4 Genes Linked To Hernia Susceptibility

First Posted: Dec 22, 2015 02:04 AM EST
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New findings published in Nature Communications show that four genes may contribute to the risk of abdominal hernias.

Though hernias, otherwise known as bulges that occur through an abdominal opening, only occur in about 2 percent of men, researchers found that four genes were expressed in hernia patients but not in those who did not suffer from the health issue.

An estimated 750,000 surgeries are conducted in the U.S. annually to treat the condition, with risk increasing with age. Men have a 27 percent lifetime risk of developing an inguinal hernia, while women have 6 percent lifetime risk.

"Surgical repair of inguinal hernias is one of the most commonly performed operations in the world, yet little is known about the genetic mechanisms that predispose individuals to develop them," said Dr. Eric Jorgenson, a researcher at the Kaiser Permanente Division of Research, in a news release. "These findings provide insight into the origins of hernia development and highlight genetic pathways for studies of its treatment."

During the study, researchers at the University of California San Francisco and Kaiser Permanente analyzed genomic data on close to 73,000 people on the managed care company's members involved in the study. From the sample, over 5,000 participants had hernias, while the rest did not. Researchers then compared them with the genomes of close to 10,000 people who self-reported hernias and close to 82,000 people who did not report them, with information collected via 23AndMe.

"We observed expression of four genes in these regions in mouse connective tissue, which suggests they could have a role in hernia development," explained Nadav Ahituv, PhD, associate professor in the Department of Bioengineering and Therapeutic Sciences, in the UCSF schools of Pharmacy and Medicine. "We also found through network analyses that at least two of these genes operate in the same biological pathway, pointing to new areas of investigation."

After identifying the genes, researchers then confirmed their expression by the researchers in mouse connective tissue. They found that two are particularly important for connective tissue maintenance and homeostasis.

"Taken together, our findings suggest that these four new regions affect the development of inguinal hernias through the regulation of both collagen and elastin maintenance," added co-lead author Nadja Makki, PhD, a member of the Ahituv lab.

"Further research into the precise mechanisms through which these regions act may improve our understanding of hernia formation and point the way to more effective preventative, operative and non-surgical treatments of this common disorder," Jorgenson concluded.

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