Fine mapping of the PSORS4 psoriasis susceptibility region on chromosome 1q21. 2001

F Capon, and S Semprini, and S Chimenti, and G Fabrizi, and G Zambruno, and S Murgia, and C Carcassi, and M Fazio, and R Mingarelli, and B Dallapiccola, and G Novelli
Department of Biopathology, "Tor Vergata" University of Rome, Italy.

Psoriasis is a chronic skin disorder affecting approximately 2% of the Caucasian population. Family clustering of the disease is well established and nonparametric linkage analyzes have mapped disease susceptibility loci on chromosomes 6p (PSORS1) and 17q (PSORS2). Nonconfirmed evidence for linkage is also available for chromosomes 2q 3q, 4q (PSORS3), 8q, 16q, and 20p. We mapped an additional susceptibility locus on chromosome 1q21 (PSORS4). In this study, we have carried out a linkage disequilibrium analysis, in order to achieve a finer localization. We recruited 79 triads from continental Italy and typed them at five loci spanning the 1.6 Mb region generating the highest multipoint LOD scores in our previous linkage study. We observed significant evidence for association with D1S2346 marker (p = 0.004). Results consistent with this data were obtained by typing an independent sample that included 28 patients and 56 controls, originating from Sardinia. In fact, p values of 0.02 were observed with both D1S2346 and D1S2715 markers. We sought further confirmation of our results by typing both samples with two novel markers (140J1C and 140J1D) flanking D1S2346. Marker 140J1D generated a p value of 0.003 in the continental Italy sample where a D1S2346/140J1D haplotype was found with a higher frequency among patients' chromosomes. Altogether our data indicate that the 1q21 susceptibility gene may be localized in the genomic interval spanned by D1S2346 and 140J1D. This report provides evidence supporting the refinement of a non-HLA psoriasis susceptibility locus.

UI MeSH Term Description Entries
D007558 Italy A country in southern Europe, a peninsula extending into the central Mediterranean Sea, northeast of Tunisia. The capital is Rome. Sardinia
D008040 Genetic Linkage The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. Genetic Linkage Analysis,Linkage, Genetic,Analyses, Genetic Linkage,Analysis, Genetic Linkage,Genetic Linkage Analyses,Linkage Analyses, Genetic,Linkage Analysis, Genetic
D008126 Lod Score The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds." Lod Scores,Score, Lod,Scores, Lod
D011565 Psoriasis A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis. Palmoplantaris Pustulosis,Pustular Psoriasis of Palms and Soles,Pustulosis Palmaris et Plantaris,Pustulosis of Palms and Soles,Psoriases
D012016 Reference Values The range or frequency distribution of a measurement in a population (of organisms, organs or things) that has not been selected for the presence of disease or abnormality. Normal Range,Normal Values,Reference Ranges,Normal Ranges,Normal Value,Range, Normal,Range, Reference,Ranges, Normal,Ranges, Reference,Reference Range,Reference Value,Value, Normal,Value, Reference,Values, Normal,Values, Reference
D002874 Chromosome Mapping Any method used for determining the location of and relative distances between genes on a chromosome. Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage
D002878 Chromosomes, Human, Pair 1 A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification. Chromosome 1
D005787 Gene Frequency The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION. Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies
D005819 Genetic Markers A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event. Chromosome Markers,DNA Markers,Markers, DNA,Markers, Genetic,Genetic Marker,Marker, Genetic,Chromosome Marker,DNA Marker,Marker, Chromosome,Marker, DNA,Markers, Chromosome
D006239 Haplotypes The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. Haplotype

Related Publications

F Capon, and S Semprini, and S Chimenti, and G Fabrizi, and G Zambruno, and S Murgia, and C Carcassi, and M Fazio, and R Mingarelli, and B Dallapiccola, and G Novelli
January 2006, Human heredity,
F Capon, and S Semprini, and S Chimenti, and G Fabrizi, and G Zambruno, and S Murgia, and C Carcassi, and M Fazio, and R Mingarelli, and B Dallapiccola, and G Novelli
June 2015, European journal of human genetics : EJHG,
F Capon, and S Semprini, and S Chimenti, and G Fabrizi, and G Zambruno, and S Murgia, and C Carcassi, and M Fazio, and R Mingarelli, and B Dallapiccola, and G Novelli
January 2002, Human heredity,
F Capon, and S Semprini, and S Chimenti, and G Fabrizi, and G Zambruno, and S Murgia, and C Carcassi, and M Fazio, and R Mingarelli, and B Dallapiccola, and G Novelli
August 1998, American journal of human genetics,
F Capon, and S Semprini, and S Chimenti, and G Fabrizi, and G Zambruno, and S Murgia, and C Carcassi, and M Fazio, and R Mingarelli, and B Dallapiccola, and G Novelli
January 1996, Immunogenetics,
F Capon, and S Semprini, and S Chimenti, and G Fabrizi, and G Zambruno, and S Murgia, and C Carcassi, and M Fazio, and R Mingarelli, and B Dallapiccola, and G Novelli
March 2008, Annals of human genetics,
F Capon, and S Semprini, and S Chimenti, and G Fabrizi, and G Zambruno, and S Murgia, and C Carcassi, and M Fazio, and R Mingarelli, and B Dallapiccola, and G Novelli
February 2008, Functional & integrative genomics,
F Capon, and S Semprini, and S Chimenti, and G Fabrizi, and G Zambruno, and S Murgia, and C Carcassi, and M Fazio, and R Mingarelli, and B Dallapiccola, and G Novelli
September 2016, Oncotarget,
F Capon, and S Semprini, and S Chimenti, and G Fabrizi, and G Zambruno, and S Murgia, and C Carcassi, and M Fazio, and R Mingarelli, and B Dallapiccola, and G Novelli
September 2004, The Journal of veterinary medical science,
F Capon, and S Semprini, and S Chimenti, and G Fabrizi, and G Zambruno, and S Murgia, and C Carcassi, and M Fazio, and R Mingarelli, and B Dallapiccola, and G Novelli
June 1995, Nature genetics,
Copied contents to your clipboard!