Background During the last two decades, the polymorphism of Angiotensin-Converting Enzyme (ACE) gene has been extensively studied among different human populations. In humans, several studies have shown the relationship between this polymorphism and the risk of many serious diseases with a heavy burden of health in developing countries. After analyzing the polymorphism in the population, the present study was also concerned with the investigation of an eventual association between hypertension, stroke, cancer prostate and I/D polymorphism of the ACE gene. Materials and Methods Our study population included 163 Baka (pygmy) and 158 Fang (Bantu) from Gabon to evaluate the polymorphism in the country. Concerning the diseases, we included 105 patients and 120 controls for hypertension, 37 patients stroke matched with 50 controls and 97 patients with prostate cancer were recruited. All participants in the study were genotyped for the ACE I/D polymorphism obtained by polymerase chain reaction amplification on genomic DNA. Results Our analysis showed that the ACE D allele DD genotype frequencies were highest of all the data so far in human populations. We obtained a frequency of 0.138 for I allele and 0.862 for D allele among pygmy and the frequencies of 0.313 and 0.687 respectively for the I and D alleles. This difference was significant (p<0.05). In patients, we revealed the predominance of D allele and DD genotype for hypertension (0.27 for I allele and 0.73 for D allele), for stroke (0.15 for I allele and 0.85 for D allele) and 83% of individuals with cancer prostate carry the D allele. D allele and DD genotype are associated with risk to hypertension whereas allele I seem protective at the occurrence of stroke (p<0.05 between healthy and controls). Conclusion We show that the D allele and DD genotype were higher in this population. Also theses two signatures may be associated at genetic risk of hypertension, stroke and prostate cancer in this country deprived of human resources for quality care of many patients. Show less

50 years ago the Enzyme Immunoassay Enzyme-Linked Immunosorbent Assay, mostly known as ELISA was developed. This is a powerful but simple method that is very widely used in the diagnostic practice, as well as in biomedical research. During this time a number of ELISA modification were developed that significantly increased its properties, especially the senstivity, such as avidin-biotin assay, immuno-PCR, nano-ELISA and finally, the digital ELISA. This short review describes the principles of ELISA and the evolution from a conventional assay to the modern ultra-sensitive method. Most of the immunological methods have two components: antigen and antibody. The high specificity of their interaction gives a possibility to detect one of them if other one is included in the reaction as a specific partner. The simplest method for antigen detection in the presence of the antibody is immune diffusion (radial immune diffusion in that case), which practically the formation of precipitate of the “antigen-antibody” complex, when the target antigen diffuses from well into agarose containing the specific antibody. Unfortunately, this assay, as well as other traditional methods, like hemagglutination or complement fixation, have a low sensitivity and are unwieldy. Show less

Alcohol use disorder (AUD) is the most prevalent substance use disorder. Excessive alcohol consumption leads to a range of health issues. We set out to identify inflammatory markers linked to alcohol consumption, which might ultimately offer novel insight into genetic underpinnings and have implications for alcohol-associated disease. Alcohol consumption and blood-based multi-omics data were collected by The Mayo Clinic Center for Individualized Treatment of Alcohol Dependence study. Plasma samples from patients with AUD were used for proteomics analysis using the OLINK “Explore Inflammation” panel (n=410). Liver enzymes were also measured. A genome-wide association study (GWAS) was performed to explore the relationship between genetic variants and plasma TREM2 levels. Our findings show thatplasma triggering receptor expressed on myeloid cells 2 (TREM2), a key gene associated with neurodegenerative disease, was the most significant signal correlated with alcohol consumption, and has also been associated with liver enzyme levels in patients with AUD. We identified the rs7232 single nucleotide polymorphism (SNP) in MS4A6A as a key genetic variant associated with plasma TREM2 levels, with the minor allele (A) linked to higher TREM2 levels and increased alcohol consumption, particularly in men. Furthermore, MA4A6A is an ethanol-responsive gene in a SNP-dependent manner, and the variant genotype of the rs7232 SNP was associated with lower expression for MA4A6A due to proteasome-mediated protein degradation. In summary, this study provides insight into the relationship between plasma TREM2 levels, alcohol consumption, and liver function in AUD patients, shedding light on genetic factors underlying alcohol-related diseases. Show less