Featured Research

from universities, journals, and other organizations

Largest genetic sequencing study of human disease

Date:
May 22, 2013
Source:
Queen Mary, University of London
Summary:
Researchers have completed the largest sequencing study of human disease to date, investigating the genetic basis of six autoimmune diseases.

Researchers have completed the largest sequencing study of human disease to date, investigating the genetic basis of six autoimmune diseases.
Credit: Collpicto / Fotolia

Researchers from Queen Mary, University of London have led the largest sequencing study of human disease to date, investigating the genetic basis of six autoimmune diseases.

The exact cause of these diseases -- autoimmune thyroid disease, celiac disease, Crohn's disease, psoriasis, multiple sclerosis and type 1 diabetes- is unknown, but is believed to be a complex combination of genetic and environmental factors. In each disease only a proportion of the heritability is explained by the identified genetic variants. The techniques used to date, have generally identified common (in the population) variants of weak effect.

In this study, using high-throughput sequencing techniques, a global team of scientists sought to identify new variants, including rare and potentially high risk ones, in 25 previously identified risk genes in a sample of nearly 42,000 individuals (24,892 with autoimmune disease and 17,019 controls).

It has been suggested -- in the 'rare-variant synthetic genome-wide association hypothesis' -- that a small number of rare variants in risk genes are likely to be a major cause of the heritability of these conditions. However, the study published today in the journal Nature, suggests that the genetic risk of these diseases more likely involves a complex combination of hundreds of weak-effect variants which are each common in the population.

The authors estimate that rare variants in these risk genes account for only around three per cent of the heritability of these conditions that can be explained by common variants.

David van Heel, Professor of Gastrointestinal Genetics at Barts and The London School of Medicine and Dentistry at Queen Mary and director of the Barts and The London Genome Centre, led the study. He said: "These results suggests that risk for these autoimmune diseases is not due to a few high-risk genetic variations but seems rather due to a random selection from many common genetic variants which each have a weak effect.

"For each disease there are probably hundreds such variants and the genetic risk is likely to come from inheriting a large number of these variants from both parents. If this is the case then it may never be possible to accurately predict an individual's genetic risk of these common autoimmune diseases. However, the results do provide important information about the biological basis of these conditions and the pathways involved, which could lead to the identification new drug targets."

The research utilised high-throughput sequencing techniques performed at the Barts and The London Genome Centre and demonstrated for the first time that the sequencing can call genotypes as accurately as 'gold standard techniques' such as genotyping array platforms. Additional laboratory work was carried out at the Blizard institute at Queen Mary.

Professor Richard Trembath, Vice Principal and Executive Dean for Health at Barts and The London School of Medicine and Dentistry, Queen Mary, and a co-author on the paper said: "The results prompt a re-assessment of the genetic architecture that determines risk for development of common auto-immune disorders and will fuel future careful assessment of regions of the human genome beyond those presently known to confer susceptibility to these important medical conditions."

This study was primarily funded by the Medical Research Council with additional funding from Coeliac UK.


Story Source:

The above story is based on materials provided by Queen Mary, University of London. Note: Materials may be edited for content and length.


Journal Reference:

  1. Karen A. Hunt, Vanisha Mistry, Nicholas A. Bockett, Tariq Ahmad, Maria Ban, Jonathan N. Barker, Jeffrey C. Barrett, Hannah Blackburn, Oliver Brand, Oliver Burren, Francesca Capon, Alastair Compston, Stephen C. L. Gough, Luke Jostins, Yong Kong, James C. Lee, Monkol Lek, Daniel G. MacArthur, John C. Mansfield, Christopher G. Mathew, Charles A. Mein, Muddassar Mirza, Sarah Nutland, Suna Onengut-Gumuscu, Efterpi Papouli, Miles Parkes, Stephen S. Rich, Steven Sawcer, Jack Satsangi, Matthew J. Simmonds, Richard C. Trembath, Neil M. Walker, Eva Wozniak, John A. Todd, Michael A. Simpson, Vincent Plagnol, David A. van Heel. Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature, 2013; DOI: 10.1038/nature12170

Cite This Page:

Queen Mary, University of London. "Largest genetic sequencing study of human disease." ScienceDaily. ScienceDaily, 22 May 2013. <www.sciencedaily.com/releases/2013/05/130522131124.htm>.
Queen Mary, University of London. (2013, May 22). Largest genetic sequencing study of human disease. ScienceDaily. Retrieved July 24, 2014 from www.sciencedaily.com/releases/2013/05/130522131124.htm
Queen Mary, University of London. "Largest genetic sequencing study of human disease." ScienceDaily. www.sciencedaily.com/releases/2013/05/130522131124.htm (accessed July 24, 2014).

Share This




More Health & Medicine News

Thursday, July 24, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

New Painkiller Designed To Discourage Abuse: Will It Work?

New Painkiller Designed To Discourage Abuse: Will It Work?

Newsy (July 24, 2014) The FDA approved Targiniq ER on Wednesday, a painkiller designed to keep users from abusing it. Like any new medication, however, it has doubters. Video provided by Newsy
Powered by NewsLook.com
Doctor At Forefront Of Fighting Ebola Outbreak Gets Ebola

Doctor At Forefront Of Fighting Ebola Outbreak Gets Ebola

Newsy (July 24, 2014) Sheik Umar Khan has treated many of the people infected in the Ebola outbreak, and now he's become one of them. Video provided by Newsy
Powered by NewsLook.com
Condemned Man's US Execution Takes Nearly Two Hours

Condemned Man's US Execution Takes Nearly Two Hours

AFP (July 24, 2014) America's death penalty debate raged Thursday after it took nearly two hours for Arizona to execute a prisoner who lost a Supreme Court battle challenging the experimental lethal drug cocktail. Duration: 00:55 Video provided by AFP
Powered by NewsLook.com
China's Ageing Millions Look Forward to Bleak Future

China's Ageing Millions Look Forward to Bleak Future

AFP (July 24, 2014) China's elderly population is expanding so quickly that children struggle to look after them, pushing them to do something unexpected in Chinese society- move their parents into a nursing home. Duration: 02:07 Video provided by AFP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins