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. Author manuscript; available in PMC: 2010 Feb 10.
Published in final edited form as: Ann N Y Acad Sci. 2009 Oct;1180:75. doi: 10.1111/j.1749-6632.2009.04945.x

TABLE 2.

Summary of Studies Relating SORL1 with LOAD

Haplotype 1
 Haplotype 2
Author (Year) Age rs668387 SNP 8 1,2 rs689021 SNP 9 rs641120 SNP 10 rs3824968 SNP 23 rs2282649 SNP 24 rs1010159 SNP 25 Other Significant SNPs
Significant Association
 Rogaeva et al. (2007) Mean AAO: 70 ± 9 – 77 ± 8
 Caucasians (family data set) T T C
 Caribbean Hispanics C G C
 Caucasians (case–control data sets) C G C T T C
 Israeli Arabs C G C
 African-Americans
 Lee et al. (2007) - Northern Manhattan Mean AAO: 79.1 ± 5.1 – 84.4 ± 8.0
 Caucasians C A T T T C rs3824966 (SNP 20)
 Hispanics rs12285364 (SNP 12)
 African-Americans C G T C C rs12285364, rs1784933 (SNP 26)
 Meng et al. (2007)2 Not released
 Caucasians + + +
 Lee et al. (2007) - Autopsy Mean AAO: cases: 80.5, controls: 79.9
 Caucasians C G C A T C
 Tan et al. (2007) Mean AAO: 71.2 ± 8.9
 Han Chinese A T
 Seshadri et al. (2007)3 Mean age: 62 +9
 Caucasians + rs1131497 (SNP29)
 Bettens et al. (2008) Mean AAO: 79.0 ± 5.2
 Caucasians C G C rs560573 (SNP 6), rs1614735 (SNP 27)
 Lee et al. (2008), re-analyzing data by Shibata et al. (2008)
 Japanese C T
Weak Association
 Webster et al. (2008)2 Age ≥ 65 years
 Caucasians + +
 Grupe et al. (2007)2 Mean age: 77.4 ± 7.5 (WU), 76.4 ± 6.1 (UK1), 76.5 ± 5.6 (UK2)
 Caucasians T rs2070045 (SNP 19)
No Association
 Li H (2008)4 Mean AAO ≥60
Caucasians
1

SNP numbers from Rogaeva et al. (2007) are presented. Alleles are presented only when significant alleles in bold were statistically significant in either allelic, genotypic, or haplotypic analysis.

2

Used the nearest SNPs (indicated with a “+” sign) when different SNPs were used.

3

Endophenotype was studied.

4

No specific marker information for SORL1 was available from the paper. AAO = age of onset.