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. Author manuscript; available in PMC: 2015 May 4.
Published in final edited form as: Neurobiol Aging. 2014 Mar 11;35(8):1958.e3–1958.e12. doi: 10.1016/j.neurobiolaging.2014.03.005

Table 3.

Genetic association (assuming an additive model of inheritance) between candidate SNPs and measure of cognitive function

Chromosome Position SNP Gene Location DHS analysis Association p-values (covariates: age, sex, affected,
education)		 Reference
Source Alleles
(major/minor)		 MAF Stroop DSST 3MSE RAVLT Semantic
fluency		 Phonemic
fluency
1 7316136 rs7547519 CAMTA1 Intronic GWAS G/A 0.243 0.005 0.49 0.34 0.81 0.06 0.71 (Cirulli et al., 2010)
1 88802012 rs2179965 PKN2 Upstream Exome A/G 0.160 0.77 0.55 0.42 0.60 0.27 0.42 (Seshadri et al., 2007)
1 160321065 rs12239747 NCSTN Exonic Imputed A/G 0.048 0.34 0.67 0.38 0.81 0.87 0.51 (Houlihan et al., 2009)
1 160321180 rs2274185 NCSTN Intronic Imputed C/G 0.058 0.07 0.80 0.47 0.23 0.66 0.61 (Houlihan et al., 2009)
1 160323903 rs7528638 NCSTN Intronic Imputed C/G 0.045 0.66 0.96 0.55 0.43 0.62 0.73 (Houlihan et al., 2009)
1 160327820 rs17370539 NCSTN Intronic Imputed G/C 0.058 0.29 0.64 0.36 0.76 0.95 0.74 (Houlihan et al., 2009)
3 139682495 rs6439886 CLSTN2 Intronic Imputed A/G 0.137 0.32 0.76 0.85 0.56 0.10 0.50 (Need et al., 2009; Papassotiropoulos et al., 2006; Sedille-Mostafaie et al., 2012)
4 67733857 rs1155865 Intergenic — GWAS A/G 0.150 0.60 0.40 0.43 0.76 0.05 0.48 (Seshadri et al., 2007)
4 155491759 rs4220 FGB Exonic Exome G/A 0.153 0.08 0.19 0.71 0.77 0.33 0.49 (Marioni et al., 2011)
5 167845791 rs17070145 KIBRA (WWC1) Intronic GWAS C/T 0.310 0.70 0.97 0.51 0.69 0.70 0.61 (Cirulli et al., 2010; Need et al., 2009; Papassotiropoulos et al., 2006; Sedille-Mostafaie et al., 2012)
7 136592969 rs2350780 CHRM2 Intronic Imputed A/G 0.332 0.66 0.69 0.58 0.07 0.89 0.93 (Cirulli et al., 2010)
8 31474141 rs35753505 NRG1 Upstream Imputed T/C 0.345 0.93 0.55 0.94 0.96 0.58 0.98 (Need et al., 2009)
8 66644713 rs10808746 PDE7A Intronic GWAS G/A 0.459 0.53 0.22 0.14 0.11 0.43 0.71 (De Jager et al., 2012)
10 16689683 rs7087965 RSU1 Intronic Imputed G/A 0.301 0.62 0.60 0.90 0.16 0.44 0.16 (Luciano et al., 2011)
10 117512588 rs10490919 ATRNL1 Intronic GWAS T/G 0.500 0.87 0.14 0.92 0.61 0.82 0.26 (Luciano et al., 2011)
11 1782594 rs17571 CTSD Exonic Exome G/A 0.097 0.14 0.34 0.92 0.76 0.43 0.76 (Cirulli et al., 2010; Need et al., 2009)
11 6034259 rs10769565 OR56A4/ Intergenic Imputed T/C 0.326 0.78 0.18 0.89 0.03 0.06 0.55 (De Jager et al., 2012)
11 27679916 rs6265 BDNF/BDNF-AS Exonic Exome G/A 0.201 0.54 1.00 0.17 0.03 0.39 0.17 (Cirulli et al., 2010; Houlihan et al., 2009; Need et al., 2009)
12 30451040 rs10506065 Intergenic — Imputed C/A 0.358 0.63 0.25 0.18 0.75 0.57 0.64 (Seshadri et al., 2007)
13 33628138 rs9536314 KL Exonic Exome A/C 0.169 0.27 0.28 0.75 0.65 0.81 0.50 (Houlihan et al., 2009)
13 47409034 rs6314 HTR2A Exonic Imputed G/A 0.081 0.07 0.25 0.49 0.48 0.58 0.97 (Cirulli et al., 2010; Need et al., 2009; Sigmund et al., 2008)
13 106185749 rs3918342 DAOA Downstream Imputed C/T 0.494 0.45 0.24 0.65 0.99 0.87 0.45 (Need et al., 2009)
13 106198235 rs1421292 DAOA Downstream Imputed T/A 0.472 0.41 0.22 0.61 0.62 0.59 0.41 (Need et al., 2009)
14 105259734 rs1130214 AKT1 3′ UTR GWAS C/A 0.302 0.03 0.29 0.90 0.20 0.71 0.36 (Need et al., 2009)
19 45395619 rs2075650 TOMM40 Intronic Exome A/G 0.136 0.10 0.64 0.92 0.05 0.47 0.06 (Davies et al., 2014)
19 45411941 rs429358 APOE Exonic Genotyped T/C 0.047 0.26 0.56 0.22 0.01 0.40 0.12 (Davies et al., 2014)
19 45412079 rs7412 APOE Exonic Exome G/A 0.080 0.86 0.13 0.15 0.57 0.52 0.07 (Davies et al., 2014)
— — — APOE_hapa — — — — 0.21 0.79 0.88 0.06 0.75 0.01 (Davies et al., 2014)
19 45422946 rs4420638 APOC1 Downstream Exome A/G 0.190 0.17 0.45 0.89 0.14 0.10 0.002 (De Jager et al., 2012)
21 30141021 rs2832077 Intergenic — Exome G/A 0.184 0.16 0.13 0.51 0.43 0.08 0.14 (Luciano et al., 2011)
21 32216253 rs7283316 KRTAP7-1 Upstream Exome G/A 0.413 0.29 0.13 0.65 0.72 0.33 0.96 (Luciano et al., 2011)
22 19951271 rs4680 COMT Exonic Exome G/A 0.473 0.91 0.62 0.06 0.36 0.94 0.35 (Cirulli et al., 2010; Houlihan et al., 2009; Need et al., 2009)

Key: DSH, diabetes heart study; DSST, digit symbol substitution task; GWAS, genome-wide association study; MAF, minor allele frequencies; 3MSE, modified mini-mental state examination; RAVLT, rey auditory-verbal learning task; SNPs, single-nucleotide polymorphisms.

a

Association reported for the E4 haplotype.