Lack of Implication for CALHM1 P86L Common Variation in Italian Patients with Early and Late Onset Alzheimer's Disease

被引：16

作者：

Nacmias, Benedetta ^{[1
,2
]}

Tedde, Andrea ^{[1
,2
]}

Bagnoli, Silvia ^{[1
,2
]}

Lucenteforte, Ersilia ^{[3
]}

Cellini, Elena ^{[1
,2
]}

Piaceri, Irene ^{[1
,2
]}

Guarnieri, Bianca Maria ^{[4
]}

Bessi, Valentina ^{[1
,2
]}

Bracco, Laura ^{[1
,2
]}

Sorbi, Sandro ^{[1
,2
]}

机构：

[1] Univ Florence, Dept Neurol & Psychiat Sci, I-50134 Florence, Italy

[2] Univ Florence, Ctr Ric Trasferimento & Alta Formaz DENOTHE, I-50134 Florence, Italy

[3] Univ Florence, Dept Preclin & Clin Pharmacol, I-50134 Florence, Italy

[4] Assoc L Petruzzi, Pescara, Italy

来源：

JOURNAL OF ALZHEIMERS DISEASE | 2010年 / 20卷 / 01期

关键词：

Alzheimer's disease; apolipoprotein E; calcium homeostasis modulator 1; genetic variation; NO ASSOCIATION; RISK; POLYMORPHISM; ALLELE;

D O I：

10.3233/JAD-2010-1345

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

A recent study identified a polymorphism (Pro86Leu) in the Calcium homeostasis modulator 1 (CALHM1) gene whose minor Leucine allele showed a higher frequency in Alzheimer's disease (AD) patients compared to controls (29% in AD and 22% in controls). Further studies provided conflicting results in different ethnic groups. In order to assess the involvement of the CALHM1 genetic variant on the risk of developing AD, we analyzed the genotype and allele distributions of the Pro86Leu polymorphism in 758 Italian subjects. Our results did not confirm an association between the CALHM1 variation and AD, thus suggesting a genetic heterogeneity among the various populations.

引用

页码：37 / 41

页数：5

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