UCSF

Ahituv, Kaiser Permanente study identifies genetic susceptibility for hernia

Research in the lab of UCSF School of Pharmacy faculty member Nadav Ahituv, PhD, in collaboration with the Kaiser Permanente Division of Research and others, has identified variations at four locations in the genome underlying risk for the most common type of abdominal hernia.

The findings of this first large-scale genetic study of hernia risk in adults were published on December 21, 2015 in Nature Communications in a paper co-authored by Ahituv and co-lead-authored by Nadja Makki, PhD, a postdoctoral fellow in his lab.

In inguinal (groin) hernias, “contents of the abdomen—usually fat or part of the small intestine—bulge through a weak area in the lower abdominal wall,” notes the National Institute of Health. The condition affects more than one in four men over the course of their lifetimes, while women have a six percent lifetime risk. More than 750,000 surgeries to repair the condition are performed annually in the United States alone.

While family history has been a known risk factor, this is the first study to analyze the complete genetic blueprints (genomes) of about 5,300 patients who had had surgically confirmed inguinal hernias and compare them with nearly 70,000 patients who had never had the condition.

The association between variations at the four genomic locations and hernia susceptibility was reproduced in an independent sample of 9,701 research participants with self-reported hernia repair surgeries from 23andMe, a personal genomics and biotechnology company.

Research in the Ahituv Lab further analyzed the activity of genes in these regions in mouse connective tissue equivalent to human intra-abdominal membranes. “Taken together,” Makki says, “our findings suggest that these four new regions affect the development of inguinal hernias through the regulation of both collagen and elastin maintenance” – that is, key proteins in connective tissues.

The Ahituv Lab is based in the Department of Bioengineering and Therapeutic Sciences, a joint department of the UCSF Schools of Pharmacy and Medicine.

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About the School: The UCSF School of Pharmacy is a premier graduate-level academic organization dedicated to improving health through precise therapeutics. It succeeds through innovative research, by educating PharmD health professional and PhD science students, and by caring for the therapeutics needs of patients while exploring innovative new models of patient care. The School was founded in 1872 as the first pharmacy school in the American West. It is an integral part of UC San Francisco, a leading university dedicated to promoting health worldwide.