[Genetic studies of connective tissue diseases]

Connective tissue develops from the mesoderm of a developing embryo and consists of cells, fibers, and ground substance: a gel-like material containing large complexes of carbohydrates and proteins. Connective tissue was first identified as a separate tissue family in the 18th century, and Johannes Peter Muller coined the term connective tissue.
Fat cells (adipocytes), smooth muscle cells (myoblasts), and bone cells (osteoblasts) are some connective tissue cell types. Some immune system cells...

Connective tissues are one of the four main tissue types in humans that are extensively present in the body. They are characterized by cells embedded in an extracellular matrix (ECM) composed of a ground substance and three main types of protein fibers— collagen, elastic, and reticular fibers. The ground substance of connective tissues can range from a watery and jelly-like consistency to mineralized and hard. The wide variety of cells in the connective tissues include fibroblasts, osteocytes,...

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

The connective tissues have different properties and functions in the human body. They are broadly categorized into proper, supporting, or fluid connective tissues.
Connective Tissue Proper
Connective tissue proper is the most abundant class of connective tissues. As its name implies, it predominantly connects different tissues in the body. Depending on the cell types, ground substance, viscosity, and fiber types in the ECM, connective tissue proper is further categorized into loose and dense.

Connective tissues perform a broad range of functions in the body. Their primary function is to connect and link different tissues in the body and act as packaging material between tissues. The areolar tissue, a connective tissue prototype, commonly cements various tissue types in diverse body organs. In contrast, adipose tissue cushions internal organs while insulating the body from heat loss.
Hard connective tissues, such as bones and cartilage, provide structure and support to the body.

The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...