Genetic Predisposition to Sarcoidosis

The study of inherited traits and how they are passed down through generations.

A collection of genes that are passed from parent to offspring.

A change in the sequence of DNA, which can cause variations in traits.

A research method used to find genetic variants associated with diseases.

Sequencing the complete set of protein-coding genes in a genome.

Sequencing the entire genome, including both protein-coding and non-coding regions.

The accumulation of a disease in a family, suggesting a possible genetic component.

A study that compares the incidence of a disease in relatives of affected individuals to the general population.

A type of genetic variation where a single nucleotide (DNA building block) is altered. It can be associated with different diseases and traits.

A family of genes that code for proteins involved in immune responses, particularly in inflammation.

A gene that encodes an enzyme involved in the production of inflammatory mediators.

A specific type of sarcoidosis characterized by fever, joint pain, and swelling in the ankles and feet.

A protein involved in cell signaling and immune regulation, potentially linked to autoimmune diseases.

A method of genetic analysis that examines the entire genome (all genes) of an individual.

A method of genetic analysis that focuses on specific protein-coding regions of the genome.

A group of genetic variants (SNPs) that are inherited together and potentially linked to specific traits or diseases.

A type of immune system protein involved in immune responses. They are crucial for recognizing foreign invaders (like bacteria or viruses) and triggering immune responses.

A group of genes involved in the production of HLA proteins, which are critical for immune recognition and response.

A specific mutation in a gene that alters the protein it codes for. These changes can sometimes lead to disease.

A condition where the body's immune system mistakenly attacks its own tissues. This can cause inflammation and damage to organs.

Variations in a gene's DNA sequence that can affect its function. These variations are common in the population and can contribute to susceptibility to disease.

A study with a sample size that is too small to detect statistically significant differences between groups.

In a study that compares different groups, the ability of the study to detect a true association between a variable and the outcome.

A trait or characteristic of an individual that is determined by genes.

The study of genetic factors that contribute to the development of a disease or condition.

A stage of sarcoidosis that is characterized by more extensive lung involvement.

A protein belonging to the tumor necrosis family, found in increased levels in the blood and lungs of sarcoidosis patients, potentially linked to disease severity.

A genetic variant associated with increased risk of sarcoidosis, particularly in those with European ancestry.

A genetic variant associated with decreased risk of sarcoidosis, especially in those with European ancestry.

A genetic variant found to increase sarcoidosis risk and contribute to disease progression, potentially through an inflammatory pathway.

A genetic variant that can influence sarcoidosis risk, but its association with disease varies across different populations.

The concept of analyzing the origin of genetic material within individuals of mixed ancestry to understand how specific genes may influence disease risk, particularly when self-reported race is not enough.

The shared genetic contributions to multiple diseases, indicating that genes may influence risk for more than one disease.

A specific variation in the DNA sequence at a particular location in the genome, such as a single nucleotide polymorphism (SNP). These variations can influence how genes are expressed and contribute to an individual's risk of developing diseases.

A type of genetic variation found in a population where a specific base pair in a gene is replaced with a different base pair (e.g., G replaced with A).

A family of proteins that play a crucial role in the immune system's recognition of pathogens (foreign invaders).

A common autoimmune disorder characterized by inflammation of multiple organs and tissues. Symptoms can include fatigue, joint pain, and skin rashes.

A marker that indicates the presence or progression of a disease, often measured in blood or other bodily fluids. In the context of sarcoidosis, these markers can help clinicians assess the severity and track the course of the disease.

An inflammatory protein that plays a critical role in the immune response. In the context of this study, TNF-alpha is associated with the development and progression of sarcoidosis.

A key player in the regulation of the immune system. It influences the development and activity of immune cells, and its dysregulation has been linked to several autoimmune disorders.