How does the genome encode "Chloride"?
Chloride is one of the most important electrolytes in the body. It is necessary to maintain a healthy balance acids and bases in your body, and works with other electrolytes, like sodium and potassium. Although chloride deficiency is rare compared to potassium deficiency, it is a fatal condition. Chloride is often measured along with other electrolytes to diagnose or monitor kidney disease, heart failure, liver disease, and high blood pressure.
For decades, clinical laboratory measurements (e.g., blood test results) have been powerful intermediate phenotypes used to diagnose and monitor human diseases, and continue to help scientists discover new findings. For example, recent large-scale studies of body mass index (BMI), a key measure for assessing obesity, revealed shared genetic effects on metabolic traits and the involvement of the central nervous system and immune cells in obesity susceptibility. However, shortcomings of such studies is that they often primarily focus on subjects of European ancestry, and few quantitative traits. To create more comprehensive findings additional studies of non-European populations that investigate a wide range of clinical measurements and relevance to complex diseases is needed.
One of the largest non-european phenotypes studies, was a genome-wide association study (GWAS) of 58 quantitative traits among 162,255 Japanese individuals from the BioBank Japan Project (BBJ) created to broaden the current knowledge and understanding of the genetics and biology of these traits. 58 quantitative traits were categorized into ten groups such as metabolic, protein, kidney-related, and electrolyte. The category of electrolytes included sodium, chloride, calcium, phosphorus, and potassium. They did exclude subjects with poor kidney function. Overall, they identified 1,407 trait-associated loci, 679 of which were novel. As for chloride, the mean chloride levels in the sample population (n= 126,402) was 104,38 mEq/L. The results showed significant associations between 19 loci and chloride levels, all of which were novel.
Among these Japanese individuals they were able to identify a relationship between factors such as specific genotypes, genetic correlations and quantitive traits with disease sucespbiility including; cardiometabolic, immune-related, hematologic, psychiatric, and musculoskeletal diseases cancer. They identified 68 significant genetic correlations, which supported the biological relevance of associations between clinical measurements and complex diseases. The most significant correlation was observed for type 2 diabetes with 15 quantitative traits, but these traits did not include chloride levels in this study. Read more about the study here:
https://pubmed.ncbi.nlm.nih.gov/29403010/
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