Emphysema (Parker, 2019)

STUDY TITLE: Identification of an emphysema-associated genetic variant near TGFB2 with regulatory effects in lung fibroblasts

SUMMARY: Genetic variants near the TGFB2 gene may increase the risk of emphysema by elevating TGFB2 expression in lung fibroblasts.

DESCRIPTION:  Emphysema is one of the main types of chronic obstructive pulmonary disease (COPD) that occurs when the air sacs in the lungs are damaged. This makes it difficult to breath and most individuals with this lung condition develop a chronic cough. Although smoking is the most common cause of emphysema, air pollution, certain chemical fumes, and genetics are also risk factors. Therefore, this study looked at 10,192 non-Hispanic white and African American subjects to find how genetic variants near the previously-identified TGFB2 gene influence the risk of emphysema. The study found that variants near the TGFB2 gene, which are associated with increased risk, increase the expression of TGFB2 in fibroblasts. The TGFB2 protein helps regulate the expression of other genes and is involved in many cellular processes, such as cell growth and apoptosis (programmed cell death).

DID YOU KNOW? To prevent emphysema, avoid cigarette smoke and air pollutants when possible. Additionally, wearing a mask if you work with chemical fumes can reduce your risk for this disease. [SOURCE]

SAMPLE RESULTS: Learn more about the Nebula Research Library.

Emphysema sample results.

EMPHYSEMA-ASSOCIATED VARIANTS: rs56077333, rs17368582, rs56113850, rs796395, rs138641402, rs76756075, rs78070126, rs145770770, rs379123

Overview of Emphysema
TGFB2 Signaling Pathway

WEEKLY UPDATE: August 2, 2019

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