HLA genes in familial psoriasis vulgaris (PV): Evidence for genetic heterogeneity

Fernandez-Viña, M.A.; Tomfohrde, J.; Silverman, Ann L.; Barnes, Randall B.; Sang, Shushan; Young, Melodie; Morris, Lisa; Wuepper, Kirk D.; Menter, Alan; Bowcock, Anne M.; Šťastný, Peter

doi:10.1016/0198-8859(94)91725-6

Human Immunology

1994

DOI: 10.1016/0198-8859(94)91725-6

|View full text |Cite

HLA genes in familial psoriasis vulgaris (PV): Evidence for genetic heterogeneity

M.A. Fernandez-Viña¹,

J. Tomfohrde²,

Ann L. Silverman³

et al.

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...

Citation Types

Supporting

Mentioning

Contrasting

Year Published

1998

2005

Publication Types

Select...

Article4

Relationship

Self Cite0

Independent4

Authors

Journals

Cited by 4 publications

(1 citation statement)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In larger families, linkage is not always detectable (Lin 1991;Tomfohrde et al 1994). We have shown that this can be due to the presence of highly penetrant alleles at other loci or the presence of different HLA-Cw*0602 haplotypes in affected members of the same family (Fernandez-Vina et al 1995).…”

mentioning

confidence: 87%

Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR

et al. 2005

View full text Add to dashboard Cite

Psoriasis is a complex inflammatory disease of the skin affecting 1-2% of the Caucasian population. Associations with alleles from the HLA class I region (now known as PSORS1), particularly HLA-Cw*0602, were described over 20 years ago. However, extensive linkage disequilibrium (LD) within this region has made it difficult to identify the true susceptibility allele from this region. A variety of genes and regions from a 238-kb interval extending from HLA-B to corneodesmosin (CDSN) have been proposed to harbor PSORS1. In order to identify the minimum block of LD in the MHC class I region associated with psoriasis we performed a comprehensive case/control and family-based association study on 242 Northern European psoriasis families and two separate European control populations. High resolution HLA typing of HLA-A, -B and -C alleles was performed, in addition to the genotyping of 18 polymorphic microsatellites and 36 SNPs from a 772-kb segment of the HLA class I region harboring the previously described interval. This corresponded on average to one SNP every 7 kb in the candidate 238 kb region. With all tests, the association was the strongest with single markers and haplotypes from a block of LD harboring HLA-C and SNP n.9. Logistic regression analyses indicated that association seen with candidate genes from the interval such as CDSN and HCR was entirely dependent on association with HLA-Cw*0602 and SNP n.9-G alleles. The previously reported association with CDSN and HCR was observed to be due to the existence of the associated alleles lying on the most commonly over-transmitted haplotype. Rare over-transmitted haplotypes also harbored HLA-Cw*12 alleles. HLA-Cw*12 family members are closely related to HLA Cw*0602, sharing identical sequences in their alpha-2 domains, peptide-binding pockets A, D and E and all 3' introns. The introduction of a potential binding site for the RUNX/AML family of transcription factors in intron 7, is also specific to these HLA-C alleles. These variants need to be investigated further for their role as PSORS1.

show abstract

mentioning

confidence: 87%

Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR

et al. 2005

View full text Add to dashboard Cite

show abstract

Genetics of psoriasis: the potential impact on new therapies

Bowcock

Barker

2003

Journal of the American Academy of Dermatology

View full text Add to dashboard Cite

Insights into psoriasis and other inflammatory diseases from large-scale gene expression studies

Bowcock

Shannon

et al. 2001

Human Molecular Genetics

241

199

View full text Add to dashboard Cite

Approximately 2% of the Caucasian population is affected by psoriasis (PS); a chronic inflammatory skin disease triggered by both genetic and environmental risk factors. In addition to a major contribution from the HLA class I region, PS susceptibility loci have been mapped to a number of regions including 1q21, 3q21, 4qter, 14q31-q32, 17q24-q25, 19p13.3 and 20p. Some of these overlap with loci implicated in other autoimmune/inflammatory diseases. Global gene expression studies are beginning to provide insights into the etiology of these and other complex diseases. We used Affymetrix oligonucleotide arrays comprising approximately 12 000 known genes to initiate a more comprehensive analysis of the transcriptional changes that occur in involved and uninvolved skin of 15 psoriatic patients versus six normal controls. Expression levels of the transcripts detected on the arrays were first used to determine the relationship of samples to each other using hierarchical clustering. This analysis clearly differentiated involved psoriatic skin from uninvolved and normal skin. Clusters of differentially expressed genes with similar expression patterns in the same samples were then identified. Six out of 32 clusters contained a total of 177 transcripts that were differentially expressed in involved psoriatic skin versus normal skin. These differences were independent of the gender, age, skin site and HLA class I status of the patient. Ten of the 177 genes were also differentially expressed in uninvolved skin, and several mapped to regions previously shown to harbor psoriasis susceptibility loci.

show abstract

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

customersupport@researchsolutions.com

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Made with 💙 for researchers

Part of the Research Solutions Family.

HLA genes in familial psoriasis vulgaris (PV): Evidence for genetic heterogeneity

Cited by 4 publications

References 0 publications

Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR

Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR

Genetics of psoriasis: the potential impact on new therapies

Insights into psoriasis and other inflammatory diseases from large-scale gene expression studies

Contact Info

Product

Resources

About