A large genetic study identified 14 independent genetic regions linked to bowel movement frequency. This research offers clues on how genes and their variants can influence gut function in humans. The study suggests that genes in these regions may control how often a person poops by affecting intestinal movement. Here we highlight 5 of the genes. Â
Brain-Derived Neurotrophic Factor (BDNF) Gene
The BDNF gene, implicated in regulating neuronal growth and survival, plays a crucial role in modulating bowel movement frequency. Variants in this gene, such as the lead SNP rs12273363, have been associated with stool frequency through GWAS meta-analysis. BDNF is known to exert its effects on enteric neurons, which are integral to coordinating peristalsis and gastrointestinal motility. Hence, genetic variations in BDNF can impact the expression and function of enteric neurons, consequently influencing the frequency of bowel movements.
Cyclin-Dependent Kinase 18 (CDK18) Gene
CDK18, a member of the cyclin-dependent kinase family involved in cell cycle regulation, emerges as a significant contributor to bowel movement frequency. The identified lead SNP rs11240503, located proximal to CDK18, suggests its involvement in modulating stool frequency. CDK18 expression has been detected in colonic M cells and enterocytes, indicating its potential role in colonic function. Variants in CDK18 may affect its expression levels or activity, thereby impacting colonic physiology and bowel movement frequency.
Sorting Nexin 24 (SNX24) Gene
SNX24, a protein involved in intracellular trafficking and sorting, is implicated in the regulation of bowel movement frequency. The lead SNP rs39819 associated with stool frequency maps to the SNX24 gene locus. While the exact mechanism by which SNX24 influences bowel movement frequency remains elucidated, its involvement in cellular processes suggests potential roles in gastrointestinal function. Further studies are warranted to uncover the specific mechanisms through which SNX24 variants exert their effects on stool frequency.
Kinesin Family Member 4B (KIF4B) Gene
KIF4B, a member of the kinesin superfamily of motor proteins, is identified as a candidate gene influencing bowel movement frequency. The lead SNP rs13162291, located near KIF4B, suggests its involvement in modulating stool frequency. KIF4B is implicated in various cellular processes, including intracellular transport and mitosis. While its precise role in gastrointestinal physiology is not fully understood, genetic variations in KIF4B may impact its function in enteric neurons or other relevant cell types, thereby affecting bowel movement frequency.
Lunatic Fringe (LFNG) Gene
The LFNG gene, encoding a glycosyltransferase involved in Notch signaling pathway regulation, is associated with bowel movement frequency. The lead SNP rs12700026, located in proximity to LFNG, suggests its potential role in modulating stool frequency. Notch signaling is implicated in various developmental and physiological processes, including gastrointestinal function. Therefore, genetic variations in LFNG may influence Notch signaling activity in gastrointestinal tissues, ultimately impacting bowel movement frequency. Further investigation is needed to elucidate the specific mechanisms underlying the association between LFNG variants and stool frequency.
While genetic SNP variants mentioned above are individually associated with stool frequency, another approach for finding a person’s genetic likelihood for a trait is to use a PRS (Polygenic Risk Score), which comes from a combination of multiple SNPs that together play a role in the genetic association. LifeDNA’s high-density SNP signature for the Bowel Movement Frequency trait has been developed from a set of 845 SNPs that together play a role in stool frequency (note: only 15 top SNPs are displayed on our report).