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Items: 1 to 20 of 80

1.

Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations.

Olafsson S, Stridh P, Bos SD, Ingason A, Euesden J, Sulem P, Thorleifsson G, Gustafsson O, Johannesson A, Geirsson AJ, Thorsson AV, Sigurgeirsson B, Ludviksson BR, Olafsson E, Kristjansdottir H, Jonasson JG, Olafsson JH, Orvar KB, Benediktsson R, Bjarnason R, Kristjansdottir S, Gislason T, Valdimarsson T, Mikaelsdottir E, Sigurdsson S, Jonsson S, Rafnar T, Aarsland D, Djurovic S, Fladby T, Knudsen GP, Celius EG, Myhr KM, Grondal G, Steinsson K, Valdimarsson H, Bjornsson S, Bjornsdottir US, Bjornsson ES, Nilsson B, Andreassen OA, Alfredsson L, Hillert J, Kockum IS, Masson G, Thorsteinsdottir U, Gudbjartsson DF, Stefansson H, Hjaltason H, Harbo HF, Olsson T, Jonsdottir I, Stefansson K.

NPJ Genom Med. 2017 Aug 8;2:24. doi: 10.1038/s41525-017-0027-2. eCollection 2017.

2.

An ImmunoChip study of multiple sclerosis risk in African Americans.

Isobe N, Madireddy L, Khankhanian P, Matsushita T, Caillier SJ, Moré JM, Gourraud PA, McCauley JL, Beecham AH; International Multiple Sclerosis Genetics Consortium, Piccio L, Herbert J, Khan O, Cohen J, Stone L, Santaniello A, Cree BA, Onengut-Gumuscu S, Rich SS, Hauser SL, Sawcer S, Oksenberg JR.

Brain. 2015 Jun;138(Pt 6):1518-30. doi: 10.1093/brain/awv078. Epub 2015 Mar 28.

3.

Exome sequencing identifies a novel multiple sclerosis susceptibility variant in the TYK2 gene.

Dyment DA, Cader MZ, Chao MJ, Lincoln MR, Morrison KM, Disanto G, Morahan JM, De Luca GC, Sadovnick AD, Lepage P, Montpetit A, Ebers GC, Ramagopalan SV.

Neurology. 2012 Jul 31;79(5):406-11. doi: 10.1212/WNL.0b013e3182616fc4. Epub 2012 Jun 27.

4.

Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants.

Juran BD, Hirschfield GM, Invernizzi P, Atkinson EJ, Li Y, Xie G, Kosoy R, Ransom M, Sun Y, Bianchi I, Schlicht EM, Lleo A, Coltescu C, Bernuzzi F, Podda M, Lammert C, Shigeta R, Chan LL, Balschun T, Marconi M, Cusi D, Heathcote EJ, Mason AL, Myers RP, Milkiewicz P, Odin JA, Luketic VA, Bacon BR, Bodenheimer HC Jr, Liakina V, Vincent C, Levy C, Franke A, Gregersen PK, Bossa F, Gershwin ME, deAndrade M, Amos CI; Italian PBC Genetics Study Group, Lazaridis KN, Seldin MF, Siminovitch KA.

Hum Mol Genet. 2012 Dec 1;21(23):5209-21. doi: 10.1093/hmg/dds359. Epub 2012 Aug 29.

5.

Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.

Hirschfield GM, Liu X, Xu C, Lu Y, Xie G, Lu Y, Gu X, Walker EJ, Jing K, Juran BD, Mason AL, Myers RP, Peltekian KM, Ghent CN, Coltescu C, Atkinson EJ, Heathcote EJ, Lazaridis KN, Amos CI, Siminovitch KA.

N Engl J Med. 2009 Jun 11;360(24):2544-55. doi: 10.1056/NEJMoa0810440. Epub 2009 May 20. Erratum in: N Engl J Med. 2009 Jun 25;360(26):2797-8.

6.

Genome-wide association study identifies variants associated with autoimmune hepatitis type 1.

de Boer YS, van Gerven NM, Zwiers A, Verwer BJ, van Hoek B, van Erpecum KJ, Beuers U, van Buuren HR, Drenth JP, den Ouden JW, Verdonk RC, Koek GH, Brouwer JT, Guichelaar MM, Vrolijk JM, Kraal G, Mulder CJ, van Nieuwkerk CM, Fischer J, Berg T, Stickel F, Sarrazin C, Schramm C, Lohse AW, Weiler-Normann C, Lerch MM, Nauck M, Völzke H, Homuth G, Bloemena E, Verspaget HW, Kumar V, Zhernakova A, Wijmenga C, Franke L, Bouma G; Dutch Autoimmune Hepatitis Study Group; LifeLines Cohort Study; Study of Health in Pomerania.

Gastroenterology. 2014 Aug;147(2):443-52.e5. doi: 10.1053/j.gastro.2014.04.022. Epub 2014 Apr 23.

PMID:
24768677
7.

Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.

Goris A, Pauwels I, Gustavsen MW, van Son B, Hilven K, Bos SD, Celius EG, Berg-Hansen P, Aarseth J, Myhr KM, D'Alfonso S, Barizzone N, Leone MA, Martinelli Boneschi F, Sorosina M, Liberatore G, Kockum I, Olsson T, Hillert J, Alfredsson L, Bedri SK, Hemmer B, Buck D, Berthele A, Knier B, Biberacher V, van Pesch V, Sindic C, Bang Oturai A, Søndergaard HB, Sellebjerg F, Jensen PE, Comabella M, Montalban X, Pérez-Boza J, Malhotra S, Lechner-Scott J, Broadley S, Slee M, Taylor B, Kermode AG, Gourraud PA; International Multiple Sclerosis Genetics Consortium, Sawcer SJ, Andreassen BK, Dubois B, Harbo HF.

Brain. 2015 Mar;138(Pt 3):632-43. doi: 10.1093/brain/awu405. Epub 2015 Jan 22.

8.

Rare mutations associating with serum creatinine and chronic kidney disease.

Sveinbjornsson G, Mikaelsdottir E, Palsson R, Indridason OS, Holm H, Jonasdottir A, Helgason A, Sigurdsson S, Jonasdottir A, Sigurdsson A, Eyjolfsson GI, Sigurdardottir O, Magnusson OT, Kong A, Masson G, Sulem P, Olafsson I, Thorsteinsdottir U, Gudbjartsson DF, Stefansson K.

Hum Mol Genet. 2014 Dec 20;23(25):6935-43. doi: 10.1093/hmg/ddu399. Epub 2014 Jul 31.

PMID:
25082825
9.

Burden of genetic risk variants in multiple sclerosis families in the Netherlands.

Mescheriakova JY, Broer L, Wahedi S, Uitterlinden AG, van Duijn CM, Hintzen RQ.

Mult Scler J Exp Transl Clin. 2016 May 6;2:2055217316648721. doi: 10.1177/2055217316648721. eCollection 2016 Jan-Dec.

10.

Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis.

Hirschfield GM, Liu X, Han Y, Gorlov IP, Lu Y, Xu C, Lu Y, Chen W, Juran BD, Coltescu C, Mason AL, Milkiewicz P, Myers RP, Odin JA, Luketic VA, Speiciene D, Vincent C, Levy C, Gregersen PK, Zhang J, Heathcote EJ, Lazaridis KN, Amos CI, Siminovitch KA.

Nat Genet. 2010 Aug;42(8):655-7. doi: 10.1038/ng.631. Epub 2010 Jul 18.

11.

Oligoclonal bands and age at onset correlate with genetic risk score in multiple sclerosis.

Harbo HF, Isobe N, Berg-Hansen P, Bos SD, Caillier SJ, Gustavsen MW, Mero IL, Celius EG, Hauser SL, Oksenberg JR, Gourraud PA.

Mult Scler. 2014 May;20(6):660-8. doi: 10.1177/1352458513506503. Epub 2013 Oct 7.

12.

Association Between MTHFR Genetic Variants and Multiple Sclerosis in a Southern Iranian Population.

Naghibalhossaini F, Ehyakonandeh H, Nikseresht A, Kamali E.

Int J Mol Cell Med. 2015 Spring;4(2):87-93.

13.

Primary biliary cirrhosis in a patient with multiple sclerosis.

Taub WH, Lederman RJ, Tuthill RJ, Falk GW.

Am J Gastroenterol. 1989 Apr;84(4):415-7.

PMID:
2929564
14.

Keratin variants are overrepresented in primary biliary cirrhosis and associate with disease severity.

Zhong B, Strnad P, Selmi C, Invernizzi P, Tao GZ, Caleffi A, Chen M, Bianchi I, Podda M, Pietrangelo A, Gershwin ME, Omary MB.

Hepatology. 2009 Aug;50(2):546-54. doi: 10.1002/hep.23041.

15.

Genome-wide significant association with seven novel multiple sclerosis risk loci.

Lill CM, Luessi F, Alcina A, Sokolova EA, Ugidos N, de la Hera B, Guillot-Noël L, Malhotra S, Reinthaler E, Schjeide BM, Mescheriakova JY, Mashychev A, Wohlers I, Akkad DA, Aktas O, Alloza I, Antigüedad A, Arroyo R, Astobiza I, Blaschke P, Boyko AN, Buttmann M, Chan A, Dörner T, Epplen JT, Favorova OO, Fedetz M, Fernández O, García-Martínez A, Gerdes LA, Graetz C, Hartung HP, Hoffjan S, Izquierdo G, Korobko DS, Kroner A, Kubisch C, Kümpfel T, Leyva L, Lohse P, Malkova NA, Montalban X, Popova EV, Rieckmann P, Rozhdestvenskii AS, Schmied C, Smagina IV, Tsareva EY, Winkelmann A, Zettl UK, Binder H, Cournu-Rebeix I, Hintzen R, Zimprich A, Comabella M, Fontaine B, Urcelay E, Vandenbroeck K, Filipenko M, Matesanz F, Zipp F, Bertram L.

J Med Genet. 2015 Dec;52(12):848-55. doi: 10.1136/jmedgenet-2015-103442. Epub 2015 Oct 16.

PMID:
26475045
16.

Clustering of autoimmune diseases in families with a high-risk for multiple sclerosis: a descriptive study.

Barcellos LF, Kamdar BB, Ramsay PP, DeLoa C, Lincoln RR, Caillier S, Schmidt S, Haines JL, Pericak-Vance MA, Oksenberg JR, Hauser SL.

Lancet Neurol. 2006 Nov;5(11):924-31.

PMID:
17052659
17.

Influence of TYK2 in systemic sclerosis susceptibility: a new locus in the IL-12 pathway.

López-Isac E, Campillo-Davo D, Bossini-Castillo L, Guerra SG, Assassi S, Simeón CP, Carreira P, Ortego-Centeno N, García de la Peña P; Spanish Scleroderma Group, Beretta L, Santaniello A, Bellocchi C, Lunardi C, Moroncini G, Gabrielli A, Riemekasten G, Witte T, Hunzelmann N, Kreuter A, Distler JH, Voskuyl AE, de Vries-Bouwstra J, Herrick A, Worthington J, Denton CP, Fonseca C, Radstake TR, Mayes MD, Martín J.

Ann Rheum Dis. 2016 Aug;75(8):1521-6. doi: 10.1136/annrheumdis-2015-208154. Epub 2015 Sep 2.

18.

Aggregation of multiple sclerosis genetic risk variants in multiple and single case families.

Gourraud PA, McElroy JP, Caillier SJ, Johnson BA, Santaniello A, Hauser SL, Oksenberg JR.

Ann Neurol. 2011 Jan;69(1):65-74. doi: 10.1002/ana.22323.

19.

A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis.

Mero IL, Lorentzen AR, Ban M, Smestad C, Celius EG, Aarseth JH, Myhr KM, Link J, Hillert J, Olsson T, Kockum I, Masterman T, Oturai AB, Søndergaard HB, Sellebjerg F, Saarela J, Kemppinen A, Elovaara I, Spurkland A, Dudbridge F, Lie BA, Harbo HF.

Eur J Hum Genet. 2010 Apr;18(4):502-4. doi: 10.1038/ejhg.2009.195. Epub 2009 Nov 4.

20.

The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share.

Kottyan LC, Zoller EE, Bene J, Lu X, Kelly JA, Rupert AM, Lessard CJ, Vaughn SE, Marion M, Weirauch MT, Namjou B, Adler A, Rasmussen A, Glenn S, Montgomery CG, Hirschfield GM, Xie G, Coltescu C, Amos C, Li H, Ice JA, Nath SK, Mariette X, Bowman S; UK Primary Sjögren's Syndrome Registry, Rischmueller M, Lester S, Brun JG, Gøransson LG, Harboe E, Omdal R, Cunninghame-Graham DS, Vyse T, Miceli-Richard C, Brennan MT, Lessard JA, Wahren-Herlenius M, Kvarnström M, Illei GG, Witte T, Jonsson R, Eriksson P, Nordmark G, Ng WF; UK Primary Sjögren's Syndrome Registry, Anaya JM, Rhodus NL, Segal BM, Merrill JT, James JA, Guthridge JM, Scofield RH, Alarcon-Riquelme M, Bae SC, Boackle SA, Criswell LA, Gilkeson G, Kamen DL, Jacob CO, Kimberly R, Brown E, Edberg J, Alarcón GS, Reveille JD, Vilá LM, Petri M, Ramsey-Goldman R, Freedman BI, Niewold T, Stevens AM, Tsao BP, Ying J, Mayes MD, Gorlova OY, Wakeland W, Radstake T, Martin E, Martin J, Siminovitch K, Moser Sivils KL, Gaffney PM, Langefeld CD, Harley JB, Kaufman KM.

Hum Mol Genet. 2015 Jan 15;24(2):582-96. doi: 10.1093/hmg/ddu455. Epub 2014 Sep 8.

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