New study finds genes behind Raynaud’s phenomenon

Today, Raynaud's phenomenon is common, affecting 2 to 5% of the population. It is more frequently found in women and manifests in two forms. The first, known as Primary Raynaud's, is the most prevalent. According to Dr. Marie Gerhard-Herman, an associate professor at Harvard Medical School, it is typically diagnosed in teenage girls and women in their 20s.

With symptoms that are manageable, such as coldness and subtle numbness, many patients still require medication and treatment to alleviate their symptoms. Meanwhile, Secondary Raynaud's is rare and can be accompanied by serious side effects, such as ulcers on the fingers and gangrene, which has concerned medical professionals for the past several decades.

In a study published on Thursday in a journal titled "Nature Communications," researchers found evidence that could lead to more effective treatment for Raynaud's. They examined data from more than 440,000 people in the United Kingdom and discovered two distinct genes that contribute to the formation of Raynaud's.

One of the study's lead researchers, Malik Pietzner, reported that one gene variant affects how blood vessels narrow. With this variant, people have a higher number of a particular receptor for hormones that are released when their bodies are cold or stressed. The other gene variant found affects how blood vessels relax.

Following these discoveries, Pietzner and many other medical professionals believe they will be able to develop more effective treatments for patients. Although both variants in the study were linked to Primary Raynaud's, researchers are hopeful that new medications targeting the hormone receptor can limit side effects for both forms.

However, the researchers noted there were limitations to the study, even though it is the largest genetic study of Raynaud's to date. In an interview with NBC, they mentioned that they relied on patients' diagnostic codes in their electronic health records, without considering family ancestry. The study also focused solely on people of European descent, which means the results cannot be generalized to all populations.

Despite these limitations, the study has demonstrated the potential for improved treatment, with medical professionals emphasizing the positive aspects of the research.