Scientific Publications

Several peer-reviewed publications have resulted from research that has been made possible by the biospecimens available through the ACP Repository. If you are a researcher who has used samples from the Repository and you do not see your published work below, please contact Hollie Schmidt at 781-487-0099 or to have it added to the list.


Sergey Kalinin, Anne I. Boullerne, Douglas L.Feinstein. Serum levels of lipocalin-2 are elevated at early times in African American relapsing remitting multiple sclerosis patients. J. Neuroimmunology. Epub 2022 March 15.


Misicka E, Davis MF, Kim W, Brugger SW, Beales J, Loomis S, Bronson PG, Briggs FB. A higher burden of multiple sclerosis genetic risk confers an earlier onset. Mult Scler. 2021 Oct 28:13524585211053155. doi: 10.1177/13524585211053155. Epub ahead of print. PMID: 34709090.

Anne I Boullerne, Mitchell T Wallin , William J Culpepper, Heidi Maloni, Elizabeth A Boots, Dagmar M Sweeney, Douglas L Feinstein. Liver kinase B1 rs9282860 polymorphism and risk for multiple sclerosis in White and Black Americans. Multiple Sclerosis and Related Disorders. Oct;55:103185. doi: 10.1016/j.msard.2021.103185. Epub 2021 Aug 2.


Elina Misicka, Corriene Sept et al. Predicting onset of secondary‐progressive multiple sclerosis using genetic and non‐genetic factors. Journal of Neurology Published Online 2020 April 24


Paola Saroufima, Sophia A. Zweiga, et al. Cardiovascular conditions in persons with multiple sclerosis, neuromyelitis T optica and transverse myelitis. Multiple Sclerosis and Related Disorders 25. 2018 July 9. Volume 25 P21–25

Karol Estrada, Christopher W. Whelan, et al., A whole-genome sequence study idnetifies genetic risk factors for neuromyelitis optica. Nature Communications 9. 2018 May 16. Article Number 1929 (2018)


Lim CK, Bilgin A et al., Kynurenine pathway metabolomics predicts and provides mechanistic insight into multiple sclerosis progression. Sci Rep. 2017 Feb 3. 7:41473


An H, Lim C et al., Serum Leukocyte Immunoglobulin-Like Receptor A3 (LILRA3) Is Increased in Patients with Multiple Sclerosis and Is a Strong Independent Indicator of Disease Severity; 6.7kbp LILRA3 Gene Deletion Is Not Associated with Diseases Susceptibility. PLoS One. 2016 Feb 12. 11(2):e0149200.

Lovelace MD, Varney B et al., Current Evidence for a Role of the Kynurenine Pathway of Tryptophan Metabolism in Multiple Sclerosis. Front Immunol. 2016 Aug 4. 7:246.


Claire Simon K, Schmidt H et al., Epstein-Barr virus candidate genes and multiple sclerosis. Mult Scler Relat Disord. 2015 Jan. 4(1):60-4.

Spurlock CF 3rd, Tossberg JT et al., Defective structural RNA processing in relapsing-remitting multiple sclerosis. Genome Biol. 2015 Mar 25. 16:58.

Simon KC, Schmidt H et al., Risk factors for multiple sclerosis, neuromyelitis optica and transverse myelitis. Mult Scler. 2015 May. 21(6):703-9.


Zhang F, Tossberg JT et al., Expression of IL-33 and its epigenetic regulation in Multiple Sclerosis. Ann Clin Transl Neurol. 2014 May 1. 1(5):307-318.

Meyers L, Groover CJ et al., A role for Apolipoprotein A-I in the pathogenesis of multiple sclerosis. J Neuroimmunol. 2014 Dec 15. 277(1-2):176-85.


Li CF, Zhou RW et al., Hypomorphic MGAT5 polymorphisms promote multiple sclerosis cooperatively with MGAT1 and interleukin-2 and 7 receptor variants. J Neuroimmunol. 2013 Mar 15. 256(1-2):71-6

Raveendra BL, Wu H et al., Discovery of peptoid ligands for anti-aquaporin 4 antibodies. Chem Biol. 2013 Mar 21. 20(3):351-9.

Tossberg JT, Crooke PS et al., Using biomarkers to predict progression from clinically isolated syndrome to multiple sclerosis. J Clin Bioinforma. 2013 Oct 3. 3(1):18.


Tossberg JT, Crooke P S, Henderson M A et al., Gene-expression signatures: biomarkers toward diagnosing multiple sclerosis. Genes and Immunity. 2012 Feb. 13:146-154.

Kumagai C, Kalman B et al., Increased promoter methylation of the immune regulatory gene SHP-1 in leukocytes of multiple sclerosis subjects. J Neuroimmunol. 2012 May 15. 246(1-2):51-7.

Grigorian A, Mkhikian H et al., Pathogenesis of multiple sclerosis via environmental and genetic dysregulation of N-glycosylation. Semin Immunopathol. 2012 May. 34(3):415-24.

Rossi A, Ratelade J et al., Neuromyelitis optica IgG does not alter aquaporin-4 water permeability, plasma membrane M1/M23 isoform content, or supramolecular assembly. Glia. 2012 Dec. 60(12):2027-39.

Wang L, Liu R et al., A hypermorphic SP1-binding CD24 variant associates with risk and progression of multiple sclerosisAm J Transl Res. 2012. 4(3):347-56.


Matiello M, Schaefer-Klein JL, Hebrink DD et al., Genetic analysis of aquaporin-4 in neuromyelitis optica. Neurology. 2011 Sept 20. 77(12):1149-55.

Sawcer S, Hellenthal G, Pirinen M et al., Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature. 2011 Aug 10. 476:214–219.

Mkhikian H, Grigorian A, Li CF. Genetics and the environment converge to dysregulate N-glycosylation in multiple sclerosis. Nature Communications. 2011 May 31.

Stuve O, Wang J, Chan A et al., No association between genetic polymorphism at codon 129 of the prion protein gene and primary progressive multiple sclerosis. Arch Neurol. 2011 Feb. 68(2):264-5.


Matiello M, Schaefer-Klein J, Brum DG et al., HLA-DRB1*1501 tagging rs3135388 polymorphism is not associated with neuromyelitis optica. Mult Scler. 2010 Aug. 16(8):981-4.

Esposito F, Patsopoulos NA, Cepok S et al., IL12A, MPHOSPH9/CDK2AP1 and RGS1 are novel multiple sclerosis susceptibility loci. Genes Immun. 2010 Jul. 11(5):397-405.

Zuvich RL, McCauley JL, Oksenberg JR et al., Genetic variation in the IL7RA/IL7 pathway increases multiple sclerosis susceptibility. Hum Genet. 2010 Mar. 127(5):525-35.


McCauley JL, Zuvich RL, Beecham AL et al., Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibility loci. Hum Mol Genet. 2010 Mar 1. 19(5):953-62.

De Jager PL, Jia X, Wang J et al., Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. Nat Genet. 2009 Jul. 41(7):776-82.

Brettschneider J, Jaskowski TD, et al., Serum anti-GAGA4 IgM antibodies differentiate relapsing remitting and secondary progressive multiple sclerosis from primary progressive multiple sclerosis and other neurological diseases. J Neuroimmunol 2009 Dec 10. 217(1-2):95-101.


Vyshkina T, Sylvester A, Sadiq S et al., Association of common mitochondrial DNA variants with multiple sclerosis and systemic lupus erythematosus. Clin Immunol. 2008 Oct. 129(1):31-5.

Vyshkina T, Sylvester A, Sadiq S et al., CCL genes in multiple sclerosis and systemic lupus erythematosus. J Neuroimmunol. 2008 Aug 30. 200(1-2):145-52.