Scientists discover genetic cause of vertigo

Posted at 12:51 PM, Nov 04, 2021
and last updated 2021-11-04 14:51:30-04

Scientists in the United States and Iceland who are collecting and studying DNA as part of the HerediGene: Population Study, the world’s largest DNA mapping initiative, have discovered the genetic underpinnings of vertigo, a condition that creates a sense of dizziness and causes balance problems for nearly 40 percent of Americans at some point in their life.

Vertigo is a leading cause of falls for Americans and results in tens of thousands of emergency department visits each year.

Scientists from Utah-based Intermountain Healthcare and deCODE genetics, a subsidiary of the biopharmaceutical company, Amgen, based in Reykjavik, Iceland, discovered six common genetic variants associated with vertigo.

Results of the findings are reportedin the scientific journal, Communications Biology, a publication of Nature.

“We haven’t had a clear explanation of the genetic basis of vertigo, so this is a very significant finding,” said Lincoln Nadauld, MD, PhD, one of the study’s authors and vice president and chief of precision health and academics for Intermountain Healthcare.

“Vertigo is one of the leading causes of emergency room visits across our health system. This discovery means we now have a much better understanding for why portions of our population experience these symptoms.” Dr. Nadauld added. “Now, scientists all over the world can read about this discovery and develop tests and medicines to help patients – thanks in part to our HerediGene study participants.”

For the study, scientists examined nearly 50,000 DNA samples against more than 894,500 controlled samples to discover six common genetic variants (genes ZNF91, OTOP1, OTOG, OTOGL, TECTA, and ARMC9) associated with vertigo.

“Our study revealed sequence variants in genes that may contribute to the pathogenesis of diseases in either the auditory system or vestibular (sensory) system and thus, further our understanding of the biological underpinnings of these two systems,” the investigators report.

In addition to the six vertigo associations, investigators reported eight vertigo associations with sequence variants that have previously been associated with age-related hearing impairment and motion sickness. However, they did not detect a significant correlation between the effect estimates of vertigo and those two phenotypes.

“Although disorders of the auditory and the vestibular system may co-occur, none of the six genome-wide significant vertigo variants were associated with hearing loss and only one was associated with age-related hearing impairment,” the scientists noted.

Vertigo, dizziness, and balance-related conditions are among the most common health problems in adults. It’s estimated that nearly 40 percent of all adults in the U.S. experience vertigo at least once in their lifetime, with women slightly more likely to get it than men.

The HerediGene: Population Study was launched by Intermountain and Amgen through its subsidiary, deCODE genetics, in 2019 as a major global collaboration and study focused on discovering new connections between genetics and human disease involving the collection of a more than a half million DNA samples from people in Utah and Idaho.

Since then, more than 75,000 people have enrolled in the study, which is the largest and most comprehensive DNA mapping effort to date in the United States from a single population.

“Our discovery of these genetic variants associated with vertigo is a great example of the types of important findings that we think are to come from the HerediGene: Population study,” said Kári Stefánsson, founderand CEO of deCODE genetics.

Members of the research team include cardiologists Kirk Knowlton, MD, and J. Brent Muhlestein, MD, from the Intermountain Heart Institute.

Dr. Knowlton, chair of the department of cardiovascular research for the Intermountain Healthcare Heart Institute, said that people experiencing vertigo often come to the emergency department thinking they’re having a heart attack or other cardiovascular problem.

“The immediate significance of this finding is its potential in how we take care of our patients,” said Dr. Knowlton. “Knowing that they may have a genetic predisposition to vertigo will help our clinicians effectively treat them and potentially distinguish the cause of their vertigo from other kinds of syndromes or diseases that are accompanied by dizziness.”

David Jones, PhD, chief scientist with Intermountain Healthcare and one of the study authors who helped analyze HerediGene’s participant data, is grateful to the many HerediGene study participants. He thanked the caregivers and study participants who have been critical in launching this discovery – which he believes is the tip of the iceberg of more discoveries soon.

“We’re excited by these important findings and believe this is the first of many discoveries from the HerediGene: Population Study that will help us better understand and more effectively treat and ultimately prevent diseases and disorders,” added Dr. Jones.

Anyone can enroll in the HerediGene: Population Study at no cost by consenting at and donating a small amount of blood at an Intermountain Healthcare hospital or clinic. Its goal is to better predict and prevent serious diseases through research and discovery.