Featured Research

from universities, journals, and other organizations

Genetic associations for gastrointestinal condition in infants

Date:
August 20, 2013
Source:
American Medical Association (AMA)
Summary:
Researchers have identified a new genome-wide significant locus (the place a gene occupies on a chromosome) for infantile hypertrophic pyloric stenosis (IHPS), a serious gastrointestinal condition associated with gastrointestinal obstruction, according to a new study. Characteristics of this locus also suggest the possibility of an inverse relationship between levels of circulating cholesterol in neonates and IHPS risk.

Researchers have identified a new genome-wide significant locus (the place a gene occupies on a chromosome) for infantile hypertrophic pyloric stenosis (IHPS), a serious gastrointestinal condition associated with gastrointestinal obstruction, according to a study in the August 21 issue of JAMA. Characteristics of this locus also suggest the possibility of an inverse relationship between levels of circulating cholesterol in neonates and IHPS risk.

"Infantile hypertrophic pyloric stenosis is the leading cause of gastrointestinal obstruction in the first months of life, with an incidence of l to 3 per 1,000 live births in Western countries. It affects 4 to 5 times as many boys as girls and typically presents 2 to 8 weeks after birth with projectile vomiting, weight loss, and dehydration. Although IHPS is a clinically well-defined entity, the etiology [cause] of the condition is complex and remains unclear," according to background information in the article. A genetic predisposition is well established; IHPS aggregates strongly in families and has an estimated heritability of more than 80 percent; but knowledge about specific genetic risk variants is limited.

Bjarke Feenstra, Ph.D., of the Statens Serum Institut, Copenhagen, Denmark, and colleagues conducted a study to search the genome for genetic associations with IHPS and to validate findings in 3 independent sample sets. During stage 1, the researchers used reference data from the 1,000 Genomes Project for imputation into a genome-wide data set of 1,001 Danish surgery-confirmed samples (cases diagnosed 1987-2008) and 2,371 disease-free controls. In stage 2, the 5 most significantly associated loci were tested in independent case-control sample sets from Denmark (cases diagnosed 1983-2010), Sweden (cases diagnosed 1958-2011), and the United States (cases diagnosed 1998-2005), with a total of 1,663 cases and 2,315 controls.

The researchers found a new genome-wide significant locus for IHPS at chromosome 11q23.3 in a region harboring the apolipoprotein (APOA1/C3/A4/A5) gene cluster. APOA1 encodes apolipoprotein A-I, which is the major protein component of high-density lipoprotein (HDL) cholesterol in plasma. "The functional characteristics of the 11q23.3 locus suggest the hypothesis that low levels of circulating lipids in newborns are associated with increased risk of IHPS. We addressed this hypothesis by measuring plasma levels of total, low-density lipoprotein, and HDL cholesterol as well as triglycerides in prospectively collected umbilical cord blood from a set of 46 IHPS cases and 189 controls of Danish ancestry, most of which were also in the discovery sample," the authors write. They found lower cholesterol levels at birth in infants who went on to develop IHPS compared with matched controls who did not develop the disease.

"Further investigation is required to illuminate the functional significance of the association identified here."


Story Source:

The above story is based on materials provided by American Medical Association (AMA). Note: Materials may be edited for content and length.


Cite This Page:

American Medical Association (AMA). "Genetic associations for gastrointestinal condition in infants." ScienceDaily. ScienceDaily, 20 August 2013. <www.sciencedaily.com/releases/2013/08/130820185337.htm>.
American Medical Association (AMA). (2013, August 20). Genetic associations for gastrointestinal condition in infants. ScienceDaily. Retrieved October 19, 2014 from www.sciencedaily.com/releases/2013/08/130820185337.htm
American Medical Association (AMA). "Genetic associations for gastrointestinal condition in infants." ScienceDaily. www.sciencedaily.com/releases/2013/08/130820185337.htm (accessed October 19, 2014).

Share This



More Health & Medicine News

Sunday, October 19, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Microneedle Patch Promises Painless Pricks

Microneedle Patch Promises Painless Pricks

Reuters - Innovations Video Online (Oct. 18, 2014) Researchers at The National University of Singapore have invented a new microneedle patch that could offer a faster and less painful delivery of drugs such as insulin and painkillers. Video provided by Reuters
Powered by NewsLook.com
Raw: Nurse Nina Pham Arrives in Maryland

Raw: Nurse Nina Pham Arrives in Maryland

AP (Oct. 17, 2014) The first nurse to be diagnosed with Ebola at a Dallas hospital walked down the stairs of an executive jet into an ambulance at an airport in Frederick, Maryland, on Thursday. Pham will be treated at the National Institutes of Health. (Oct. 16) Video provided by AP
Powered by NewsLook.com
Raw: Cruise Ship Returns to US Over Ebola Fears

Raw: Cruise Ship Returns to US Over Ebola Fears

AP (Oct. 17, 2014) A Caribbean cruise ship carrying a Dallas health care worker who is being monitored for signs of the Ebola virus is heading back to Texas, US, after being refused permission to dock in Cozumel, Mexico. (Oct. 17) Video provided by AP
Powered by NewsLook.com
Spanish Govt: Four Suspected Ebola Cases in Spain Test Negative

Spanish Govt: Four Suspected Ebola Cases in Spain Test Negative

AFP (Oct. 17, 2014) All four suspected Ebola cases admitted to hospitals in Spain on Thursday have tested negative for the deadly virus in a first round of tests, the government said Friday. Duration: 00:55 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:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

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