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

Table 2.

SNPs within loci associated with protein aggregation recognized as PD susceptibility factors by GWASs.

Gene/locus Chromosome SNP MAF (1000 genomes project) Risk allele: OR Study
SNCA Ch 4 rs356182 g.90626111G>A (intron variant) G = 0.4044 G: OR = 1.32 Nalls et al., 2014
rs356219 g.90637601G>A (intron variant) A = 0.4892 OR = 1.29 Lill et al., 2012
G: OR = 1.29 Nalls et al., 2011
rs356220 g.90641340T>C (intron variant) C = 0.4834 OR = 1.38 Pankratz et al., 2012
T: OR = 1.29 Do et al., 2011
T: OR = 1.27 Spencer et al., 2011
T: OR = 1.38 Hamza et al., 2010
T: OR = 1.38 Hill-Burns et al., 2014
T: OR = 1.37 Saad et al., 2011
rs11931074 g.90639515G>T (intron variant) T = 0.3806 OR = 1.37 Satake et al., 2009
rs2736990 g.90678541G>A c.307-28113C>T (intron variant) A = 0.3934 G: OR = 1.23 Simon-Sanchez et al., 2009
OR = 1.29 Edwards et al., 2010
rs6532194 g.90780902C>T (intergenic variant) T = 0.3694 OR = 1.29 Lill et al., 2012
MAPT Ch 8 rs17649553 g.43994648C>T (intron variant) T = 0.0865 C: OR = 1.3 Nalls et al., 2014
900 kb inversion H1/H2 Lill et al., 2012
rs2942168 g.43714850C>T (intron variant) A = 0.0863 G: OR = 1.27 Nalls et al., 2011
rs393152 g.43719143A>G (intron variant) G = 0.2476 A: OR = 1.3 Simon-Sanchez et al., 2009
rs12185268 g.43923683A>G p.Ile471Val (missense variant) G = 0.0863 A: OR = 1.3 Do et al., 2011
rs8070723 g.44081064A>G c.1828-6612A>G (intron variant) G = 0.1190 OR = 1.3 Spencer et al., 2011
rs17577094 g.44187492A>G c.1290-15425T>C (intron variant) G = 0.0865 OR = 1.56 Vacic et al., 2014
rs11012 g.43513441C>T c.*1783G>A T = 0.0807 T: OR = 1.43 Edwards et al., 2010
rs199498 g.46788237T>C c.81-14328A>G (intron variant) C = 0.2578 T: OR = 1.35 Hill-Burns et al., 2014
rs199533 g.44828931G>A p.Lys702 = (synonimous variant) A = 0.0791 C: OR = 1.35 Hamza et al., 2010

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.