Genetic Study of Asthma

    In a recent article published on May 2, 2025 by the Physician's Weekly, states that researchers found significant differences in genes potentially linked to adult-onset asthma and childhood-onset asthma with an overlap between the two. After combining experiment and computational approaches to reanalyze genome-wide association study (GWAS) for data on AOA and COA the researchers ended up discovering hundreds of genetic variants with a high likelihood of having a causal effect on both types of asthma. The researcher team applied a fine mapping of a statistical technique with asthma, in order to summarize statistics found from the UK Biobank. It was explained that the GWAS association provides sets of variants associated with the disease in order to perform the research. So when the variants overlap with chromatin regions in cell types that are relevant to asthma pathogenesis like lung epithelial cells can potentially cause casualties to the asthma phenotypes. The researcher were able to incorporate data on expression quantitative trait loci, which is a genetic variant associated with differences in the gene expression and chromatin interactions from blood and lung cell types to link the fine mapped variants to their target genes Therefore refining the list to the likelihood of casual genes. After doing so the fine mapped analysis revealed 21 credible sets of variants for AOA and 67 for COA with just a 16% of sets shared by the both. Once the researchers searched the loci for cis-regulatory elements linked to asthma they were able to nominate 62 candidate genes for AOA and 169 for COA which was more than 60% of which exhibited open chromatin in multiple cell lineages, that could include many genes that would've involved immune and inflammatory responses. They were able to confirm regulatory effect, and that six of these candidate elements were tested in brachial epithelial cells by using luciferase reporter assays. According to the study, four of them showed allele specific activity consistent with the asthma risk variant which would then narrow the function gap.

Links: 

https://www.physiciansweekly.com/adult-childhood-onset-asthma-are-different-diseases-genetic-study/ 

https://www.who.int/news-room/fact-sheets/detail/asthma

Genetic Basis of the Brain-Gut Axis in IBS

From Gene to Gut: IBS and Your Mental Health

    With the upward trend of brain-gut connection research, comes intriguing results. Researchers from the University of Oslo, University of Bergen, and University of California, have found conclusive results about the connection between genetic inheritance of IBS and mental health conditions. The sample size included 53,400 people with IBS and 433,201 control participants while they searched for genomic risk loci, or specific areas of interest in DNA sequences that appeared to correlate with the IBS and mental health conditions. IBS and mental health conditions are polygenic traits as they rely on a heavy influence from various genes, and many of these genes were found to be shared in the sample sizes. There were 70 loci identified in the connection between IBS and mental health conditions, with the results concluding: 7 associated with GAD, 35 with depression, 15 with schizophrenia, and 27 with BPD. Now, new connections and pathways between the brain and gut can be better examined and enhance our understanding of these conditions.

    This was a great article to read, and also put many things into perspective. Many clinicians neglect the fact that a physical medical condition can have an impact on your mental health, and I believe this data directly proves there is a definite connection between the two. Furthermore, IBS is often used to describe food sensitivity to FODMAPS, and most people with IBS are instructed to follow a low FODMAP diet; however, this alludes to the fact that maybe IBS shouldn't be classified as a food-sensitivity related disorder, but rather that of a mental health condition because stress and anxiety factors can trigger the same symptoms. In my opinion, this is a classical case of medicine placing an umbrella term for a condition that can have many different causes, but are neglected to be looked into any further. I feel strongly about this topic, and hope to change the narrative when I enter the medical field.

Links for further research:

1) https://www.sciencealert.com/many-of-the-genes-behind-ibs-could-also-affect-our-mental-health 

2) https://medicine.missouri.edu/news/irritable-bowel-syndrome-patients-suffer-high-rates-anxiety-and-depression

Chocolate Lovers Gene

Liking high-fat foods can now be linked to your genes. The scientists who made this discovery hope to use it for personalized dietary advice to help obese patients. This linkage occurs in the receptor gene or oxytocin; a preference for chocolate and a larger waist is linked to this hormone. Salt intake shows to be linked to CREB1 and GABRA2 loci. The study was done using a questionnaire which could cause some false results based on lying.

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