The Genetic Pattern that puts IBD Patients at Risk of Fatal Blood Clots

According Newswise, in a new study first published in Gastroenterology, researchers at Cedars-Sinai have identified a set of genes, made up of rare genetic deviations and more common genetic patterns, which link inflammatory bowel disease (IBD) to the development blood clots, the most common cause of death related to IBD.  The research is unique in looking at the wider pattern of contributing genes, rather than solely the rare defect. When they cross-compared the selected rare and more common genetic variations, the risk for patients increased by more than 50%.

Inflammatory Bowel Disease

Inflammatory bowel disease or IBD is an umbrella term for diseases that cause inflammation in the digestive tract, including Crohn’s disease and ulcerative colitis. Symptoms vary in severity and location, but include fever, tiredness, diarrhea, abdominal pain, cramping, bloody stool, lack of appetite, and weight loss. The symptoms may come in episodes and be followed by remission, or be present long-term without remission. There are treatments that mitigate inflammation of the digestive tract and relieve symptoms, helping patients achieve long-term remission. Symptoms can be life threatening.

The Genetic Study

The researchers searched for patterns amongst 792 IBD patients who had their whole genome sequenced. They looked for gene patterns that may be related the thromboembolism– a blood clot caused by the obstruction of blood vessels in the arteries or veins.  They hope to identify specific genetic codes that contribute to the disorder’s lethal blood clots. Blood clots are also affected by other factors including age, pregnancy, and past medical procedures.
Dermot P. McGovern, MD, PhD, the senior author of the study, said to Newswise,
 “While the risk for blood clots in IBD patients could be attributed to episodes of severe inflammation in the gastrointestinal tract that led to surgery, or to a side-effect of some medications, very little was known about the impact of genetics on that risk.”

Their Novel Approach to Genetic Patterns

The study was groundbreaking in its analytic approach, which looked at patterns including both rare and common gene patterns and compared the patient’s likelihood of experiencing blood clots. Their approach was unique from previous studies, which have only isolated rare genetic contributors without including the patient’s overarching patterns of genes. This study examines genes that don’t usually get included in IBD studies because they’re not directly responsible; but when thrown into the person’s genetic recipe, can exacerbate risk.
While there are certain rare genetic variations which are known to increase risk for developing blood clots, they found these are activated in combination with other more common genetic markers, making the more detailed genetic pattern more predictive. According to Newswise, the first author of the study Takeo Naito at Cedars-Sinai explained,
 “We found that rare genetic variations which have a big impact on blood clot risk in IBD patients, combined with more common genetic markers that have less of an impact, allowed us to more accurately predict the development of clots than looking at just one of those influences alone.”
These findings could help IBD patients to discover if they are at high risk to use appropriate blood medications, and whether a different therapy would be advisable. Dr. McGovern explained,
“Understanding the influence of the small and large genetic variants we identified would enable physicians to provide more precise or personalized medical care. For example, it might be wise to provide regular anticoagulant therapy for some IBD patients or to avoid using certain therapeutic drugs.”
The researchers note that while this information is extremely important for patients with IBD, the understanding of these genetic patterns goes beyond these inflammatory diseases and may be useful for anybody at risk of developing blood clots. They include, for example, the importance of this information for people with extreme cases of COVID-19, which is associated with an increased risk of developing blood clots. By digging deeper into the genetics and finding switches activating other parts of the system, we start to unpack the intricate web of human genetics.

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