About My Health Careers Internship MedBlogs Contact us
Medindia LOGIN REGISTER
Advertisement

Contribution of Coding Variants to Psoriasis Much Smaller Than Assumed

by Bidita Debnath on November 11, 2013 at 11:50 PM
Font : A-A+

 Contribution of Coding Variants to Psoriasis Much Smaller Than Assumed

A new study led by Anhui Medical University and BGI suggests that coding variants in immune disease-related genes play only a small part in the overall genetic risk for psoriasis.

This conclusion is strongly supported by their investigation on the contribution of functional coding variants to psoriasis in 21,309 Chinese individuals. In such a large-scale investigation, researchers only discovered two independent low-frequency variants with moderate effect on disease risk. The latest study was published online in Nature Genetics.

Advertisement

Psoriasis is a complex, chronic, lifelong skin disease. It typically first strikes people between the ages of 15 to 35, but can affect anyone at any age, including children. This terrible disease is the results of the interaction of multiple factors, such as environment, genetics, and immunology. The rapid and cost-effective sequencing technologies have enabled researchers to dig out numerous risk-associated variants in psoriasis, but the functional coding variants, particularly low-frequency and rare variants, have not been systematically investigated.

In this study, researchers took two-phase to identify coding variants. In the discovery stage, they conducted exome sequencing on 781 patients with psoriasis and 676 people without psoriasis as control. The efforts yielded 518,308 single-nucleotide variants (SNVs). Of these variants, 20.62% were nonsynonymous, and 68.13% were rare.
Advertisement

Considering the limitation of sample size and techniques in the discovery stage, researchers performed 2 independent studies in a large sample of 9,946 patients with psoriasis and 9,906 controls using targeted sequencing. A total of 3.2 Mb of coding DNA surrounding the targeted regions of 1,326 genes (covering 133 SNVs, 622 immune disease-related genes, and some top genes) was captured. They totally identified 82,387 nonsynonymous SNVs, of which 97.07% were rare.

Through further analysis, they discovered two independent missense SNVs in IL23R and GJB2 with low frequency and five common missense SNVs in LCE3D, ERAP1, CARD14 and ZNF816A associated with psoriasis at genome-wide significance. The rare missense SNVs in FUT2 and TARBP1 were also observed with suggestive evidence of association with this disease.

In addition to the SNVs analysis, researchers investigated 622 immune disease-related genes, and the results showed that the coding variants, at least common and low-frequency nonsynonymous variants, have limited independent contribution to psoriasis risk. Taking all the findings together, the study indicated that nonsynonymous SNVs in the 1,326 targeted genes had limited contribution to the overall genetic risk of psoriasis.

Compared with previous work on European population, this research also demonstrated the genetic heterogeneity between European and Chinese populations. The missense variant (rs72474224) in GJB2 seemed to be specific to Chinese individuals, while the one (rs11209026) in IL23R was specific to European individuals. And another common missense variant (rs11652075) in CARD14 showed consistent between European and Chinese samples.

Xin Jin, co-author of this study at BGI, said, "Target sequencing in such a large sample size enables us to investigate full spectrum of variants in these region. Although we did not identify any low-frequency or rare coding variants with strong genetic effect, the data helps us to refine several known GWAS loci and identify some candidate casual variants. It remains to be shown whether limited contribution of rare coding variants will also hold true for other regions outside the target and in other common diseases beyond psoriasis."

Source: Eurekalert
Advertisement

Advertisement
News A-Z
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
News Category
What's New on Medindia
Link between Dietary Intake of Plant-based Essential Fatty Acids and Death Risk
Aspirin may be Harmful When Used for Preventing 1st Heart Attack, Stroke
Pregnancy Complications Elevated Among Symptomatic COVID-19 Women
View all

Medindia Newsletters Subscribe to our Free Newsletters!
Terms & Conditions and Privacy Policy.

More News on:
Psoriasis Dry Skin Symptom Evaluation Foods that are Bad for your Skin Itchy Scalp Diet for Psoriasis Scalp Psoriasis Psoriasis Cure with Homeopathy: Fact or Fiction Psoriatic Arthritis How Do Viruses Mutate and Why Does it Matter? 

Recommended Reading
Psoriasis
Psoriasis is a recurrent and complex inflammatory skin disorder that can have tremendous physical .....
Experts Link Moderate to Severe Psoriasis With Chronic Kidney Disease
Researchers compared the risk of chronic kidney disease in patients with and without psoriasis as .....
Novel Drug to Treat Psoriasis Developed
Biocon has unveiled a new drug to treat psoriasis, a skin disease that occurs when the immune ......
Psoriasis Patients Have High Risk of Suffering from Heart Disease
Researchers at University of Pennsylvania have found that people suffering from psoriasis have a ......
Diet for Psoriasis
Learn what causes psoriasis, the appropriate diet to follow and the importance of diet in the treatm...
Dry Skin Symptom Evaluation
Dry skin a result in inadequate hydration of the skin. This could be either due to a reduced intake...
Foods that are Bad for your Skin
Hydration, sebum formation and skin acidity determine the skin condition. Along with aging and envir...
How Do Viruses Mutate and Why Does it Matter?
Mutations are the sudden changes that occur in genetic materials. They occur as a part of evolution ...
Psoriasis Cure with Homeopathy: Fact or Fiction
Psoriasis, a chronic autoimmune skin disease has phases of exaggeration and remission. Homeopathic r...
Psoriatic Arthritis
Psoriatic arthritis is a kind of autoimmune inflammatory arthritis, which develops in 30 percent of ...
Scalp Psoriasis
Scalp psoriasis, a common skin disorder causes lesions on the scalp. There is no cure for scalp psor...

Disclaimer - All information and content on this site are for information and educational purposes only. The information should not be used for either diagnosis or treatment or both for any health related problem or disease. Always seek the advice of a qualified physician for medical diagnosis and treatment. Full Disclaimer

© All Rights Reserved 1997 - 2021

This site uses cookies to deliver our services. By using our site, you acknowledge that you have read and understand our Cookie Policy, Privacy Policy, and our Terms of Use