Researchers Identify Faulty Gene As Major Cause Of Fuchs’ Corneal Dystrophy

The Los Angeles Times (8/25, Maugh) reported that, according to a study (pdf) published online Aug. 25 in the New England Journal of Medicine, “researchers have a identified a faulty gene that is the major cause of Fuchs’ corneal dystrophy (FCD), which affects an estimated 5% of Americans over the age of 40” and “can ultimately cause blindness by blocking the transmission of light through the cornea.”
For the study, researchers “analyzed the genomes of 280 people with Fuchs and 410 people without the disease,” HealthDay (8/25, Phillips) reported. “They found that people with particular versions of a gene called transcription factor 4 (TCF4) were much more likely to develop FCD.” Specifically, “people with one copy of a high-risk version of TCF4 were five times more likely to develop FCD as were people without one of these versions; those with two copies were 30 times as likely to develop the disease.”
MedPage Today (8/25, Smith) reported that “a second region in the gene encoding protein tyrosine phosphatase receptor type G…also appeared to be associated with the disorder, but the association did not reach a preset level for genome-wide significance of P=5×10-8.” An accompanying editorial (pdf) suggested that “once the true causal variants have been pinned down, ‘a clinically useful predictive test may be on the horizon.'”
The UK’s Daily Mail (8/26), the UK’s Telegraph (8/26), the UK’s Press Association (8/26), and Reuters (8/26, Kelland) also cover the story.

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One Response

  1. Researchers Identify Faulty Gene As Major Cause Of Fuchs' Corneal ……

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