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Titolo:
Evidence for the genetic role of human leukocyte antigens in low frequencyDRBI*1501 multiple sclerosis patients in Israel
Autore:
Karni, A; Kohn, Y; Safirman, C; Abramsky, O; Barcellos, L; Oksenberg, JR; Kahana, E; Karussis, D; Chapman, J; Brautbar, C;
Indirizzi:
Hebrew Univ Jerusalem, Hadassah Univ Hosp, Hadassah Med Sch, Dept Neurol, Jerusalem, Israel Hebrew Univ Jerusalem Jerusalem Israel , Dept Neurol, Jerusalem, Israel Hebrew Univ Jerusalem, Hadassah Univ Hosp, Hadassah Med Sch, Dept Psychiat, Jerusalem, Israel Hebrew Univ Jerusalem Jerusalem Israel Dept Psychiat, Jerusalem, Israel Hebrew Univ Jerusalem, Hadassah Univ Hosp, Hadassah Med Sch, Tissue TypingUnit, Jerusalem, Israel Hebrew Univ Jerusalem Jerusalem Israel ue TypingUnit, Jerusalem, Israel Hebrew Univ Jerusalem, Hadassah Univ Hosp, Hadassah Med Sch, Lautenberg Ctr Gen & Tumor Immunol, Jerusalem, Israel Hebrew Univ Jerusalem Jerusalem Israel Tumor Immunol, Jerusalem, Israel Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94143 USA Univ Calif San Francisco San Francisco CA USA 94143 ancisco, CA 94143 USA Barzilai Med Ctr, Dept Neurol, Ashkelon, Israel Barzilai Med Ctr Ashkelon Israel Med Ctr, Dept Neurol, Ashkelon, Israel Tel Aviv Univ, Sackler Fac Med, Tel Aviv Med Ctr, Dept Neurol, IL-69978 Tel Aviv, Israel Tel Aviv Univ Tel Aviv Israel IL-69978 Neurol, IL-69978 Tel Aviv, Israel
Titolo Testata:
MULTIPLE SCLEROSIS
fascicolo: 6, volume: 5, anno: 1999,
pagine: 410 - 415
SICI:
1352-4585(199912)5:6<410:EFTGRO>2.0.ZU;2-T
Fonte:
ISI
Lingua:
ENG
Soggetto:
LINKAGE ANALYSIS; DIAGNOSTIC-CRITERIA; HUMAN MHC; SUSCEPTIBILITY; FAMILIES; REGION; LOCI; POLYMORPHISMS; ALLELES; MS;
Keywords:
human leukocyte antigens (HLA); major histocompatibility complex (MHC); Multiple Sclerosis (MS); linkage analysis; association study; GENEHUNTER;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
33
Recensione:
Indirizzi per estratti:
Indirizzo: Karni, A Harvard Univ, Inst Med, Ctr Neurol Dis, 77 Louis Pasteur St, Boston, MA 02115 USA Harvard Univ 77 Louis Pasteur St Boston MA USA 02115 MA 02115 USA
Citazione:
A. Karni et al., "Evidence for the genetic role of human leukocyte antigens in low frequencyDRBI*1501 multiple sclerosis patients in Israel", MULT SCLER, 5(6), 1999, pp. 410-415

Abstract

A strong association exists between multiple sclerosis (MS) and the DRBI*1501 haplotype, in most populations. Linkage of Multiple Sclerosis (MS) withthe MHC or HLA region on chromosome 6p21 has previously been observed in DRBI*1501 positive MS families. A group of 13 Israeli multiplex MS families with a very low frequency of DRBI*1501 haplotype were examined in this study. Association and a linkage test were Performed in order to identify a non-DRBI*1501 effect of HLA on susceptibility for MS. MS multiplex families and healthy controls were molecularly typed for six highly polymorphic markers located within the MHC region: DRBI, DQAI and DQBI, BAT-2, MIB and D6S248. Data analyses included: (a) an association study comparing the patient group with both healthy relative, and healthy control groups (b) a transmission test for linkage disequilibrium (TDT) of the MS-associated alleles in the multiplex families, and (c) multipoint non-parametric linkage (NPL) and parametric LOD score analyses using the GENEHUNTER program. The DRBI*1303 allele was significantly more frequent among the MS patients. There was a trend towards transmission disequilibrium of DRBI*1303, but was not statistically significant Allele sharing and LOD score analyses revealed no evidence for linkage. The high frequency of DRBI*1303 observed in our family patients provides evidence to support the association with this allele that previously described in sporadic non-Ashkenazi MS patients. Thus, DRBI*1303 may serve as genetic risk factor for MS. Our study exemplifies the genetic heterogeneity in MS as there is a genetic effect of HLA on MS susceptibility in our low frequency DRBI*1501 patients.

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Documento generato il 11/07/20 alle ore 20:59:13