LRRK2 exonic variants and risk of multiple system atrophy
Identifieur interne : 000B74 ( Main/Exploration ); précédent : 000B73; suivant : 000B75LRRK2 exonic variants and risk of multiple system atrophy
Auteurs : Michael G. Heckman ; Lucia Schottlaender ; Alexandra I. Soto-Ortolaza ; Nancy N. Diehl ; Sruti Rayaprolu ; Kotaro Ogaki ; Shinsuke Fujioka ; Melissa E. Murray ; William P. Cheshire ; Ryan J. Uitti ; Zbigniew K. Wszolek ; Matthew J. Farrer ; Anna Sailer ; Andrew B. Singleton ; Patrick F. Chinnery ; Michael J. Keogh ; Steve M. Gentleman ; Janice L. Holton ; Kiely Aoife ; David M. A. Mann ; Safa Al-Sarraj ; Claire Troakes ; Dennis W. Dickson ; Henry Houlden ; Owen A. RossSource :
- Neurology [ 0028-3878 ] ; 2014.
Abstract
The aim of this study was to evaluate the association between common exonic variants in the leucine-rich repeat kinase 2 (
One series from the United States (92 patients with pathologically confirmed MSA, 416 controls) and a second series from the United Kingdom (85 patients with pathologically confirmed MSA, 352 controls) were included in this case-control study. We supplemented these data with those of 53 patients from the United States with clinically probable or possible MSA. Seventeen common
In the combined series of 177 patients with pathologically confirmed MSA and 768 controls, there was a significant association between LRRK2 p.M2397T and MSA (odds ratio [OR] = 0.60,
These findings provide evidence that
Url:
DOI: 10.1212/WNL.0000000000001078
PubMed: 25378673
PubMed Central: 4277668
Affiliations:
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Diehl</name></author><author><name sortKey="Rayaprolu, Sruti" sort="Rayaprolu, Sruti" uniqKey="Rayaprolu S" first="Sruti" last="Rayaprolu">Sruti Rayaprolu</name></author><author><name sortKey="Ogaki, Kotaro" sort="Ogaki, Kotaro" uniqKey="Ogaki K" first="Kotaro" last="Ogaki">Kotaro Ogaki</name></author><author><name sortKey="Fujioka, Shinsuke" sort="Fujioka, Shinsuke" uniqKey="Fujioka S" first="Shinsuke" last="Fujioka">Shinsuke Fujioka</name></author><author><name sortKey="Murray, Melissa E" sort="Murray, Melissa E" uniqKey="Murray M" first="Melissa E." last="Murray">Melissa E. Murray</name></author><author><name sortKey="Cheshire, William P" sort="Cheshire, William P" uniqKey="Cheshire W" first="William P." last="Cheshire">William P. Cheshire</name></author><author><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name></author><author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name></author><author><name sortKey="Sailer, Anna" sort="Sailer, Anna" uniqKey="Sailer A" first="Anna" last="Sailer">Anna Sailer</name></author><author><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B." last="Singleton">Andrew B. Singleton</name></author><author><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F." last="Chinnery">Patrick F. Chinnery</name></author><author><name sortKey="Keogh, Michael J" sort="Keogh, Michael J" uniqKey="Keogh M" first="Michael J." last="Keogh">Michael J. Keogh</name></author><author><name sortKey="Gentleman, Steve M" sort="Gentleman, Steve M" uniqKey="Gentleman S" first="Steve M." last="Gentleman">Steve M. Gentleman</name></author><author><name sortKey="Holton, Janice L" sort="Holton, Janice L" uniqKey="Holton J" first="Janice L." last="Holton">Janice L. Holton</name></author><author><name sortKey="Aoife, Kiely" sort="Aoife, Kiely" uniqKey="Aoife K" first="Kiely" last="Aoife">Kiely Aoife</name></author><author><name sortKey="Mann, David M A" sort="Mann, David M A" uniqKey="Mann D" first="David M. A." last="Mann">David M. A. Mann</name></author><author><name sortKey="Al Sarraj, Safa" sort="Al Sarraj, Safa" uniqKey="Al Sarraj S" first="Safa" last="Al-Sarraj">Safa Al-Sarraj</name></author><author><name sortKey="Troakes, Claire" sort="Troakes, Claire" uniqKey="Troakes C" first="Claire" last="Troakes">Claire Troakes</name></author><author><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name></author><author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25378673</idno><idno type="pmc">4277668</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4277668</idno><idno type="RBID">PMC:4277668</idno><idno type="doi">10.1212/WNL.0000000000001078</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">000621</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000621</idno><idno type="wicri:Area/Pmc/Curation">000621</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000621</idno><idno type="wicri:Area/Pmc/Checkpoint">000548</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000548</idno><idno type="wicri:Area/Ncbi/Merge">001956</idno><idno type="wicri:Area/Ncbi/Curation">001956</idno><idno type="wicri:Area/Ncbi/Checkpoint">001956</idno><idno type="wicri:Area/Main/Merge">000B79</idno><idno type="wicri:Area/Main/Curation">000B74</idno><idno type="wicri:Area/Main/Exploration">000B74</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>LRRK2</italic> exonic variants and risk of multiple system atrophy</title><author><name sortKey="Heckman, Michael G" sort="Heckman, Michael G" uniqKey="Heckman M" first="Michael G." last="Heckman">Michael G. Heckman</name></author><author><name sortKey="Schottlaender, Lucia" sort="Schottlaender, Lucia" uniqKey="Schottlaender L" first="Lucia" last="Schottlaender">Lucia Schottlaender</name></author><author><name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I." last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name></author><author><name sortKey="Diehl, Nancy N" sort="Diehl, Nancy N" uniqKey="Diehl N" first="Nancy N." last="Diehl">Nancy N. Diehl</name></author><author><name sortKey="Rayaprolu, Sruti" sort="Rayaprolu, Sruti" uniqKey="Rayaprolu S" first="Sruti" last="Rayaprolu">Sruti Rayaprolu</name></author><author><name sortKey="Ogaki, Kotaro" sort="Ogaki, Kotaro" uniqKey="Ogaki K" first="Kotaro" last="Ogaki">Kotaro Ogaki</name></author><author><name sortKey="Fujioka, Shinsuke" sort="Fujioka, Shinsuke" uniqKey="Fujioka S" first="Shinsuke" last="Fujioka">Shinsuke Fujioka</name></author><author><name sortKey="Murray, Melissa E" sort="Murray, Melissa E" uniqKey="Murray M" first="Melissa E." last="Murray">Melissa E. Murray</name></author><author><name sortKey="Cheshire, William P" sort="Cheshire, William P" uniqKey="Cheshire W" first="William P." last="Cheshire">William P. Cheshire</name></author><author><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name></author><author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name></author><author><name sortKey="Sailer, Anna" sort="Sailer, Anna" uniqKey="Sailer A" first="Anna" last="Sailer">Anna Sailer</name></author><author><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B." last="Singleton">Andrew B. Singleton</name></author><author><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F." last="Chinnery">Patrick F. Chinnery</name></author><author><name sortKey="Keogh, Michael J" sort="Keogh, Michael J" uniqKey="Keogh M" first="Michael J." last="Keogh">Michael J. Keogh</name></author><author><name sortKey="Gentleman, Steve M" sort="Gentleman, Steve M" uniqKey="Gentleman S" first="Steve M." last="Gentleman">Steve M. Gentleman</name></author><author><name sortKey="Holton, Janice L" sort="Holton, Janice L" uniqKey="Holton J" first="Janice L." last="Holton">Janice L. Holton</name></author><author><name sortKey="Aoife, Kiely" sort="Aoife, Kiely" uniqKey="Aoife K" first="Kiely" last="Aoife">Kiely Aoife</name></author><author><name sortKey="Mann, David M A" sort="Mann, David M A" uniqKey="Mann D" first="David M. A." last="Mann">David M. A. Mann</name></author><author><name sortKey="Al Sarraj, Safa" sort="Al Sarraj, Safa" uniqKey="Al Sarraj S" first="Safa" last="Al-Sarraj">Safa Al-Sarraj</name></author><author><name sortKey="Troakes, Claire" sort="Troakes, Claire" uniqKey="Troakes C" first="Claire" last="Troakes">Claire Troakes</name></author><author><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name></author><author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name></author></analytic><series><title level="j">Neurology</title><idno type="ISSN">0028-3878</idno><idno type="eISSN">1526-632X</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Objective:</title><p>The aim of this study was to evaluate the association between common exonic variants in the leucine-rich repeat kinase 2 (<italic>LRRK2</italic>) gene and risk of multiple system atrophy (MSA).</p></sec><sec><title>Methods:</title><p>One series from the United States (92 patients with pathologically confirmed MSA, 416 controls) and a second series from the United Kingdom (85 patients with pathologically confirmed MSA, 352 controls) were included in this case-control study. We supplemented these data with those of 53 patients from the United States with clinically probable or possible MSA. Seventeen common <italic>LRRK2</italic> exonic variants were genotyped and assessed for association with MSA.</p></sec><sec><title>Results:</title><p>In the combined series of 177 patients with pathologically confirmed MSA and 768 controls, there was a significant association between LRRK2 p.M2397T and MSA (odds ratio [OR] = 0.60, <italic>p</italic> = 0.002). This protective effect was observed more strongly in the US series (OR = 0.46, <italic>p</italic> = 0.0008) than the UK series (OR = 0.82, <italic>p</italic> = 0.41). We observed other noteworthy associations with MSA for p.G1624G (OR = 0.63, <italic>p</italic> = 0.006) and p.N2081D (OR = 0.15, <italic>p</italic> = 0.010). The p.G1624G-M2397T haplotype was significantly associated with MSA in the US series (<italic>p</italic> < 0.0001) and combined series (<italic>p</italic> = 0.003) but not the UK series (<italic>p</italic> = 0.67). Results were consistent when additionally including the US patients with clinical MSA, where the strongest single-variant association was again observed for p.M2397T (OR = 0.59, <italic>p</italic> = 0.0005).</p></sec><sec><title>Conclusions:</title><p>These findings provide evidence that <italic>LRRK2</italic> exonic variants may contribute to susceptibility to MSA. Validation in other series and meta-analytic studies will be important.</p></sec></div></front></TEI><affiliations><list></list><tree><noCountry><name sortKey="Al Sarraj, Safa" sort="Al Sarraj, Safa" uniqKey="Al Sarraj S" first="Safa" last="Al-Sarraj">Safa Al-Sarraj</name><name sortKey="Aoife, Kiely" sort="Aoife, Kiely" uniqKey="Aoife K" first="Kiely" last="Aoife">Kiely Aoife</name><name sortKey="Cheshire, William P" sort="Cheshire, William P" uniqKey="Cheshire W" first="William P." last="Cheshire">William P. Cheshire</name><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F." last="Chinnery">Patrick F. Chinnery</name><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name><name sortKey="Diehl, Nancy N" sort="Diehl, Nancy N" uniqKey="Diehl N" first="Nancy N." last="Diehl">Nancy N. Diehl</name><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><name sortKey="Fujioka, Shinsuke" sort="Fujioka, Shinsuke" uniqKey="Fujioka S" first="Shinsuke" last="Fujioka">Shinsuke Fujioka</name><name sortKey="Gentleman, Steve M" sort="Gentleman, Steve M" uniqKey="Gentleman S" first="Steve M." last="Gentleman">Steve M. Gentleman</name><name sortKey="Heckman, Michael G" sort="Heckman, Michael G" uniqKey="Heckman M" first="Michael G." last="Heckman">Michael G. Heckman</name><name sortKey="Holton, Janice L" sort="Holton, Janice L" uniqKey="Holton J" first="Janice L." last="Holton">Janice L. Holton</name><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name><name sortKey="Keogh, Michael J" sort="Keogh, Michael J" uniqKey="Keogh M" first="Michael J." last="Keogh">Michael J. Keogh</name><name sortKey="Mann, David M A" sort="Mann, David M A" uniqKey="Mann D" first="David M. A." last="Mann">David M. A. Mann</name><name sortKey="Murray, Melissa E" sort="Murray, Melissa E" uniqKey="Murray M" first="Melissa E." last="Murray">Melissa E. Murray</name><name sortKey="Ogaki, Kotaro" sort="Ogaki, Kotaro" uniqKey="Ogaki K" first="Kotaro" last="Ogaki">Kotaro Ogaki</name><name sortKey="Rayaprolu, Sruti" sort="Rayaprolu, Sruti" uniqKey="Rayaprolu S" first="Sruti" last="Rayaprolu">Sruti Rayaprolu</name><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><name sortKey="Sailer, Anna" sort="Sailer, Anna" uniqKey="Sailer A" first="Anna" last="Sailer">Anna Sailer</name><name sortKey="Schottlaender, Lucia" sort="Schottlaender, Lucia" uniqKey="Schottlaender L" first="Lucia" last="Schottlaender">Lucia Schottlaender</name><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B." last="Singleton">Andrew B. Singleton</name><name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I." last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name><name sortKey="Troakes, Claire" sort="Troakes, Claire" uniqKey="Troakes C" first="Claire" last="Troakes">Claire Troakes</name><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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