Psoriasis is a chronic inflammatory dermatitis, affecting approximately 2% of the population. Major clinical features include red, scaly patches on scalp, elbows, and knees, with or without severe arthritis. Several putative susceptibility loci have been mapped by parametric and non-parametric linkage analysis to chromosome regions 2p, 4q, 6p, 8q, 16q, 17q, and 20p; however, the most significant results and confirmation of linkage are only available for the 17q and 6p chromosome regions at present. In this study, 22 multiplex Italian families were investigated for linkage to 6p and 17q susceptibility regions, using a set of four microsatellites. These analyses failed to detect significant linkage with any of the examined markers. A genome-wide scan was then performed on one of the largest pedigrees, searching for an additional susceptibility locus. This study disclosed a putative linkage to chromosome 1cen-q21 markers. When these microsatellites were analyzed in the remaining families of the sample, a significant linkage was observed using both parametric and non-parametric methods. The highest two-point lod score value was obtained with D1S305 marker (3.75 at 0 = 0.05). Non-parametric analysis at this locus also demonstrated a significant excess of allele sharing (p = 0.0001).

Capon, F., Novelli, G., Semprini, S., Clementi, M., Nudo, M., Vultaggio, P., et al. (1999). Searching for psoriasis susceptibility genes in Italy: Genome scan and evidence for a new locus on chromosome 1. JOURNAL OF INVESTIGATIVE DERMATOLOGY, 112(1), 32-35 [10.1046/j.1523-1747.1999.00471.x].

Searching for psoriasis susceptibility genes in Italy: Genome scan and evidence for a new locus on chromosome 1

NOVELLI, GIUSEPPE;BOTTA, ANNALISA;
1999-01-01

Abstract

Psoriasis is a chronic inflammatory dermatitis, affecting approximately 2% of the population. Major clinical features include red, scaly patches on scalp, elbows, and knees, with or without severe arthritis. Several putative susceptibility loci have been mapped by parametric and non-parametric linkage analysis to chromosome regions 2p, 4q, 6p, 8q, 16q, 17q, and 20p; however, the most significant results and confirmation of linkage are only available for the 17q and 6p chromosome regions at present. In this study, 22 multiplex Italian families were investigated for linkage to 6p and 17q susceptibility regions, using a set of four microsatellites. These analyses failed to detect significant linkage with any of the examined markers. A genome-wide scan was then performed on one of the largest pedigrees, searching for an additional susceptibility locus. This study disclosed a putative linkage to chromosome 1cen-q21 markers. When these microsatellites were analyzed in the remaining families of the sample, a significant linkage was observed using both parametric and non-parametric methods. The highest two-point lod score value was obtained with D1S305 marker (3.75 at 0 = 0.05). Non-parametric analysis at this locus also demonstrated a significant excess of allele sharing (p = 0.0001).
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/03 - Genetica Medica
Settore MED/35 - Malattie Cutanee e Veneree
English
Female; Genetic Linkage; Haplotypes; Humans; Italy; Male; Psoriasis; Chromosome Mapping; Chromosomes, Human, Pair 1; Genetic Predisposition to Disease
Capon, F., Novelli, G., Semprini, S., Clementi, M., Nudo, M., Vultaggio, P., et al. (1999). Searching for psoriasis susceptibility genes in Italy: Genome scan and evidence for a new locus on chromosome 1. JOURNAL OF INVESTIGATIVE DERMATOLOGY, 112(1), 32-35 [10.1046/j.1523-1747.1999.00471.x].
Capon, F; Novelli, G; Semprini, S; Clementi, M; Nudo, M; Vultaggio, P; Mazzanti, C; Gobello, T; Botta, A; Fabrizi, G; Dallapiccola, B
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/119242
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