Table 1 GWAS Assays and meta-analysis identify genetic risk genes for AD
Authors; published year, journal | Country conducted | Study objectives | Population | Method | Sample size | Reported novel loci | Reported SNP | Reported genes |
|---|---|---|---|---|---|---|---|---|
Esparza-Gordillo et al. Nat Genet. 2009 May; 41(5):596–601 | Germany | Identify genetic variants contributing to AD | German/European | Affymetrix Human mapping 500 K and 5.0 arrays | Discovery cohort: 939 AD, 957 Controls, 270 nuclear families Replication cohort: 1363 AD and 2739 control German; 1274 AD and 1218 European ancestry | 11q13.5ab 1q21.3ab | rs7927894(A) rs87776, rs61813875 | C11orf30 LRRC32 FLG |
Sun et al. Nat Genet. 2011 Jun; 43(7):690–4 | China | Identify genetic variants for AD | Chinese | Illumina BeadChips | Discovery cohort: 1012 cases and 1362 controls Replication cohort: 3624 cases and 12,197 controls of Chinese Han; 1806 cases and 3256 controls of German | 5q22.1 20q13.33ab | rs7701890 rs6010620 | TMEM232 SLC25A46 TNFRSF6B ZGPAT |
Paternoster et al. Nat Genet. 2011 Dec; 44(2):187–92 | Joint effort of multiple countries in Europe, North America and Australia (EAGLE) | A collaborate effect to identify additional risk genes for AD | European descents | Affymetrix 500K, Affymetrix 5.0, Affymetrix 6.0, Illumina 317 K/610 K, Illumina 610 quad, Meta analyses | Discovery cohort: 5606 cases and 20,565 controls from 16 populations Replication cohort: 5419 cases and 19,833 controls from 14 studies | 11q13.1a 19p13.2a 5q31a | rs479844 rs2164983 rs2918307 rs2897442 | OVOL1 ACTL9/ADAMTS10 KIF3A IL-13-RAD50 |
Hirota et al. Nat Genet. 2012 Nov; 44(11):1222–6 | Japan | Identify genetic variants for AD | Japanese | Illumina Human OmniExpress Bead Chips | Discovery cohort: 1472 cases and 7971 controls Replication cohort: 1856 cases and 7021 controls | 2q12.1ab 6p21.32ab 11p15.4a 3p21.33 3q13.2ab 7p22.2b 10q21.2ab 20q13.2b | rs13015714 rs176095 rs878860 rs6780220 rs12634229 rs4722404 rs10995251 rs16999165 | IL1RL1-IL18R1-IL-18RAP GPSM3(MHC region) OR10A3/NLRP10 GLB1 CCDC80 CARD11 ZNF365 CYP24A1-PFDN4 |
Ellinghaus et al. Nat Genet. 2013 Jul; 45(7):808–12 | Germany | To better define risk variants and identify additional susceptibility loci for AD | German Irishman Chinese Japanese | ImmunoChip array Meta-analysis | Discovery cohort: 2425 cases and 5449 controls of German Replication cohort: 7196 cases and 15,480 controls from Ireland, Japan and China | 2q12.1 4q27ab 11p13ab 16p13.13ab 17q21.32b | rs759382 rs17389644 rs12295535 rs2041733 rs16948048 | SLC9A4 IL2/IL21 PRR5L CLEC16A-DEX ZNF652 |
Esparza-Gordillo et al. J Allergy Clin Immunol. 2013; 132(2):371–7 | Germany | To identify novel genetic risk factors for AD | European | Affymetrix 5.0 or Illumina HumanHap 300 | Discovery cohort: 2895 cases and 2448 subjects 1st replication cohort: 1429 cases and 1737 controls 2nd replication cohort: 2806 cases and 5068 controls | 1q21.3a | rs2228145 | IL6R |
Schaarschmidt et al. J Allergy Clin Immunol. 2015; 136(3):802–6 | Germany | To identify novel genetic risk factors for AD | German | Affymetrix Genome-wide human SNP Array 6.0(1000 k). | Discovery cohort: 870 cases and 5293 controls Replication cohort: 1383 cases and 1728 controls | 2q24.3 9p21.3 | rs6720763 rs10738626 | XIRP2(CYMA3) DMRTA1 |
Paternoster et al. Nat Genet. 2015 Dec; 47(12):1449–56 | Joint effort of multiple countries cross continents | A collaborate effect to identify additional risk genes for AD cross different ethnicity | European Asian African Latino | Meta-analysis | Discovery cohort:21,399 cases and 95,464 controls Replication cohort: 32,059 cases and 228,628 controls | 14q13.2 11q24.3 1q21.2 8q21.3 10p15.1 5p13.2 2p25.1 2p16.1 17q21.2 3p21.1 2p13.3 | rs2038255 rs7127307 rs7512552 rs6473227 rs6602364 rs10214237 rs10199605 rs4643526 rs12951971 rs7625909 rs112111458 | PPP2R3C -/EST1 C1orf51/MRPS21 MIR5708/ZBTB10 IL15RA/IL2RA IL7R/CASPL LINC00299 PUS10 STAT3 SFMBT1/RFT1 CD207/VAX2 |