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rs732774
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Hepatolenticular Degeneration
|
|
0.030 |
GeneticVariation
|
BEFREE |
We show that SNPs in the Wilson disease gene, ATP7B, that produce amino-acid substitutions K832R and R952K, modulate ATP7B properties in vitro and influence serum copper (Cu) status in vivo.
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31070637 |
2019 |
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rs732774
|
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Alzheimer's Disease
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|
0.030 |
GeneticVariation
|
BEFREE |
The genetic association analysis showed significant results after multiple testing correction for all investigated variants (rs1801243, odds ratio [OR]=1.52, 95% confidence interval [CI]=1.10-2.09, p=0.010; rs2147363, OR=1.58, 95% CI=1.11-2.25, p=0.010; rs1061472, OR=1.73, 95% CI=1.23-2.43, p=0.002; rs732774, OR=2.31, 95% CI=1.41-3.77, p<0.001), indicating that SNPs in transmembrane domains may have a stronger association with AD risk than variants in copper-binding domains.
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22950421 |
2013 |
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rs732774
|
|
Hepatolenticular Degeneration
|
|
0.030 |
GeneticVariation
|
BEFREE |
Moreover, very recent data addressing molecular processes underlying copper dysfunction in AD have indicated that genetic variations of K832R and R952K Single Nucleotide Polymorphisms (SNPs) of the Wilson's disease gene ATP7B are associated also with sporadic AD.
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22565015 |
2012 |
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rs732774
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Alzheimer's Disease
|
|
0.030 |
GeneticVariation
|
BEFREE |
The linkage disequilibrium (LD) analysis revealed an association between K832R and R952K substitutions in both AD patients (D' = 0.79) and controls (D' = 0.81).
|
22356903 |
2012 |
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rs732774
|
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Alzheimer's Disease
|
|
0.030 |
GeneticVariation
|
BEFREE |
Specifically, ATP7B encodes for the protein ATPase 7B which controls free copper status in the body, and both R allele in K832R and K allele in R952K</span> ATP7B SNPs are associated with an increased risk of having AD.
|
22565015 |
2012 |
|
rs732774
|
|
Hepatolenticular Degeneration
|
|
0.030 |
GeneticVariation
|
BEFREE |
Association of K832R and R952K SNPs of Wilson's disease gene with Alzheimer's disease.
|
22356903 |
2012 |
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rs732774
|
|
Carcinoma, Ovarian Epithelial
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|
0.010 |
GeneticVariation
|
BEFREE |
Cumulative risk analysis revealed 3 unfavorable variants that increased significantly the risk of developing ovarian cancer (p.Ile1145 = ABCB1+ p.Asp1853Asn ATM+ p.Ser406Ala ATP7B- OR 7,47; p = 0,002) and significantly modified the progression free survival (PFS) of the patients, and also two favorable genotypes which protected against ovarian cancer (p.Arg952Lys ATP7B+ p.Arg72Pro TP53- OR 0,50; p = 0,008).
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25591549 |
2015 |
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rs732774
|
|
ovarian neoplasm
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|
0.010 |
GeneticVariation
|
BEFREE |
Cumulative risk analysis revealed 3 unfavorable variants that increased significantly the risk of developing ovarian cancer (p.Ile1145 = ABCB1+ p.Asp1853Asn ATM+ p.Ser406Ala ATP7B- OR 7,47; p = 0,002) and significantly modified the progression free survival (PFS) of the patients, and also two favorable genotypes which protected against ovarian cancer (p.Arg952Lys ATP7B+ p.Arg72Pro TP53- OR 0,50; p = 0,008).
|
25591549 |
2015 |
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rs732774
|
|
Malignant neoplasm of ovary
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|
0.010 |
GeneticVariation
|
BEFREE |
Cumulative risk analysis revealed 3 unfavorable variants that increased significantly the risk of developing ovarian cancer (p.Ile1145 = ABCB1+ p.Asp1853Asn ATM+ p.Ser406Ala ATP7B- OR 7,47; p = 0,002) and significantly modified the progression free survival (PFS) of the patients, and also two favorable genotypes which protected against ovarian cancer (p.Arg952Lys ATP7B+ p.Arg72Pro TP53- OR 0,50; p = 0,008).
|
25591549 |
2015 |