Genome-wide linkage scan for psoriasis susceptibility loci in multiplex Tunisian families

Summary Background  Psoriasis is a relapsing chronic inflammatory skin disease affecting all population groups, with a peak prevalence of 3% in northern European and Scandinavian caucasians. Epidemiological studies have implicated a genetic component to psoriasis. In the past 12 years multiple genom...

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Bibliographic Details
Published in:British journal of dermatology (1951) 2013-03, Vol.168 (3), p.583-587
Main Authors: Ammar, M., Bouchlaka-Souissi, C., Helms, C.A., Zaraa, I., Jordan, C.T., Anbunathan, H., Bouhaha, R., Kouidhi, S., Doss, N., Dhaoui, R., Ben Osman, A., Ben Ammar El Gaied, A., Marrakchi, R., Mokni, M., Bowcock, A.M.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Biological and medical sciences
Child
Chromosomes, Human, Pair 2 - genetics
Dermatology
Female
Genetic Linkage - genetics
Genetic Predisposition to Disease - genetics
Genome, Human - genetics
Genome-Wide Association Study
Genotype
Humans
Male
Medical sciences
Middle Aged
Pedigree
Polymorphism, Single Nucleotide - genetics
Proteins - genetics
Psoriasis - genetics
Psoriasis. Parapsoriasis. Lichen
Tunisia
Young Adult
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Summary:Summary Background  Psoriasis is a relapsing chronic inflammatory skin disease affecting all population groups, with a peak prevalence of 3% in northern European and Scandinavian caucasians. Epidemiological studies have implicated a genetic component to psoriasis. In the past 12 years multiple genome‐wide linkage analyses have identified putative susceptibility loci on several chromosomes, with a major locus in the major histocompatibility complex region. Objectives  To investigate the genetic basis of familial psoriasis in the Tunisian population using a genome‐wide linkage scan in seven multiplex psoriatic families from Tunisia. Methods  Following single nucleotide polymorphism (SNP) genotyping on the Affymetrix 10K SNP array, we performed nonparametric linkage (NPL) multipoint analyses to identify genotypes and obtain evidence for linkage with psoriasis across the genome. Results  No chromosomal region gave consistent evidence for linkage, providing evidence for genetic heterogeneity in Tunisian psoriasis families. Significant evidence for linkage of psoriasis to chromosome 2p12 was seen in one family. We also identified several regions of tentative psoriasis linkage on chromosomes 2q, 4q, 6p, 11q, 12q, 9q and 13q. One family exhibiting suggestive evidence for linkage to 17q25 (PSORS2) was identified and all affected members harboured a p.Gly117Ser mutation in CARD14 (caspase recruitment domain family, member 14), recently reported to lead to psoriasis in a large family from the U.S.A. Conclusions  Our results support the genetic heterogeneity of psoriasis in the Tunisian population, provide confirmatory evidence for a novel psoriasis locus at chromosome 2p12 and reveal a psoriasis family with a mutation at PSORS2. What’s already known about this topic? •  Twin and family studies point to a strong genetic component in psoriasis. •  During the past 12 years, several independent genome wide association and linkage studies have been carried out in different populations, leading to the localization of many predisposition loci in multiple chromosomal regions. In all studies the major histocompatibility locus at 6p21 is consistently identified, but other loci are not replicated in all studies. What does this study add? •  This study investigates the genetic basis of familial psoriasis in the Tunisian population. It provides evidence for genetic heterogeneity of psoriasis in this population. Significant evidence for linkage of psoriasis to chromosome 2p12 was
ISSN:0007-0963
1365-2133
DOI:10.1111/bjd.12050