Advances in the search for Psoriasis susceptibility genes

Francesca Capon, Bruno Dallapiccola, Giuseppe Novelli

Research output: Contribution to journalArticle

Abstract

Psoriasis (PS) is a common skin disorder affecting approximately 2% of the Caucasian population. Despite the established influence of several environmental factors, epidemiological data and twin studies have long demonstrated a genetic basis for psoriasis susceptibility. Moreover an association between PS and HLA-Cw6 has been reported in different ethnic groups. In recent years, the availability of statistical methods for complex disease linkage analysis has prompted many researchers to carry out genome-wide scans. Their results have been conflicting and linkage replication has seldom been documented. However, a few chromosome regions have been confirmed in independent studies. In particular, compelling evidence supports the existence of a susceptibility locus within the HLA region. Moreover, loci on chromosomes 17q and 1q have been reported in at least two independent genome scans. Several groups have undertaken the refinement of regions identified during genome scans, using linkage disequilibrium data. This approach has allowed the fine mapping of the 6p21 locus, now restricted to a 60-kb genomic segment. As critical regions get smaller, candidate gene analysis becomes an attractive approach. So far, three genes have been extensively investigated: S100A7 on chromosome 1q and CDSN and HCR on chromosome 6p21. Even though several SNPs have been identified within these genes, none of them seems to meet the requirement needed to prove an involvement in PS pathogenesis. These criteria include association replication in different populations and functional studies of SNP biological significance. Thus, only a collaborative and multidisciplinary approach will allow the identification of PS susceptibility genes. (C) 2000 Academic Press.

Original languageEnglish
Pages (from-to)250-255
Number of pages6
JournalMolecular Genetics and Metabolism
Volume71
Issue number1-2
DOIs
Publication statusPublished - 2000

Fingerprint

Psoriasis
Genes
Chromosomes
Genome
Single Nucleotide Polymorphism
Twin Studies
Linkage Disequilibrium
Genetic Association Studies
Ethnic Groups
Population
Epidemiologic Studies
Research Personnel
Skin
Statistical methods
Availability

Keywords

  • Complex diseases
  • HLA
  • Psoriasis
  • Susceptibility loci

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Endocrinology, Diabetes and Metabolism

Cite this

Advances in the search for Psoriasis susceptibility genes. / Capon, Francesca; Dallapiccola, Bruno; Novelli, Giuseppe.

In: Molecular Genetics and Metabolism, Vol. 71, No. 1-2, 2000, p. 250-255.

Research output: Contribution to journalArticle

Capon, Francesca ; Dallapiccola, Bruno ; Novelli, Giuseppe. / Advances in the search for Psoriasis susceptibility genes. In: Molecular Genetics and Metabolism. 2000 ; Vol. 71, No. 1-2. pp. 250-255.
@article{8ba9248ea0b4427da7fb3fd44972220b,
title = "Advances in the search for Psoriasis susceptibility genes",
abstract = "Psoriasis (PS) is a common skin disorder affecting approximately 2{\%} of the Caucasian population. Despite the established influence of several environmental factors, epidemiological data and twin studies have long demonstrated a genetic basis for psoriasis susceptibility. Moreover an association between PS and HLA-Cw6 has been reported in different ethnic groups. In recent years, the availability of statistical methods for complex disease linkage analysis has prompted many researchers to carry out genome-wide scans. Their results have been conflicting and linkage replication has seldom been documented. However, a few chromosome regions have been confirmed in independent studies. In particular, compelling evidence supports the existence of a susceptibility locus within the HLA region. Moreover, loci on chromosomes 17q and 1q have been reported in at least two independent genome scans. Several groups have undertaken the refinement of regions identified during genome scans, using linkage disequilibrium data. This approach has allowed the fine mapping of the 6p21 locus, now restricted to a 60-kb genomic segment. As critical regions get smaller, candidate gene analysis becomes an attractive approach. So far, three genes have been extensively investigated: S100A7 on chromosome 1q and CDSN and HCR on chromosome 6p21. Even though several SNPs have been identified within these genes, none of them seems to meet the requirement needed to prove an involvement in PS pathogenesis. These criteria include association replication in different populations and functional studies of SNP biological significance. Thus, only a collaborative and multidisciplinary approach will allow the identification of PS susceptibility genes. (C) 2000 Academic Press.",
keywords = "Complex diseases, HLA, Psoriasis, Susceptibility loci",
author = "Francesca Capon and Bruno Dallapiccola and Giuseppe Novelli",
year = "2000",
doi = "10.1006/mgme.2000.3031",
language = "English",
volume = "71",
pages = "250--255",
journal = "Molecular Genetics and Metabolism",
issn = "1096-7192",
publisher = "Academic Press Inc.",
number = "1-2",

}

TY - JOUR

T1 - Advances in the search for Psoriasis susceptibility genes

AU - Capon, Francesca

AU - Dallapiccola, Bruno

AU - Novelli, Giuseppe

PY - 2000

Y1 - 2000

N2 - Psoriasis (PS) is a common skin disorder affecting approximately 2% of the Caucasian population. Despite the established influence of several environmental factors, epidemiological data and twin studies have long demonstrated a genetic basis for psoriasis susceptibility. Moreover an association between PS and HLA-Cw6 has been reported in different ethnic groups. In recent years, the availability of statistical methods for complex disease linkage analysis has prompted many researchers to carry out genome-wide scans. Their results have been conflicting and linkage replication has seldom been documented. However, a few chromosome regions have been confirmed in independent studies. In particular, compelling evidence supports the existence of a susceptibility locus within the HLA region. Moreover, loci on chromosomes 17q and 1q have been reported in at least two independent genome scans. Several groups have undertaken the refinement of regions identified during genome scans, using linkage disequilibrium data. This approach has allowed the fine mapping of the 6p21 locus, now restricted to a 60-kb genomic segment. As critical regions get smaller, candidate gene analysis becomes an attractive approach. So far, three genes have been extensively investigated: S100A7 on chromosome 1q and CDSN and HCR on chromosome 6p21. Even though several SNPs have been identified within these genes, none of them seems to meet the requirement needed to prove an involvement in PS pathogenesis. These criteria include association replication in different populations and functional studies of SNP biological significance. Thus, only a collaborative and multidisciplinary approach will allow the identification of PS susceptibility genes. (C) 2000 Academic Press.

AB - Psoriasis (PS) is a common skin disorder affecting approximately 2% of the Caucasian population. Despite the established influence of several environmental factors, epidemiological data and twin studies have long demonstrated a genetic basis for psoriasis susceptibility. Moreover an association between PS and HLA-Cw6 has been reported in different ethnic groups. In recent years, the availability of statistical methods for complex disease linkage analysis has prompted many researchers to carry out genome-wide scans. Their results have been conflicting and linkage replication has seldom been documented. However, a few chromosome regions have been confirmed in independent studies. In particular, compelling evidence supports the existence of a susceptibility locus within the HLA region. Moreover, loci on chromosomes 17q and 1q have been reported in at least two independent genome scans. Several groups have undertaken the refinement of regions identified during genome scans, using linkage disequilibrium data. This approach has allowed the fine mapping of the 6p21 locus, now restricted to a 60-kb genomic segment. As critical regions get smaller, candidate gene analysis becomes an attractive approach. So far, three genes have been extensively investigated: S100A7 on chromosome 1q and CDSN and HCR on chromosome 6p21. Even though several SNPs have been identified within these genes, none of them seems to meet the requirement needed to prove an involvement in PS pathogenesis. These criteria include association replication in different populations and functional studies of SNP biological significance. Thus, only a collaborative and multidisciplinary approach will allow the identification of PS susceptibility genes. (C) 2000 Academic Press.

KW - Complex diseases

KW - HLA

KW - Psoriasis

KW - Susceptibility loci

UR - http://www.scopus.com/inward/record.url?scp=0033814264&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033814264&partnerID=8YFLogxK

U2 - 10.1006/mgme.2000.3031

DO - 10.1006/mgme.2000.3031

M3 - Article

C2 - 11001818

AN - SCOPUS:0033814264

VL - 71

SP - 250

EP - 255

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

SN - 1096-7192

IS - 1-2

ER -