Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients

Cathy J. Jensen; Jim Stankovich; Anneke Van der Walt; Melanie Bahlo; Bruce V. Taylor; Ingrid A.F. van der Mei; Simon J. Foote; Trevor J. Kilpatrick; Laura J. Johnson; Ella Wilkins; Judith Field; Patrick Danoy; Matthew A. Brown; Justin P. Rubio; Helmut Butzkueven; David R. Booth; Simon A. Broadley; Brian L. Browning; Sharon R. Browning; William M. Carroll; Lyn R. Griffiths; Robert N. Heard; Allan G. Kermode; Jeanette Lechner-Scott; Pablo Moscato; Victoria M. Perreau; Rodney J. Scott; Mark Slee; Graeme J. Stewart; James Wiley

doi:10.1371/journal.pone.0010003

Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients

Cathy J. Jensen, Jim Stankovich, Anneke Van der Walt, Melanie Bahlo, Bruce V. Taylor, Ingrid A.F. van der Mei, Simon J. Foote, Trevor J. Kilpatrick, Laura J. Johnson, Ella Wilkins, Judith Field, Patrick Danoy, Matthew A. Brown, Justin P. Rubio, Helmut Butzkueven^*, David R. Booth, Simon A. Broadley, Brian L. Browning, Sharon R. Browning, William M. CarrollLyn R. Griffiths, Robert N. Heard, Allan G. Kermode, Jeanette Lechner-Scott, Pablo Moscato, Victoria M. Perreau, Rodney J. Scott, Mark Slee, Graeme J. Stewart, James Wiley

^*Corresponding author for this work

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

46 Citations (Scopus)

Abstract

Recent association studies in multiple sclerosis (MS) have identified and replicated several single nucleotide polymorphism (SNP) susceptibility loci including CLEC16A, IL2RA, IL7R, RPL5, CD58, CD40 and chromosome 12q13-14 in addition to the well established allele HLA-DR15. There is potential that these genetic susceptibility factors could also modulate MS disease severity, as demonstrated previously for the MS risk allele HLA-DR15. We investigated this hypothesis in a cohort of 1006 well characterised MS patients from South-Eastern Australia. We tested the MS-associated SNPs for association with five measures of disease severity incorporating disability, age of onset, cognition and brain atrophy. We observed trends towards association between the RPL5 risk SNP and time between first demyelinating event and relapse, and between the CD40 risk SNP and symbol digit test score. No associations were significant after correction for multiple testing. We found no evidence for the hypothesis that these new MS disease risk-associated SNPs influence disease severity.

Original language	English
Article number	e10003
Journal	PLoS ONE
Volume	5
Issue number	4
DOIs	https://doi.org/10.1371/journal.pone.0010003
Publication status	Published - 2010
Externally published	Yes

Access to Document

10.1371/journal.pone.0010003

Cite this

Jensen, C. J., Stankovich, J., Van der Walt, A., Bahlo, M., Taylor, B. V., van der Mei, I. A. F., Foote, S. J., Kilpatrick, T. J., Johnson, L. J., Wilkins, E., Field, J., Danoy, P., Brown, M. A., Rubio, J. P., Butzkueven, H., Booth, D. R., Broadley, S. A., Browning, B. L., Browning, S. R., ... Wiley, J. (2010). Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients. PLoS ONE, 5(4), Article e10003. https://doi.org/10.1371/journal.pone.0010003

@article{4234fbafb93a4e3f8779c2ac36608cbc,

title = "Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients",

abstract = "Recent association studies in multiple sclerosis (MS) have identified and replicated several single nucleotide polymorphism (SNP) susceptibility loci including CLEC16A, IL2RA, IL7R, RPL5, CD58, CD40 and chromosome 12q13-14 in addition to the well established allele HLA-DR15. There is potential that these genetic susceptibility factors could also modulate MS disease severity, as demonstrated previously for the MS risk allele HLA-DR15. We investigated this hypothesis in a cohort of 1006 well characterised MS patients from South-Eastern Australia. We tested the MS-associated SNPs for association with five measures of disease severity incorporating disability, age of onset, cognition and brain atrophy. We observed trends towards association between the RPL5 risk SNP and time between first demyelinating event and relapse, and between the CD40 risk SNP and symbol digit test score. No associations were significant after correction for multiple testing. We found no evidence for the hypothesis that these new MS disease risk-associated SNPs influence disease severity.",

author = "Jensen, {Cathy J.} and Jim Stankovich and {Van der Walt}, Anneke and Melanie Bahlo and Taylor, {Bruce V.} and {van der Mei}, {Ingrid A.F.} and Foote, {Simon J.} and Kilpatrick, {Trevor J.} and Johnson, {Laura J.} and Ella Wilkins and Judith Field and Patrick Danoy and Brown, {Matthew A.} and Rubio, {Justin P.} and Helmut Butzkueven and Booth, {David R.} and Broadley, {Simon A.} and Browning, {Brian L.} and Browning, {Sharon R.} and Carroll, {William M.} and Griffiths, {Lyn R.} and Heard, {Robert N.} and Kermode, {Allan G.} and Jeanette Lechner-Scott and Pablo Moscato and Perreau, {Victoria M.} and Scott, {Rodney J.} and Mark Slee and Stewart, {Graeme J.} and James Wiley",

year = "2010",

doi = "10.1371/journal.pone.0010003",

language = "English",

volume = "5",

journal = "PLoS ONE",

issn = "1932-6203",

publisher = "Public Library of Science",

number = "4",

}

Jensen, CJ, Stankovich, J, Van der Walt, A, Bahlo, M, Taylor, BV, van der Mei, IAF, Foote, SJ, Kilpatrick, TJ, Johnson, LJ, Wilkins, E, Field, J, Danoy, P, Brown, MA, Rubio, JP, Butzkueven, H, Booth, DR, Broadley, SA, Browning, BL, Browning, SR, Carroll, WM, Griffiths, LR, Heard, RN, Kermode, AG, Lechner-Scott, J, Moscato, P, Perreau, VM, Scott, RJ, Slee, M, Stewart, GJ & Wiley, J 2010, 'Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients', PLoS ONE, vol. 5, no. 4, e10003. https://doi.org/10.1371/journal.pone.0010003

TY - JOUR

T1 - Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients

AU - Jensen, Cathy J.

AU - Stankovich, Jim

AU - Van der Walt, Anneke

AU - Bahlo, Melanie

AU - Taylor, Bruce V.

AU - van der Mei, Ingrid A.F.

AU - Foote, Simon J.

AU - Kilpatrick, Trevor J.

AU - Johnson, Laura J.

AU - Wilkins, Ella

AU - Field, Judith

AU - Danoy, Patrick

AU - Brown, Matthew A.

AU - Rubio, Justin P.

AU - Butzkueven, Helmut

AU - Booth, David R.

AU - Broadley, Simon A.

AU - Browning, Brian L.

AU - Browning, Sharon R.

AU - Carroll, William M.

AU - Griffiths, Lyn R.

AU - Heard, Robert N.

AU - Kermode, Allan G.

AU - Lechner-Scott, Jeanette

AU - Moscato, Pablo

AU - Perreau, Victoria M.

AU - Scott, Rodney J.

AU - Slee, Mark

AU - Stewart, Graeme J.

AU - Wiley, James

PY - 2010

Y1 - 2010

N2 - Recent association studies in multiple sclerosis (MS) have identified and replicated several single nucleotide polymorphism (SNP) susceptibility loci including CLEC16A, IL2RA, IL7R, RPL5, CD58, CD40 and chromosome 12q13-14 in addition to the well established allele HLA-DR15. There is potential that these genetic susceptibility factors could also modulate MS disease severity, as demonstrated previously for the MS risk allele HLA-DR15. We investigated this hypothesis in a cohort of 1006 well characterised MS patients from South-Eastern Australia. We tested the MS-associated SNPs for association with five measures of disease severity incorporating disability, age of onset, cognition and brain atrophy. We observed trends towards association between the RPL5 risk SNP and time between first demyelinating event and relapse, and between the CD40 risk SNP and symbol digit test score. No associations were significant after correction for multiple testing. We found no evidence for the hypothesis that these new MS disease risk-associated SNPs influence disease severity.

AB - Recent association studies in multiple sclerosis (MS) have identified and replicated several single nucleotide polymorphism (SNP) susceptibility loci including CLEC16A, IL2RA, IL7R, RPL5, CD58, CD40 and chromosome 12q13-14 in addition to the well established allele HLA-DR15. There is potential that these genetic susceptibility factors could also modulate MS disease severity, as demonstrated previously for the MS risk allele HLA-DR15. We investigated this hypothesis in a cohort of 1006 well characterised MS patients from South-Eastern Australia. We tested the MS-associated SNPs for association with five measures of disease severity incorporating disability, age of onset, cognition and brain atrophy. We observed trends towards association between the RPL5 risk SNP and time between first demyelinating event and relapse, and between the CD40 risk SNP and symbol digit test score. No associations were significant after correction for multiple testing. We found no evidence for the hypothesis that these new MS disease risk-associated SNPs influence disease severity.

UR - http://www.scopus.com/inward/record.url?scp=77956333737&partnerID=8YFLogxK

U2 - 10.1371/journal.pone.0010003

DO - 10.1371/journal.pone.0010003

M3 - Article

SN - 1932-6203

VL - 5

JO - PLoS ONE

JF - PLoS ONE

IS - 4

M1 - e10003

ER -

Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients

Abstract

Access to Document

Other files and links

Fingerprint

Cite this