Suspected Genetic Link to Pulmonary Arterial Hypertension Discovered

According to an article published by Medical Xpress, Imperial College London has, with the assistance of a number of institutions from around the world, assembled the world’s largest yet genetic analysis of patients with pulmonary arterial hypertension (PAH). In doing so, they have identified two genes they believe to be related to development of the disease.

About Pulmonary Arterial Hypertension

Pulmonary arterial hypertension is a rare type of pulmonary hypertension, or high blood pressure in the lungs. In PAH patients, the smallest arteries in the lung narrow in diameter, leading to increased blood flow resistance in that area. Longtime patients may also experience heart damage from the increased blood pressure.

Unlike the other kinds of arterial hypertension, PAH is not usually caused by other underlying conditions. Typically it is either inherited (HPAH – heritable PAH), or crops up spontaneously with little warning (IPAH – idiopathic PAH). Both are serious – patients have an average life expectancy of just five to six years following diagnosis.

The Largest Genetic Analysis of PAH Yet

The study aggregated the results of a number of analyses run previously in Europe and North America. In the end, genetic information from 2,000 people with PAH was compiled and analyzed.

Thanks in no small part to the fantastic size of the data pool, researchers were able to isolate and identify variants of the SOX17 and HLA-DPB1 genes that were determined to be present in enough PAH patients as to be statistically significant. Previously, sample sizes had been too small to draw any meaningful conclusions from the subtle differences that arise between individuals when comparing 23,000 of their genes.

HLA-DPB1 is involved in the body’s immune system response. SOX17, the other specified gene, is a cornerstone in the formation of the linings of the lung arteries. Prior studies had shown that certain variants of the SOX17 gene might lead to HPAH, but it was only with this study that scientists uncovered a greater prevalence of SOX17 variants in PAH patients than had been previously thought to exist.

Identification of genes associated with a certain inherited disease is a vital step in the process of creating a treatment. Only once scientists have an understanding of what their “target” is can they begin to attempt to hit it. Despite the good news, it’s important to note that researchers are still uncertain what conditions cause pulmonary arterial hypertension – and a cure is still a long way off.

Collaborative scientific efforts can yield new insights from increased sample size and more diversified data. Do you think scientific research should be conducted on a more international scale? Do national boundaries create artificial boundaries to advancing research? Share your thoughts with Patient Worthy!

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