Candidate gene analysis of semaphorins in patients with Alzheimer's disease

Chiara Villa; Eliana Venturelli; Chiara Fenoglio; Milena De Riz; Diego Scalabrini; Francesca Cortini; Maria Serpente; Claudia Cantoni; Nereo Bresolin; Elio Scarpini; Daniela Galimberti

doi:10.1007/s10072-009-0200-1

Candidate gene analysis of semaphorins in patients with Alzheimer's disease

Chiara Villa, Eliana Venturelli, Chiara Fenoglio, Milena De Riz, Diego Scalabrini, Francesca Cortini, Maria Serpente, Claudia Cantoni, Nereo Bresolin, Elio Scarpini, Daniela Galimberti

Section of Multiple Sclerosis & Neuroimmunology

Research output: Contribution to journal › Article › peer-review

11 Scopus citations

Abstract

Semaphorins of the Sema IV family are expressed in neurons and decreased in brains from patients with Alzheimer's disease (AD). Accumulation of an internalized form of Sema3A is associated with degeneration of neurons, making these molecules candidates for the development of AD. Single nucleotide polymorphisms (SNPs) rs36026860 and rs28469467 in Sema3A as well as rs13284404 and rs11526468 in Sema4D were analyzed in a population of 240 patients with AD compared with 222 age-matched controls. None of SNPs in Sema3A were present, either in patients or controls. The distribution of the Sema4D rs11526468 and rs13284404 SNPs was not significantly different between patients and controls, even stratifying for gender or age at onset. In silico analysis predicted that rs11526468 and rs28469467 are probably damaging. This high degree of conservation of Sema3A suggests a very important role for this protein. However, neither Sema3A nor Sema4D likely influence the susceptibility to AD.

Original language	English
Pages (from-to)	169-173
Number of pages	5
Journal	Neurological Sciences
Volume	31
Issue number	2
DOIs	https://doi.org/10.1007/s10072-009-0200-1
State	Published - Apr 2010

Keywords

Polymorphism/Alzheimer's disease
Risk factor
Semaphorins

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title = "Candidate gene analysis of semaphorins in patients with Alzheimer's disease",

abstract = "Semaphorins of the Sema IV family are expressed in neurons and decreased in brains from patients with Alzheimer's disease (AD). Accumulation of an internalized form of Sema3A is associated with degeneration of neurons, making these molecules candidates for the development of AD. Single nucleotide polymorphisms (SNPs) rs36026860 and rs28469467 in Sema3A as well as rs13284404 and rs11526468 in Sema4D were analyzed in a population of 240 patients with AD compared with 222 age-matched controls. None of SNPs in Sema3A were present, either in patients or controls. The distribution of the Sema4D rs11526468 and rs13284404 SNPs was not significantly different between patients and controls, even stratifying for gender or age at onset. In silico analysis predicted that rs11526468 and rs28469467 are probably damaging. This high degree of conservation of Sema3A suggests a very important role for this protein. However, neither Sema3A nor Sema4D likely influence the susceptibility to AD.",

keywords = "Polymorphism/Alzheimer's disease, Risk factor, Semaphorins",

author = "Chiara Villa and Eliana Venturelli and Chiara Fenoglio and {De Riz}, Milena and Diego Scalabrini and Francesca Cortini and Maria Serpente and Claudia Cantoni and Nereo Bresolin and Elio Scarpini and Daniela Galimberti",

year = "2010",

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doi = "10.1007/s10072-009-0200-1",

language = "English",

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AU - Villa, Chiara

AU - Venturelli, Eliana

AU - Fenoglio, Chiara

AU - De Riz, Milena

AU - Scalabrini, Diego

AU - Cortini, Francesca

AU - Serpente, Maria

AU - Cantoni, Claudia

AU - Bresolin, Nereo

AU - Scarpini, Elio

AU - Galimberti, Daniela

PY - 2010/4

Y1 - 2010/4

N2 - Semaphorins of the Sema IV family are expressed in neurons and decreased in brains from patients with Alzheimer's disease (AD). Accumulation of an internalized form of Sema3A is associated with degeneration of neurons, making these molecules candidates for the development of AD. Single nucleotide polymorphisms (SNPs) rs36026860 and rs28469467 in Sema3A as well as rs13284404 and rs11526468 in Sema4D were analyzed in a population of 240 patients with AD compared with 222 age-matched controls. None of SNPs in Sema3A were present, either in patients or controls. The distribution of the Sema4D rs11526468 and rs13284404 SNPs was not significantly different between patients and controls, even stratifying for gender or age at onset. In silico analysis predicted that rs11526468 and rs28469467 are probably damaging. This high degree of conservation of Sema3A suggests a very important role for this protein. However, neither Sema3A nor Sema4D likely influence the susceptibility to AD.

AB - Semaphorins of the Sema IV family are expressed in neurons and decreased in brains from patients with Alzheimer's disease (AD). Accumulation of an internalized form of Sema3A is associated with degeneration of neurons, making these molecules candidates for the development of AD. Single nucleotide polymorphisms (SNPs) rs36026860 and rs28469467 in Sema3A as well as rs13284404 and rs11526468 in Sema4D were analyzed in a population of 240 patients with AD compared with 222 age-matched controls. None of SNPs in Sema3A were present, either in patients or controls. The distribution of the Sema4D rs11526468 and rs13284404 SNPs was not significantly different between patients and controls, even stratifying for gender or age at onset. In silico analysis predicted that rs11526468 and rs28469467 are probably damaging. This high degree of conservation of Sema3A suggests a very important role for this protein. However, neither Sema3A nor Sema4D likely influence the susceptibility to AD.

KW - Polymorphism/Alzheimer's disease

KW - Risk factor

KW - Semaphorins

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DO - 10.1007/s10072-009-0200-1

M3 - Article

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AN - SCOPUS:77953544241

SN - 1590-1874

VL - 31

SP - 169

EP - 173

JO - Neurological Sciences

JF - Neurological Sciences

IS - 2

ER -

Candidate gene analysis of semaphorins in patients with Alzheimer's disease

Abstract

Keywords

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