| Item type |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2010-08-18 |
| タイトル |
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タイトル |
＜Symposium IV＞Genetic variation in PCDH11X is associated with susceptibility to late onset Alzheimer's disease |
| 言語 |
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言語 |
eng |
| 資源タイプ |
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資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
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資源タイプ |
journal article |
| 著者 |
Carrasquillo, Minerva M.
Zou, Fanggeng
Pankratz, V. Shane
Wilcox, Samantha L.
Ma, Li
Walker, Louise P.
Younkin, Samuel G.
Younkin, Curtis S.
Younkin, Linda H.
Bisceglio, Gina D.
Ertekin-Taner, Nilufer
Crook, Julia E.
Dickson, Dennis W.
Peterson, Rnald C.
Graff-Radford, Neill R.
Younkin, Steven G.
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| 著者所属 |
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値 |
Department of Neuroscience, Mayo Clinic College of Medicine |
| 著者所属 |
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値 |
Department of Neuroscience, Mayo Clinic College of Medicine |
| 著者所属 |
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値 |
Division of Biomedical Statistics and Informatics, Mayo Clinic and Mayo Foundation |
| 著者所属 |
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値 |
Department of Neuroscience, Mayo Clinic College of Medicine |
| 著者所属 |
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値 |
Department of Neuroscience, Mayo Clinic College of Medicine |
| 著者所属 |
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値 |
Department of Neuroscience, Mayo Clinic College of Medicine |
| 著者所属 |
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値 |
Department of Neuroscience, Mayo Clinic College of Medicine |
| 著者所属 |
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値 |
Department of Neuroscience, Mayo Clinic College of Medicine |
| 著者所属 |
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値 |
Department of Neuroscience, Mayo Clinic College of Medicine |
| 著者所属 |
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値 |
Department of Neuroscience, Mayo Clinic College of Medicine |
| 著者所属 |
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値 |
Biostatistics Unit, Mayo Clinic College of Medicine |
| 著者所属 |
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値 |
Department of Neuroscience, Mayo Clinic College of Medicine |
| 著者所属 |
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値 |
Department of Neurology and the Mayo Alzheimer Disease Research Center, Mayo Clinic College of Medicine |
| 著者所属 |
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値 |
Department of Neuroscience, Mayo Clinic College of Medicine |
| 著者所属 |
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値 |
Department of Neuroscience, Mayo Clinic College of Medicine |
| 抄録 |
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内容記述タイプ |
Abstract |
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内容記述 |
By analyzing late onset Alzheimer’s disease （LOAD） in a genome wide association study of 3 American Caucasian series and evaluating the 25 SNPs with most significant allelic association in 4 additional series, we identifi ed a SNP （rs5984894） on Xq21.3 in PCDH11X that is strongly associated with LOAD in American Caucasians （total n=4,855; AD:2,391; control:2,464）. Analysis of rs5984894 by logistic regression using sex as a covariate gave a global p value of 3.9 x 10-12 in the combined series. Odds ratios were 1.75（ 95% CI 1.42-2.16） for female homozygotes （P=2.0x10-7） and 1.26 （95% CI 1.05-1.51） for female heterozygotes （P=0.01） compared to female non-carriers. For male hemizygotes （P=0.07） compared to male non-carriers the odds ratio was 1.18 （95% CI 0.99-1.41）. The eff ect of this variant was dose dependent, as females homozygotes for the minor allele were at signifi cantly greater risk than heterozygous females and hemizygous males. We tested additional variants in PCDH11X for association with LOAD. One of these variants, rs2573905, showed association with LOAD similar to that for rs5984894, albeit with a slightly more significant p-value （5.4x10-13）. This is not surprising since these two variants are in near perfect linkage disequilibrium （r2 = 0.98, D’ = 0.99）, and the minor allele of these two SNPs occur on the same haplotype. However, rs2573905 is in a sequence that has been evolutionarily conserved between human and mice, with 70% sequence identity over 100bp, suggesting a possible functional role for this SNP. Joint analysis of APOE and rs2573905 genotypes showed that 75 women with LOAD （4.9%） were homozygous both for APOE e4 and for rs2573905 whereas only 2 unaff ected women （0.15%）, both age 73, were double homozygotes. These fi nding suggest that the double homozygote may be fully penetrant in women over the age of 73 and that this combination may account for ~5% of the AD that occurs in women. |
| 引用 |
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内容記述タイプ |
Other |
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内容記述 |
弘前医学. 61(Suppl.), 2010, p.S125-S134 |
| 書誌情報 |
弘前医学
巻 61,
号 Supplement,
p. S125-S134,
発行日 2010-07-08
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| ISSN |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
0439-1721 |
| 書誌レコードID |
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収録物識別子タイプ |
NCID |
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収録物識別子 |
AN00211444 |
| 著者版フラグ |
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出版タイプ |
VoR |
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出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| 日本十進分類法 |
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主題Scheme |
NDC |
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主題 |
490 |
| NIIサブジェクト |
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主題Scheme |
Other |
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主題 |
医学 |
| 出版者 |
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出版者 |
弘前大学大学院医学研究科・弘前医学会 |
| 資源タイプ |
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|
値 |
Article |
HirosakiMedJ_61_S125.pdf (432.0 kB)
