1. CANDIDATE GENE STUDIES AND GWAS SUGGEST SUBSTANTIAL GENETIC INFLUENCE ON DEFICITS IN OLFACTORY IDENTIFICATION AMONG PERSONS AT RISK OF AD 
Marie-Elyse Lafaille-Magnan, Cynthia Picard, Justin Miron, Judes Poirier, John C.S. Breitner 
Alzheimer's & Dementia: The Journal of the Alzheimer's Association 
Volume 13, Issue 7, Pages P1289-P1290 (July 2017)
DOI: /j.jalz
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2. Figure 1
UPSIT and the MAPT rs polymorphisms. The C allele is the risk allele is associated with increased MAPT expression level in the frontal cortex [2](Dong, 2015). Presence of the C allele is associated with lower OI in older adults at risk of AD. Participants included were 81 CC, 44 CT, 10 TT. A Kruskal-Wallis revealed a trend for group differences in OI (X2(2)=5.29, p=0.071, df=2, n=135). Linear regression suggested that a minor (“protective”) allele dose response (F(1,133)=3.7683, p=0.0543, R2=0.0508). The dosage ranges from 0 to 2, where 0 doesn't have a copy of the minor allele (T allele) and 2 as 2 copies of the minor allele.
UPSIT = University of Pennsylvania Smell Identification Test.
MAPT = microtubule-associated protein tau.
Alzheimer's & Dementia: The Journal of the Alzheimer's Association  , P1289-P1290DOI: ( /j.jalz )
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3. Figure 2 UPSIT and the CDK5RAP2 rs10984186 polymorphisms.
This genotyping was pyrosequenced separately from the gene chip, thus we have data on 141 individuals. CDK5 regulatory subunit-associated protein 2 (CDK5RAP2) binds to the CDK5 complex, which is involved in Tau phosphorylation. Participants included were 77 GG, 53 AG, 12 AA. A Kruskal-Wallis revealed there were significant group differences in OI (X2(2)= 6.13, p=0.0466, df=2, n=141). Linear regression suggested that the minor allele dose response predicts lower OI (F(2,139)=3.61, p=0.0297, R2=0.0494). The dosage ranges from 0 to 2, where 0 doesn't have a copy of the minor allele (A allele) and 2 as 2 copies of the minor allele.
UPSIT = University of Pennsylvania Smell Identification Test.
Alzheimer's & Dementia: The Journal of the Alzheimer's Association  , P1289-P1290DOI: ( /j.jalz )
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4. Figure 3
Manhattan plots of the genome-wide association study of olfactory identification.
The blue line indicates the genome-wide suggestive threshold (1*10ˆ-5), The red line indicates the genome-wide significance threshold (5*10ˆ-8). There were 26 SNPs that reached the genome-wide significance threshold. Note that 4 SNPs on chromosome 3 and 14 had a P<5*10ˆ-12.
Alzheimer's & Dementia: The Journal of the Alzheimer's Association  , P1289-P1290DOI: ( /j.jalz )
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5. Figure 4
Manhattan plots of the genome-wide association study of olfactory identification after adjusting for age, gender, and APOE 4.
The blue line indicates the genome-wide suggestive threshold (1*10ˆ-5), The red line indicates the genome-wide significance threshold (5*10ˆ-8). We found that 22 SNPs survived adjustment for age, gender, and APOE 4 carrier status and identified 9 new SPNs for a total of 31 SPNs. Note that 4 SNPs on chromosome 3 and 14 conserved a P<5*10ˆ-12 after adjusting for covariates.
Alzheimer's & Dementia: The Journal of the Alzheimer's Association  , P1289-P1290DOI: ( /j.jalz )
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