant) G = 0.2979 OR = 1.17 Lill et al., 2012
G: OR = 1.27 Nalls et al., 2011
rs1994090 g.40428561G>T c.717-6250C>A (intron variant) G = 0.1472 OR = 1.39 Satake et al., 2009
INPP5F Ch 10 rs117896735 g.121536327G>A c.179-4820G>A (intron variant) A = 0.0040 A: OR = 1.624 Nalls et al., 2014
BCKDK/STX1B Ch 16 rs14235 g.31110472G>A c.615G>A p.Thr205 = (synonymous variant) A = 0.3592 A: OR = 1.103 Nalls et al., 2014
VPS13C Ch 15 rs2414739 g.61701935G>A (intron variant) G = 0.3209 A: OR = 1.113 Nalls et al., 2014

NA, data not available; Ch, Chromosome. Data compiled from the GWAS catalog database, the dbSNP and the e!Ensembl (Sherry et al., 2001; Welter et al., 2014; Yates et al., 2016).

*

Denotes SNPs in 3'-UTR.