Variants in linkage disequilibrium with the late cornified envelope gene cluster deletion are associated with susceptibility to psoriatic arthritis.

Annals of the Rheumatic Diseases
John BowesAnne Barton

Abstract

A common deletion mapping to the psoriasis susceptibility locus 4 on chromosome 1q21, encompassing two genes of the late cornified envelope (LCE) gene cluster, has been associated with an increased risk of psoriasis vulgaris (PsV). One previous report found no association of the deletion with psoriatic arthritis (PsA), suggesting it may be a specific risk factor for PsV. Given the genetic overlap between PsA and PsV, a study was undertaken to investigate whether single nucleotide polymorphisms (SNPs) mapping to this locus are risk factors for PsA in a UK and Irish population. Three SNPs with prior evidence of association with susceptibility to PsV were genotyped in 1057 patients with PsA using Sequenom iPlex chemistry and genotype frequencies compared with data available for 5575 healthy controls. Two of the SNPs, rs4112788 and rs4085613, were reported to be highly correlated with the LCE deletion. The third SNP, rs6701216, was previously reported to be associated with PsV in a US population. Alleles tagging the deletion for both rs4112788 and rs4085613 were found to be enriched in cases compared with controls (69% vs 65%) and significantly associated with increased susceptibility to PsA (p(trend) = 0.001, OR 1.19 and p(trend) ...Continue Reading

References

Dec 1, 1999·American Journal of Human Genetics·F CaponG Novelli
May 15, 2003·Arthritis and Rheumatism·Joanna BaldingOliver FitzGerald
Jul 28, 2006·Arthritis and Rheumatism·William TaylorUNKNOWN CASPAR Study Group
Jun 8, 2007·Nature·UNKNOWN Wellcome Trust Case Control Consortium
Sep 9, 2008·Nature Genetics·Steven A McCarrollDavid Altshuler
Nov 28, 2008·Arthritis and Rheumatism·Charlotte FilerAnne Barton
Feb 3, 2009·Nature Clinical Practice. Rheumatology·Kristine E NogralesAnne M Bowcock
Oct 9, 2009·Nature Medicine·Sarah F FieldJohn A Todd
Dec 18, 2009·The Journal of Investigative Dermatology·Ulrike HüffmeierAndré Reis

❮ Previous
Next ❯

Citations

Aug 29, 2012·Archives of Dermatological Research·Myriam AmmarChiraz Bouchlaka-Souissi
Jan 26, 2012·Clinical Reviews in Allergy & Immunology·Vinod Chandran
Nov 9, 2011·Nature Reviews. Rheumatology·Darren D O'Rielly, Proton Rahman
Apr 11, 2012·Nature Reviews. Rheumatology·John D Reveille
Feb 26, 2011·Annals of the Rheumatic Diseases·John BowesAnne Barton
May 31, 2011·Annals of the Rheumatic Diseases·John BowesAnne Barton
Mar 3, 2012·PloS One·Judith G M BergboerUNKNOWN Nijmegen Biomedical Study principal investigators
Feb 2, 2013·Actas dermo-sifiliográficas·L PuigS Marsal
May 25, 2012·The Journal of Investigative Dermatology·Judith G M BergboerJoost Schalkwijk
Nov 5, 2011·The British Journal of Dermatology·H L HébertR B Warren
Feb 24, 2015·Journal of Genetics and Genomics = Yi Chuan Xue Bao·Changbing ShenXuejun Zhang
Sep 27, 2013·Autoimmune Diseases·Rocío Prieto-PérezFrancisco Abad-Santos
Feb 20, 2014·The Journal of Dermatological Treatment·G GirolomoniC Paul
Jun 9, 2016·Pharmacogenomics·Raffaella CascellaEmiliano Giardina
Apr 28, 2006·American Journal of Human Genetics·Rajan P NairJames T Elder
Nov 22, 2014·Current Opinion in Rheumatology·Lihi EderDafna D Gladman
Feb 26, 2014·Molecular Biology Reports·Bouchlaka Souissi ChirazSellami Slaheddine
Mar 14, 2021·Seminars in Immunopathology·Sara RahmatiVinod Chandran

❮ Previous
Next ❯

Methods Mentioned

BETA
genotyping
PCR

Software Mentioned

PLINK

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.