Genetic risk variants in African Americans with multiple sclerosis

被引：46

作者：

Isobe, Noriko ^{[1
]}

Gourraud, Pierre-Antoine ^{[1
]}

Harbo, Hanne F. ^{[2
]}

Caillier, Stacy J. ^{[1
]}

Santaniello, Adam ^{[1
]}

Khankhanian, Pouya ^{[1
]}

Maiers, Martin ^{[3
]}

Spellman, Stephen ^{[4
]}

Cereb, Nezih ^{[5
]}

Yang, SooYoung ^{[5
]}

Pando, Marcelo J. ^{[6
]}

Piccio, Laura ^{[7
]}

Cross, Anne H. ^{[7
]}

De Jager, Philip L. ^{[8
,9
,10
,11
,12
]}

Cree, Bruce A. C. ^{[1
]}

Hauser, Stephen L. ^{[1
]}

Oksenberg, Jorge R. ^{[1
]}

机构：

[1] Univ Calif San Francisco, Sch Med, Dept Neurol, San Francisco, CA 94143 USA

[2] Oslo Univ Hosp, Dept Neurol, Oslo, Norway

[3] Natl Marrow Donor Program, Minneapolis, MN USA

[4] Ctr Int Blood & Marrow Transplant Res, Minneapolis, MN USA

[5] Histogenetics LLC, Ossining, NY USA

[6] Stanford Univ, Dept Pathol, Sch Med, Stanford, CA 94305 USA

[7] Washington Univ, Dept Neurol, St Louis, MO USA

[8] Brigham & Womens Hosp, Dept Neurol, Program Translat NeuroPsychiat Genom, Boston, MA 02115 USA

[9] Brigham & Womens Hosp, Dept Psychiat, Program Translat NeuroPsychiat Genom, Boston, MA 02115 USA

[10] Harvard Univ, Sch Med, Boston, MA USA

[11] Harvard Univ, Broad Inst, Cambridge, MA 02138 USA

[12] MIT, Cambridge, MA 02139 USA

来源：

NEUROLOGY | 2013年 / 81卷 / 03期

关键词：

GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY LOCI; INFORMATIVE MARKERS; ALLELES; HLA; ADMIXTURE; METAANALYSIS; POPULATION; ANCESTRY; HLA-DRB1;

D O I：

10.1212/WNL.0b013e31829bfe2f

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Objectives: To assess the association of established multiple sclerosis (MS) risk variants in 3,254 African Americans (1,162 cases and 2,092 controls). Methods: Human leukocyte antigen (HLA)-DRB1, HLA-DQB1, and HLA-A alleles were typed by molecular techniques. Single nucleotide polymorphism (SNP) genotyping was conducted for 76 MS-associated SNPs and 52 ancestry informative marker SNPs selected throughout the genome. Self-declared ancestry was refined by principal component analysis of the ancestry informative marker SNPs. An ancestry-adjusted multivariate model was applied to assess genetic associations. Results: The following major histocompatibility complex risk alleles were replicated: HLA-DRB1(star) 15:01 (odds ratio [OR] = 2.02 [95% confidence interval: 1.54-2.63], p = 2.50e-07), HLA-DRB1(star) 03: 01 (OR = 1.58 [1.29-1.94], p = 1.11e-05), as well as HLA-DRB1(star) 04:05 (OR = 2.35 [1.26-4.37], p = 0.007) and the African-specific risk allele of HLA-DRB1(star) 15:03 (OR = 1.26 [1.05-1.51], p = 0.012). The protective association of HLA-A(star) 02: 01 was confirmed (OR = 0.72 [0.55-0.93], p = 0.013). None of the HLA-DQB1 alleles were associated with MS. Using a significance threshold of p < 0.01, outside the major histocompatibility complex region, 8MS SNPs were also found to be associated with MS in African Americans. Conclusion: MS genetic risk in African Americans only partially overlaps with that of Europeans and could explain the difference of MS prevalence between populations.

引用

页码：219 / 227

页数：9

共 50 条

[21] Clinical Characteristics of Multiple Sclerosis in African-Americans
Veronica P. Cipriani
Sara Klein
Current Neurology and Neuroscience Reports, 2019, 19
[22] Symptoms of multiple sclerosis more severe in African Americans
不详
JOURNAL OF THE NATIONAL MEDICAL ASSOCIATION, 2004, 96 (06) : 750 - 750
[23] COMPARISONS OF LATINOS, AFRICAN AMERICANS, AND CAUCASIANS WITH MULTIPLE SCLEROSIS
Buchanan, Robert J.
Zuniga, Miguel A.
Carrillo-Zuniga, Genny
Chakravorty, Bonnie J.
Tyry, Tuula
Moreau, Rachel L.
Huang, Chunfeng
Vollmer, Timothy
ETHNICITY & DISEASE, 2010, 20 (04) : 451 - 457
[24] Regional cortical thickness in African Americans with multiple sclerosis
Alkawaz, M.
Monohan, E.
Perumal, J. S.
Nealon, N.
Vartanian, T.
Gauthier, S.
MULTIPLE SCLEROSIS JOURNAL, 2014, 20 : 293 - 293
[25] Rapid disease course in African Americans with multiple sclerosis
Kister, I.
Chamot, E.
Bacon, J. H.
Niewczyk, P. M.
De Guzman, R. A.
Apatoff, B.
Coyle, P.
Goodman, A. D.
Gottesman, M.
Granger, C.
Jubelt, B.
Krupp, L.
Lenihan, M.
Lublin, F.
Mihai, C.
Miller, A.
Munschauer, F. E., III
Perel, A. B.
Teter, B. E.
Weinstock-Guttman, B.
Zivadinov, R.
Herbert, J.
NEUROLOGY, 2010, 75 (03) : 217 - 223
[26] Fatigue and motor disability in African Americans with multiple sclerosis
Petracca, M.
Margoni, M.
Boffa, G.
Droby, A.
El Mendili, M. M.
Paduri, S.
Dobrich, O.
Kurtz, D.
Riley, C.
Howard, J.
Klineova, S.
Inglese, M.
MULTIPLE SCLEROSIS JOURNAL, 2018, 24 : 151 - 152
[27] Refining the association of MHC with multiple sclerosis in African Americans
McElroy, Joseph P.
Cree, Bruce A. C.
Caillier, Stacy J.
Gregersen, Peter K.
Herbert, Joseph
Khan, Omar A.
Freudenberg, Jan
Lee, Annette
Bridges, S. Louis, Jr.
Hauser, Stephen L.
Oksenberg, Jorge R.
Gourraud, Pierre-Antoine
HUMAN MOLECULAR GENETICS, 2010, 19 (15) : 3080 - 3088
[28] Clinical Characteristics of Multiple Sclerosis in African-Americans
Cipriani, Veronica P.
Klein, Sara
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS, 2019, 19 (11)
[29] Multiple sclerosis in African-Americans with multiple sclerosis: insights into disease severity and comparison with Caucasian multiple sclerosis
Khan, O.
Mackenzie, M.
Caon, C.
Dantzer, L.
Bao, F.
Latif, Z.
Tselis, A.
Ozust, C.
Hudson, A.
MULTIPLE SCLEROSIS, 2006, 12 : S38 - S39
[30] National African American Multiple Sclerosis Registry: Advancing Equitable Care and Outcomes for African Americans with Multiple Sclerosis
Okai, Annette F.
Howard, Annette M.
Williams, Mitzi J.
Brink, Justine D.
Chen, Chiayi
Stuchiner, Tamela L.
Baraban, Elizabeth
Cohan, Stanley
NEUROLOGY, 2021, 96 (15)

← 1 2 3 4 5 →