UCHL-1 gene in multiple system atrophy: a haplotype tagging approach.
Identifieur interne : 001324 ( Ncbi/Checkpoint ); précédent : 001323; suivant : 001325UCHL-1 gene in multiple system atrophy: a haplotype tagging approach.
Auteurs : Daniel G. Healy ; Patrick M. Abou-Sleiman ; Niall Quinn ; Kourosh R. Ahmadi ; Tetsutaro Ozawa ; Christoph Kamm ; Ullrich Wullner ; Wolfgang H. Oertel ; Katrin Burk ; Erik Dupont ; Maria T. Pellecchia ; Eduardo Tolosa ; Thomas Gasser ; Janice L. Holton ; Tamas Revesz ; David B. Goldstein ; Andrew J. Lees ; Nicholas W. WoodSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2005.
English descriptors
- KwdEn :
- Adult, Aged, Aged, 80 and over, Expressed Sequence Tags (metabolism), Female, Gene Library, Genotype, Haplotypes (genetics), Humans, Linkage Disequilibrium, Male, Middle Aged, Multiple System Atrophy (genetics), Multiple System Atrophy (metabolism), Polymorphism, Single Nucleotide (genetics), Ubiquitin Thiolesterase (genetics).
- MESH :
- chemical , genetics : Ubiquitin Thiolesterase.
- genetics : Haplotypes, Multiple System Atrophy, Polymorphism, Single Nucleotide.
- metabolism : Expressed Sequence Tags, Multiple System Atrophy.
- Adult, Aged, Aged, 80 and over, Female, Gene Library, Genotype, Humans, Linkage Disequilibrium, Male, Middle Aged.
Abstract
To date, the etiology of multiple system atrophy (MSA) has proved impenetrable. We investigated the role of genetic variation in the UCHL-1 gene in MSA and looked for the presence of disease susceptibility alleles. We determined the linkage disequilibrium structure of the gene and employed a haplotype tagging strategy with power to represent 95% of the haplotype diversity. This approach was performed using a set of tagging single nucleotide polymorphisms (SNPs) that can infer the allelic state of all the common SNPs in UCHL-1 with a high coefficient of determination. This strategy enabled us to scan across the gene and maintain the power to detect signal(s) from any potential functional variant(s). In 257 Gilman-probable or -definite MSA subjects and 1,536 controls, we did not detect a case-control frequency difference for either the tagged haplotypes or for individual tagging SNPs. This search included the S18Y variant of UCHL-1, which has been reported to be protective in Parkinson's disease.
DOI: 10.1002/mds.20575
PubMed: 16007636
Affiliations:
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<author><name sortKey="Healy, Daniel G" sort="Healy, Daniel G" uniqKey="Healy D" first="Daniel G" last="Healy">Daniel G. Healy</name>
<affiliation><nlm:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London United Kingdom.</nlm:affiliation>
<wicri:noCountry code="subField">London United Kingdom</wicri:noCountry>
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<author><name sortKey="Abou Sleiman, Patrick M" sort="Abou Sleiman, Patrick M" uniqKey="Abou Sleiman P" first="Patrick M" last="Abou-Sleiman">Patrick M. Abou-Sleiman</name>
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<author><name sortKey="Quinn, Niall" sort="Quinn, Niall" uniqKey="Quinn N" first="Niall" last="Quinn">Niall Quinn</name>
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<author><name sortKey="Ahmadi, Kourosh R" sort="Ahmadi, Kourosh R" uniqKey="Ahmadi K" first="Kourosh R" last="Ahmadi">Kourosh R. Ahmadi</name>
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<author><name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name>
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<author><name sortKey="Goldstein, David B" sort="Goldstein, David B" uniqKey="Goldstein D" first="David B" last="Goldstein">David B. Goldstein</name>
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<author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. Lees</name>
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<front><div type="abstract" xml:lang="en">To date, the etiology of multiple system atrophy (MSA) has proved impenetrable. We investigated the role of genetic variation in the UCHL-1 gene in MSA and looked for the presence of disease susceptibility alleles. We determined the linkage disequilibrium structure of the gene and employed a haplotype tagging strategy with power to represent 95% of the haplotype diversity. This approach was performed using a set of tagging single nucleotide polymorphisms (SNPs) that can infer the allelic state of all the common SNPs in UCHL-1 with a high coefficient of determination. This strategy enabled us to scan across the gene and maintain the power to detect signal(s) from any potential functional variant(s). In 257 Gilman-probable or -definite MSA subjects and 1,536 controls, we did not detect a case-control frequency difference for either the tagged haplotypes or for individual tagging SNPs. This search included the S18Y variant of UCHL-1, which has been reported to be protective in Parkinson's disease.</div>
</front>
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<name sortKey="Ahmadi, Kourosh R" sort="Ahmadi, Kourosh R" uniqKey="Ahmadi K" first="Kourosh R" last="Ahmadi">Kourosh R. Ahmadi</name>
<name sortKey="Burk, Katrin" sort="Burk, Katrin" uniqKey="Burk K" first="Katrin" last="Burk">Katrin Burk</name>
<name sortKey="Dupont, Erik" sort="Dupont, Erik" uniqKey="Dupont E" first="Erik" last="Dupont">Erik Dupont</name>
<name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name>
<name sortKey="Goldstein, David B" sort="Goldstein, David B" uniqKey="Goldstein D" first="David B" last="Goldstein">David B. Goldstein</name>
<name sortKey="Healy, Daniel G" sort="Healy, Daniel G" uniqKey="Healy D" first="Daniel G" last="Healy">Daniel G. Healy</name>
<name sortKey="Holton, Janice L" sort="Holton, Janice L" uniqKey="Holton J" first="Janice L" last="Holton">Janice L. Holton</name>
<name sortKey="Kamm, Christoph" sort="Kamm, Christoph" uniqKey="Kamm C" first="Christoph" last="Kamm">Christoph Kamm</name>
<name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. Lees</name>
<name sortKey="Oertel, Wolfgang H" sort="Oertel, Wolfgang H" uniqKey="Oertel W" first="Wolfgang H" last="Oertel">Wolfgang H. Oertel</name>
<name sortKey="Ozawa, Tetsutaro" sort="Ozawa, Tetsutaro" uniqKey="Ozawa T" first="Tetsutaro" last="Ozawa">Tetsutaro Ozawa</name>
<name sortKey="Pellecchia, Maria T" sort="Pellecchia, Maria T" uniqKey="Pellecchia M" first="Maria T" last="Pellecchia">Maria T. Pellecchia</name>
<name sortKey="Quinn, Niall" sort="Quinn, Niall" uniqKey="Quinn N" first="Niall" last="Quinn">Niall Quinn</name>
<name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name>
<name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name>
<name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W" last="Wood">Nicholas W. Wood</name>
<name sortKey="Wullner, Ullrich" sort="Wullner, Ullrich" uniqKey="Wullner U" first="Ullrich" last="Wullner">Ullrich Wullner</name>
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