|
rs6964587
|
|
Breast Carcinoma
|
|
0.720 |
GeneticVariation
|
BEFREE |
For white European women, the minor T allele of 7q21-rs6964587 was associated with breast cancer risk under a recessive model (OR 1.07, 95% CI 1.00 to 1.13, p = 0.04).
|
21931171 |
2011 |
|
rs6964587
|
|
Breast Carcinoma
|
|
0.720 |
GeneticVariation
|
BEFREE |
The collaborative analysis confirmed the association of M463I with increased breast cancer risk.
|
18334708 |
2008 |
|
rs144662445
|
|
Alzheimer's Disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
We studied the effect of two rare mutations (rs144662445 and rs149979685) in the A-kinase anchoring protein 9 (AKAP9) gene, previously associated with Alzheimer disease (AD) in African Americans (AA), on post-translational modifications of AD-related pathogenic molecules, amyloid precursor protein (APP) and microtubule-associated protein Tau using lymphoblastoid cell lines (LCLs) from 11 AA subjects with at least one AKAP9 mutation and 17 AA subjects lacking these mutations.
|
29516269 |
2018 |
|
rs144662445
|
|
Alzheimer's Disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
Nominally significant (P < .05) association to AD was observed with two African-descent specific AKAP9 SNPs in tight linkage disequilibrium: rs144662445 (P = .014) and rs149979685 (P = .037).
|
25172201 |
2014 |
|
rs149979685
|
|
Alzheimer's Disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
We studied the effect of two rare mutations (rs144662445 and rs149979685) in the A-kinase anchoring protein 9 (AKAP9) gene, previously associated with Alzheimer disease (AD) in African Americans (AA), on post-translational modifications of AD-related pathogenic molecules, amyloid precursor protein (APP) and microtubule-associated protein Tau using lymphoblastoid cell lines (LCLs) from 11 AA subjects with at least one AKAP9 mutation and 17 AA subjects lacking these mutations.
|
29516269 |
2018 |
|
rs149979685
|
|
Alzheimer's Disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
Nominally significant (P < .05) association to AD was observed with two African-descent specific AKAP9 SNPs in tight linkage disequilibrium: rs144662445 (P = .014) and rs149979685 (P = .037).
|
25172201 |
2014 |
|
rs6964587
|
|
Malignant neoplasm of breast
|
|
0.020 |
GeneticVariation
|
BEFREE |
For white European women, the minor T allele of 7q21-rs6964587 was associated with breast cancer risk under a recessive model (OR 1.07, 95% CI 1.00 to 1.13, p = 0.04).
|
21931171 |
2011 |
|
rs6964587
|
|
Malignant neoplasm of breast
|
|
0.020 |
GeneticVariation
|
BEFREE |
The collaborative analysis confirmed the association of M463I with increased breast cancer risk.
|
18334708 |
2008 |
|
rs11772585
|
|
cardiac event
|
|
0.010 |
GeneticVariation
|
BEFREE |
The rs11772585 T allele, found uniquely in the TACT haplotype, more than doubled (218%) the risk of cardiac events (P=0.002) in the presence of A341V; additionally, it increased disease severity (P=0.025).
|
25087618 |
2014 |
|
rs2282972
|
|
cardiac event
|
|
0.010 |
GeneticVariation
|
BEFREE |
The rs7808587 GG genotype was associated with a 74% increase in cardiac event risk (P=0.046), whereas the rs2282972 T allele, predominantly represented by the CATT haplotype, decreased risk by 53% (P=0.001).
|
25087618 |
2014 |
|
rs371245265
|
|
Alzheimer Disease, Late Onset
|
|
0.010 |
GeneticVariation
|
BEFREE |
We also found association of AD with a rare 9 bp deletion (rs371245265) located very close to the <i>AKAP9</i> transcription start site (rs371245265, <i>OR</i> = 10.75, <i>p</i> = 0.0053).
|
30210277 |
2018 |
|
rs6960867
|
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
To evaluate the impact of AKAP variants on breast cancer risk, we genotyped six nonsynonymous single-nucleotide polymorphisms that were predicted to be deleterious and found two (M463I, 1389G>T and N2792S, 8375A>G) to be associated with an allele dose-dependent increase in risk of familial breast cancer in a German population.
|
18334708 |
2008 |
|
rs6960867
|
|
Breast Cancer, Familial
|
|
0.010 |
GeneticVariation
|
BEFREE |
To evaluate the impact of AKAP variants on breast cancer risk, we genotyped six nonsynonymous single-nucleotide polymorphisms that were predicted to be deleterious and found two (M463I, 1389G>T and N2792S, 8375A>G) to be associated with an allele dose-dependent increase in risk of familial breast cancer in a German population.
|
18334708 |
2008 |
|
rs6960867
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
To evaluate the impact of AKAP variants on breast cancer risk, we genotyped six nonsynonymous single-nucleotide polymorphisms that were predicted to be deleterious and found two (M463I, 1389G>T and N2792S, 8375A>G) to be associated with an allele dose-dependent increase in risk of familial breast cancer in a German population.
|
18334708 |
2008 |
|
rs6964587
|
|
Breast Cancer, Familial
|
|
0.010 |
GeneticVariation
|
BEFREE |
To evaluate the impact of AKAP variants on breast cancer risk, we genotyped six nonsynonymous single-nucleotide polymorphisms that were predicted to be deleterious and found two (M463I, 1389G>T and N2792S, 8375A>G) to be associated with an allele dose-dependent increase in risk of familial breast cancer in a German population.
|
18334708 |
2008 |
|
rs6964587
|
|
Colorectal Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
One SNP AKAP9 M463I remained significantly associated with CRC risk after stringent adjustment for multiple testing.
|
17000706 |
2006 |
|
rs765388668
|
|
Colorectal Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Further SNPs associated with CRC risk included several previously reported to be associated with cancer risk including ATM F858L [OR=1.48; 95% confidence interval (CI): 1.06-2.07] and P1054R (OR=1.42; 95% CI: 1.14-1.77) and MTHFR A222V (OR=0.82; 95% CI: 0.69-0.97).
|
17000706 |
2006 |
|
rs765388668
|
|
Primary malignant neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
Further SNPs associated with CRC risk included several previously reported to be associated with cancer risk including ATM F858L [OR=1.48; 95% confidence interval (CI): 1.06-2.07] and P1054R (OR=1.42; 95% CI: 1.14-1.77) and MTHFR A222V (OR=0.82; 95% CI: 0.69-0.97).
|
17000706 |
2006 |
|
rs765388668
|
|
Malignant Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
Further SNPs associated with CRC risk included several previously reported to be associated with cancer risk including ATM F858L [OR=1.48; 95% confidence interval (CI): 1.06-2.07] and P1054R (OR=1.42; 95% CI: 1.14-1.77) and MTHFR A222V (OR=0.82; 95% CI: 0.69-0.97).
|
17000706 |
2006 |
|
rs771608420
|
|
Alzheimer Disease, Late Onset
|
|
0.010 |
GeneticVariation
|
BEFREE |
A variant in <i>AKAP9,</i> p.R434W, segregated significantly with LOAD in two large families (OR = 5.77, 95% CI: 1.07-30.9, <i>P</i> = 0.041).
|
29688227 |
2018 |
|
rs7808587
|
|
cardiac event
|
|
0.010 |
GeneticVariation
|
BEFREE |
The rs7808587 GG genotype was associated with a 74% increase in cardiac event risk (P=0.046), whereas the rs2282972 T allele, predominantly represented by the CATT haplotype, decreased risk by 53% (P=0.001).
|
25087618 |
2014 |