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Titolo:
Results from a genome-wide search for predisposing genes in sarcoidosis
Autore:
Schurmann, M; Reichel, P; Muller-Myhsok, B; Schlaak, M; Muller-Quernheim, J; Schwinger, E;
Indirizzi:
Med Univ Lubeck, Inst Human Genet, Sch Med, D-23538 Lubeck, Germany Med Univ Lubeck Lubeck Germany D-23538 Sch Med, D-23538 Lubeck, Germany Bernhard Nocht Inst Trop Med, Hamburg, Germany Bernhard Nocht Inst Trop Med Hamburg Germany Trop Med, Hamburg, Germany Hosp Med, Res Ctr Borstel, Borstel, Germany Hosp Med Borstel GermanyHosp Med, Res Ctr Borstel, Borstel, Germany
Titolo Testata:
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
fascicolo: 5, volume: 164, anno: 2001,
pagine: 840 - 846
SICI:
1073-449X(20010901)164:5<840:RFAGSF>2.0.ZU;2-I
Fonte:
ISI
Lingua:
ENG
Soggetto:
T-CELL RECEPTOR; INFLAMMATORY BOWEL-DISEASE; LINKAGE ANALYSIS; PULMONARY SARCOIDOSIS; SUSCEPTIBILITY LOCI; AFRICAN-AMERICANS; RISK FACTOR; POLYMORPHISMS; IDENTIFICATION; CHROMOSOME-16;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
38
Recensione:
Indirizzi per estratti:
Indirizzo: Schurmann, M Med Univ Lubeck, Inst Human Genet, Sch Med, D-23538 Lubeck, Germany Med Univ Lubeck Lubeck Germany D-23538 3538 Lubeck, Germany
Citazione:
M. Schurmann et al., "Results from a genome-wide search for predisposing genes in sarcoidosis", AM J R CRIT, 164(5), 2001, pp. 840-846

Abstract

Sarcoidosis is a systemic disease of granulomatous inflammation and unknown etiology. An inherited predisposition is involved, and many candidate susceptibility genes have been tested in association studies. We have applied the more general strategy of genome-wide microsatellite linkage analysis toidentify chromosomal regions that contribute to the risk of sarcoidosis. On the basis of 225 microsatellite markers tested in 63 families with affected siblings (138 patients) and multipoint nonparametric linkage (NPL) analysis, we found the most prominent peak (six adjacent markers including D6S1666; NPL score = 2.99; p = 0.001) at the major histocompatibility complex (MHC). Six minor peaks (p < 0.05) were found on chromosomes 1 (D1S1665), 3 (D3S1766), 7 (D7S821 and D7S3070), 9 (D9S934), and the X chromosome (DXS6789). A subset of nine families with more than two affected siblings (30 patients) contributed little to the peak at the MHC (D6S1666, NPL score = 0.79; p= 0.21). Our results point to locus heterogeneity of susceptibility to sarcoidosis, with a major effect of the MHC.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/04/20 alle ore 21:34:44