Publications by authors named "Mireia Obon-Santacana"
Exploring the Chemopreventive Effect of Medication on Gene Expression Linked to Colorectal Cancer: An Observational and Mendelian Randomization Analysis in Healthy Colon Mucosa.
Int J Mol Sci
October 2024
Gene expression appears altered in apparently normal tissue surrounding tumor tissue. The observed biological alterations in the tumor microenvironment play a crucial role in cancer development and are named the cancer field effect (FE). A robust set of overexpressed FE genes in tissue surrounding colorectal cancer (CRC) tumor were identified in previous studies.
View Article and Find Full Text PDFBackground: Understanding genetic-metabolite associations has translational implications for informing cardiovascular risk assessment. Interrogating functional genetic variants enhances our understanding of disease pathogenesis and the development and optimization of targeted interventions.
Methods: In this study, a total of 187 plasma metabolite levels were profiled in 4974 individuals of European ancestry of the GCAT| Genomes for Life cohort.
(1) Introduction: The global rise of gastrointestinal diseases, including colorectal cancer and inflammatory bowel diseases, highlights the need to understand their causes. Diet is a common risk factor and a crucial regulator of gene expression, with alterations observed in both conditions. This study aims to elucidate the specific biological mechanisms through which diet influences the risk of bowel diseases.
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- Colorectal cancer (CRC) is a major health concern, and understanding how genetic and environmental factors interact can help identify at-risk groups.
- This study analyzed data from over 45,000 CRC cases to assess both multiplicative and additive interactions between genetic risk scores and various environmental factors, finding no multiplicative interactions but significant additive ones for high genetic susceptibility individuals.
- Results suggest that individuals with high genetic risk could benefit more from lifestyle interventions like reducing alcohol intake or increasing fruit and fiber consumption, emphasizing the need for targeted prevention strategies in CRC care.
Article Synopsis
- The study investigates how meal timing affects metabolism and body mass index (BMI) among different sexes, with a focus on sleep's influence.
- Data from over 7,000 adults in Catalonia was analyzed to identify relationships between meal timing, eating habits, and BMI using various statistical methods.
- Findings indicate that eating later in the day and more often raises BMI, while longer nighttime fasting lowers it. Notably, these effects vary between sexes, particularly impacting premenopausal women and men differently.
Article Synopsis
- - The study investigates the reliability of two sequencing methods, 16S rRNA gene and shotgun metagenomic sequencing, in profiling gut microbiota associated with colorectal cancer (CRC) using 156 stool samples from different patient groups.
- - Results indicate that 16S captures only part of the microbiota detected by shotgun, with notable differences in abundance, diversity, and taxonomic resolution due to varying reference databases.
- - Both techniques can reveal microbial signatures linked to CRC, but no clear superiority of one method over the other was established, suggesting they provide complementary insights into gut microbiota analysis.
Article Synopsis
- Folate intake plays a crucial role in genetic and metabolic processes, and low levels are linked to higher cancer risk, specifically colorectal cancer (CRC).
- The study analyzed dietary and supplemental folate intake among participants with CRC, investigating how this intake relates to specific genetic mutations using advanced sequencing techniques.
- Results indicated that higher total folate intake generally reduced CRC risk, but the impact varied when considering mutation status in tumors, with a few specific gene mutations showing different associations with folate intake.
Article Synopsis
- * Researchers analyzed data from 52 studies, including nearly 31,000 CRC cases and over 41,000 controls, to explore the genetic interactions with regular aspirin/NSAID use.
- * They found significant interactions with genetic variants in two specific regions (6q24.1 and 5p13.1), which could help uncover new targets for understanding how aspirin provides its protective effects against colorectal cancer.
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- Consumption of fiber, fruits, and vegetables may lower the risk of colorectal cancer (CRC), but genetic factors might influence this connection.
- A large study involving nearly 70,000 participants identified two significant genetic variants linked to dietary intake and CRC risk using advanced statistical methods.
- The findings suggest specific genetic loci (SLC26A3 and NEGR1) may affect how fiber and fruit consumption interacts with CRC risk, highlighting the need for more research on the underlying mechanisms.
Article Synopsis
- Menopausal hormone therapy (MHT) may lower the risk of colorectal cancer (CRC), especially in women with a higher genetic predisposition to the disease.
- In a study of nearly 30,000 postmenopausal women, those in the highest genetic risk quartile saw a significantly greater reduction in CRC risk when using MHT compared to those in the lowest quartile.
- The findings suggest that integrating genetic risk information could improve CRC risk predictions and inform the assessment of MHT benefits in postmenopausal women.
Article Synopsis
- Obesity is linked to various types of colorectal cancer (CRC), but the strength and cause of these links are not fully understood.
- By using Mendelian randomization, researchers studied how body size traits like BMI, waist circumference, and body fat percentage affect risks for different CRC subtypes.
- Results showed that higher BMI and body fat significantly increased the risks for serrated and alternate CRC pathways (Jass types 1, 2, and 3), while associations with the traditional pathway (Jass type 4) were weaker.
Colorectal cancer (CRC), the third most common cancer globally, has shown links to disturbed gut microbiota. While significant efforts have been made to establish a microbial signature indicative of CRC using shotgun metagenomic sequencing, the challenge lies in validating this signature with 16S ribosomal RNA (16S) gene sequencing. The primary obstacle is reconciling the differing outputs of these two methodologies, which often lead to divergent statistical models and conclusions.
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- The genotoxin colibactin is linked to a specific mutation signature in colorectal cancer (SBS88), affecting tumor characteristics and possibly influencing risk and survival outcomes.
- A study involving over 4,300 tumors found that higher fruit intake lowers the risk of SBS88-positive colorectal cancer, and some epidemiological factors like BMI and alcohol consumption show different associations based on the presence of SBS88.
- While most risk and survival factors were similar regardless of SBS88 status, higher BMI might lead to worse survival outcomes for those with SBS88, suggesting a need for further research with more comprehensive genetic data.
Article Synopsis
- High consumption of red and processed meats is linked to an increased risk of colorectal cancer, with a study analyzing data from over 29,000 cancer cases and 39,000 control subjects confirming this association.
- The research identified two significant genetic markers (SNPs) that interact with meat consumption levels, suggesting that certain genetic variants can influence individual cancer risk based on dietary habits.
- These findings highlight the potential for using genetic information to better understand colorectal cancer risks related to diet, which may lead to personalized dietary recommendations for specific population subgroups.
Genome-wide association studies have identified thousands of loci associated with common diseases and traits. However, a large fraction of heritability remains unexplained. Epigenetic modifications, such as the observed in DNA methylation have been proposed as a mechanism of intergenerational inheritance.
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- The study investigates the impact of cigarette smoking on breast cancer risk, highlighting the conflicting effects it may have due to its carcinogenic and antiestrogenic properties.
- Analysis from a large population-based study involving 1733 breast cancer cases and 1903 controls revealed that smoking increases the risk of premenopausal breast cancer, especially in long-term smokers (≥30 years).
- Conversely, for postmenopausal women, smoking may lower the risk of breast cancer, particularly in those who have stopped smoking for at least 10 years, indicating that menopausal status significantly influences the relationship between smoking and breast cancer risk.
Analysis of the bacterial community from a 16S rRNA gene sequencing technologies requires comparing the reads to a reference database. The challenging task involved in annotation relies on the currently available tools and 16S rRNA databases: SILVA, Greengenes and RDP. A successful annotation depends on the quality of the database.
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- A study is exploring how genetic variations might influence the relationship between folate intake and colorectal cancer risk, focusing on specific genetic interactions.
- The research analyzed data from over 30,000 colorectal cancer cases and 42,000 controls, examining the effects of dietary folate and folic acid supplements.
- Results indicated that while higher folate intake is generally linked to lower CRC risk, certain genetic variants (like rs150924902) can modify this effect, with some genotypes showing increased risk with folate supplementation.
Article Synopsis
- Diabetes is linked to a higher risk of colorectal cancer, but the mechanisms behind this link and the influence of genetic variants need further exploration.!* -
- Researchers conducted a genome-wide analysis using data from over 31,000 colorectal cancer cases and nearly 41,500 controls to investigate gene-environment interactions involving genetics and diabetes.!* -
- Findings revealed that specific genes on chromosomes 8q24.11 (SLC30A8) and 13q14.13 (LRCH1) may affect how diabetes increases colorectal cancer risk, highlighting potential biological pathways related to insulin signaling and immune functions.!*
Article Synopsis
- The study investigated the link between artificial sweeteners (AS) like aspartame and certain cancers, using a population sample from the MCC-Spain study, which included various cancer cases and controls.
- Overall, the research found no significant association between AS consumption and cancer risk; however, some links were observed specifically for participants with diabetes.
- High consumption of aspartame was correlated with an increased risk of stomach cancer, while a lower risk was noted for breast cancer in the same group, highlighting the need for cautious interpretation due to small sample sizes for certain cancers.
Article Synopsis
- The study investigates the role of a specific mutational signature (SBS88) in colorectal cancer (CRC), which is linked to a bacteria that produces a genotoxin called colibactin.
- About 7.5% of the CRC cases studied were found to be SBS88-positive, with a notable prevalence in the distal colon and rectum, and demonstrated distinct somatic mutations associated with colibactin-induced DNA damage.
- SBS88-positive CRCs were linked to better survival rates compared to negative cases, suggesting this mutational signature could help identify a unique subtype of CRC that may influence treatment and prevention approaches.
Edible mushrooms have high concentrations of vitamins and minerals. They are considered 'functional foods' for their disease-prevention properties. Mushroom consumption may reduce the risk of gastric cancer, the fifth most common cancer worldwide.
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