Navigation Links
Scientists uncover new genetic variations linked to psoriasis
Date:1/26/2009

Two international teams of researchers have made significant gains in understanding the genetic basis of psoriasis, a chronic skin condition that can be debilitating in some patients. Their research, involving thousands of patients, is reported in two studies published this week in the advance online Nature Genetics.

"Taken together, the studies help us get closer to realizing the promise of personalized medicine," says a senior author of both papers, Anne Bowcock, Ph.D., professor of genetics at Washington University School of Medicine in St. Louis. "Eventually, we hope to be able target treatments to psoriasis patients based on the genetic alterations that have contributed to their disease."

The researchers found a number of new genetic variants that affect an individual's risk of psoriasis. Their discoveries point to different biological pathways that underlie the disease and may eventually lead to targeted drugs and treatments that hit specific pathways, Bowcock says.

An estimated 7 million Americans have psoriasis, an autoimmune disease that occurs when the body's immune cells mistakenly attack the skin. The condition is usually characterized by red, scaly skin patches that can be itchy, painful or both. Some 10 to 30 percent of patients with psoriasis develop psoriatic arthritis, which occurs when inflammation attacks the joints, causing pain and disability.

Both of the new studies looked for common variants in the genomes of psoriasis patients to uncover associations with the disease.

The first study, conducted in collaboration with the University of Michigan, the University of Utah and colleagues in Canada and Europe, focused on sites within the genome where a single unit of DNA is changed, called a single nucleotide polymorphism (SNP). The researchers scanned nearly 450,000 SNPs in each of the genomes of 1,409 psoriasis patients and compared the DNA variations to those in 1,436 healthy controls.

They initially discovered 21 suspect variants associated with psoriasis. Going one step further, the investigators tested the validity of these variants in another group of 5,048 psoriasis patients and 5,041 controls. This revealed a shorter list of confirmed variants seven all of which appear to increase the risk of the disease. Five of the variants cluster in two distinct pathways that involve the signaling molecules IL-23 and NF-kappaB.

A second study of 2,831 patients with psoriasis looked for links between the disease and copy number variations, in which a gene is produced in multiple copies. Bowcock and her colleagues in Barcelona, Spain and elsewhere found that the absence of two skin genes LCE3B and LCE3C increases the risk of psoriasis.

Both genes normally are activated after an injury to the skin. The researches suspect the absence of the genes could lead to an inappropriate immune response, which may cause the inflammation that is a hallmark of the disease.

"Until now, all of the genes linked to psoriasis have been involved in the immune system," Bowcock says. "But psoriasis is a disease of the immune system and the skin, and it makes sense that we would eventually find genes in the skin that are involved in the disease."

The new variants uncovered by the researchers each make only a small contribution to the overall genetic risk of the psoriasis. Patients usually have a number of different genetic variations that increase their risk of the disease.

Also, Bowcock noted that some of the newly discovered variants have been associated with other inflammatory diseases such as Crohn's disease and autoimmune diseases like rheumatoid arthritis and lupus. Additional studies will help to tease apart the ways in which these diseases are connected at the level of DNA. This information will also aid in the search for more targeted drugs that can zero in on particular genetic defects that cause the diseases.


'/>"/>

Contact: Caroline Arbanas
carbanas@aol.com
314-286-0109
Washington University School of Medicine
Source:Eurekalert

Related biology news :

1. 3 new informatics pilot projects to aid clinical and translational scientists nationwide
2. Scientists identify bacteria that increase plant growth
3. Scientists use lasers to measure changes to tropical forests
4. Scientists unlock possible aging secret in genetically altered fruit fly
5. Jefferson scientists discover a key protein regulator of inflammation and cell death
6. MUHC and McGill scientists explain genetic disease first discovered in Quebec 24 years ago
7. Scientists uncover evolutionary keys to common birth disorders
8. Invasive plants challenge scientists in face of environmental change
9. Key to future medical breakthroughs is systems biology, say leading European scientists
10. Scripps scientists develop first examples of RNA that replicates itself indefinitely
11. Florida professor creates endowment for insect scientists
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/3/2016)... LONDON , June 3, 2016 /PRNewswire/ ... Transport Management) von Nepal ... ,Angebot und Lieferung hochsicherer geprägter Kennzeichen, einschließlich ... weltweit führend in der Produktion und Implementierung ... an der Ausschreibung im Januar teilgenommen, aber ...
(Date:6/2/2016)... June 2, 2016   The Weather Company , an ... Ads, an industry-first capability in which consumers will be able ... to ask questions via voice or text and receive relevant ... Marketers have long sought an advertising solution ... can be personal, relevant and valuable; and can scale across ...
(Date:6/1/2016)... 1, 2016 Favorable Government Initiatives ... and Criminal Identification to Boost Global Biometrics System Market ... TechSci Research report, " Global Biometrics Market By ... and Opportunities, 2011 - 2021", the global biometrics market ... on account of growing security concerns across various end ...
Breaking Biology News(10 mins):
(Date:6/23/2016)... June 23, 2016 Apellis Pharmaceuticals, Inc. ... clinical trials of its complement C3 inhibitor, APL-2. ... multiple ascending dose studies designed to assess the ... subcutaneous injection in healthy adult volunteers. ... as a single dose (ranging from 45 to ...
(Date:6/23/2016)... YORK , June 23, 2016 ... trading session at 4,833.32, down 0.22%; the Dow Jones Industrial ... S&P 500 closed at 2,085.45, down 0.17%. Stock-Callers.com has initiated ... INFI ), Nektar Therapeutics (NASDAQ: NKTR ), ... Therapeutics Inc. (NASDAQ: BIND ). Learn more about ...
(Date:6/23/2016)... ... June 23, 2016 , ... Velocity Products, a division ... tuned and optimized exclusively for Okuma CNC machining centers at The International Manufacturing ... collaboration among several companies with expertise in toolholding, cutting tools, machining dynamics and ...
(Date:6/22/2016)... 2016 Cell Applications, Inc. and StemoniX ... produce up to one billion human induced pluripotent ... week. These high-quality, consistent stem cells enable researchers ... spend more time doing meaningful, relevant research. This ... manufacturing process that produces affordable, reliable HiPSC for ...
Breaking Biology Technology: