Table 1.
Genome-wide association and candidate gene studies on LOAD performed in Caribbean Hispanics and African Americans
| Study | Source Population(s) |
case s (n) |
contr ols (n) |
Age rang e |
Phenotype | Genotyping | Finding (disease-associated SNP, Allele) |
|---|---|---|---|---|---|---|---|
| Caribbean Hispanics | |||||||
| Lee et al. (2007) | WHICAP | 178 | 194 | > 65 years | LOAD (NINCDS-ARDRA criteria) | 29 SORL1 SNPs | rs12285364 (T allele ,↑) associated with LOAD |
| Lee et al. (2011) | WHICAP, EFIGA | 549 | 544 | > 65 years | LOAD (NINCDS-ARDRA criteria) | Illumina 650Y | rs9945493 on 18q23; rs4669573 and rs10197851 on 2p25.1; rs11711889 on 3q25.2; rs1117750 on 7p21.1; and rs7908652 on 10q23.1); CLU (rs881146), PICALM (rs17159904), BIN1(rs7561528) |
| Reitz et al. (2012) | WHICAP, EFIGA | 549 | 544 | > 65 years | LOAD (NINCDS-ARDRA criteria) | Illumina 650Y | 3 SNPs (rs17219084 (G allele, ↑), rs11075996 (T allele, ↑), rs11075997 (T allele, ↑)) and corresponding haplotypes in FTO associated with LOAD |
| Reitz et al. (2012) | WHICAP, EFIGA | 549 | 544 | > 65 years | LOAD (NINCDS-ARDRA criteria) | Illumina 650Y | 4 SNPs (rs16923760 (C allele, ↓), rs1925608 (C allele, ↓), rs7082306 (A allele, ↓), rs1925609 (T allele, ↑)and corresponding haplotypes in LRRTM3 associated with LOAD |
| Ghani et al. (2012) | WHICAP, EFIGA | 549 | 544 | > 65 years | LOAD (NINCDS-ARDRA criteria) | Illumina 650Y | 470 kb duplication on chromosome 15q11.2 with dosage increase of CYFIP1 and NIPA1 associated with LOAD |
| Reitz et al. (2012) | WHICAP, EFIGA | 160 | 294 | > 65 years | plasma Aβ40 and Aβ42 levels | Illumina 650Y | 3 SNPs in IDE (rs2421943 (A allele, ↑), rs12264682 (A allele, ↓), rs11187060 (T allele, ↓)) associated with plasma Aβ40 or Aβ42 levels |
| African Americans | |||||||
| Lee et al. (2007) | WHICAP | 88 | 158 | > 65 years | LOAD (NINCDS-ARDRA criteria) | 29 SORL1 SNPs | rs12285364 (T allele,↓), rs1784933(G allele, ↑) associated with LOAD |
| Logue et al. (2011) | MIRAGE, GenerAAtion s | 513 | 496 | > 65 years | LOAD (NINCDS-ARDRA criteria) | Illumina 610 Quad, Illumina 370 Duo | Various SNPs in APOE, PVRL2, CLU, PICALM, BIN1, EPHA1, MS4A, ABCA7,CD33 associated with LOAD** |
| Reitz et al. (2013) | multiple sites | 1,968 | 3,928 | > 65 years | LOAD (NINCDS-ARDRA criteria) | multiple Illumina chips | APOE, ABCA7, CR1, BIN1, EPHA1, CD33 associated with LOAD** |
| Burgess et al. (2011) | Mayo Clinic, Jacksonville | 119 | 252 | > 60 years | LOAD (NINCDS-ARDRA criteria) | 15 KIBRA SNPs | significantly reduced LOAD risk for rs17070145 T allele in the older subjects |
| Akomolafe et al. (2006) | MIRAGE | 241 | 226 | >65 years | LOAD (NINCDS-ARDRA criteria)* | 11 NOS3 SNPs | Glu298 allele associated with higher LOAD risk |
| Erlich et al. (2006) | MIRAGE | 241 | 226 | >65 years | LOAD (NINCDS-ARDRA criteria)* | 29 SNPs in PON gene cluster | 8 SNPs and several haplotypes associated with increased LOAD including PON1 promoter SNP-161[C/T] |
*
control status based on modified Telephone Interview of Cognitive Status
**
disease-associated alleles differ compared to Whites