A new study found a connection between stool frequency and DNA
Every person has a different habit when it comes to poop but new research found there’s a genetic explanation for that.
While many people rarely think twice about going when the urge occurs, others suffer from gastrointestinal diseases such as irritable bowel syndrome (IBS), which affects up to 10% of people globally with abdominal pain, bloating, irregular bowel habits, constipation, and diarrhea.
In the latest study, published in the journal Cell Genomics, professor Mauro D’Amato and researcher Ferdinando Bonfiglio examined stool frequency and how this correlates with genes. The findings provide clues as to the genetic risk factors associated with IBS.
Identifying the genetic connections for complex disorders like IBS is difficult for various reasons. One way to simplify things is to deconstruct the disease into distinct biological components or features connected to the physiological processes disrupted during illness. These are known as endophenotypes or intermediate phenotypes. Blood pressure is an example of an intermediate phenotype in the context of cardiac disease.
They chose to explore gut motility, as a hallmark intermediate phenotype of IBS in their research. To provide some context, many patients with IBS from intestinal dysmotility, which occurs when the gut’s contents do not move properly through the digestive system, and constipation or diarrhea may occur as a consequence.
While direct measurement of gut motility in humans necessitates clinical procedures that are not appropriate for large-scale investigations, stool frequency has been demonstrated to correlate with gut motility and so may be used as a proxy in large genetic studies.
They studied data from 167,875 participants (collected from the UK Biobank and four smaller groups in Europe and the United States) who submitted information on how often they move their bowels.
They studied millions of DNA markers, which are the building blocks of our DNA that make each of us genetically distinct, and established for the first time that stool frequency is, at least in part, a heritable trait.
They discovered 14 areas of the human genome where particular DNA markers are more common in persons who have more or less frequent stools than the general population. So various genes (including neurotransmitters, hormones, and receptors) are involved in the communication between the gut and the brain within these regions.
While some of these molecules were already recognized and were even drug targets for influencing gut motility, the majority of them are new alternatives for treating diarrhea, constipation, and IBS.
They also discovered that stool frequency and IBS had analogous genetic architecture. Therefore, the same genetic variables that control stool frequency appear to play a role in the likelihood of getting IBS.
Finally, they attempted to evaluate if the information gained from their research could be employed to identify those who are at a higher risk of developing IBS. This was accomplished through the use of polygenic scores, which are numerical values that aggregate together genetic information, in this case referring to the likelihood of having altered stool frequency.
This was particularly useful for IBS, which was extremely sensitive to diarrhea. They found that those with higher polygenic scores (and thus more likely to have higher stool frequency) are up to five times more likely to develop IBS with diarrhea than the general population, according to data from the UK Biobank.
It’s worth noting that this research ignores lifestyle and nutritional factors, both of which have an impact on bowel behavior.
Additionally, the value of stool frequency polygenic scores in predicting IBS must be evaluated and validated in independent investigations with individuals of various ethnic origins since only individuals of European ancestry were included in this research.
Ultimately, these are significant preliminary genetic findings that may help assess new therapeutic alternatives. They also open the door to using genetic data to identify IBS patients, as well as those who fall into certain subgroups (such as IBS characterized by diarrhea). This, in turn, could contribute to the classification of patients into treatment groups.
Source theconversation.com
