I am reading about the IRF5 gene. I have a mutation that isn’t doing me any favors.

Years ago I sent off a couple of cheek swabs to the genetic testing startup 23 and Me.

I have finally gotten around to reviewing the medical and health reports created from my results. I should have looked into this more thoroughly when I had the chance a few years back.

Doctors have been trying to figure why I have had attacks on my gallbladder and bowels. The answers were never discovered, until now. I have a variety of mutations that indicate the likelihood of a few serious diseases.

One such mutation, referred to as rs10488631, is located on the human gene known as IRF5.

Here’s what the 23 and Me report says about it:

“This SNP is located in the IRF5 gene, which encodes a protein that is involved in the regulation of a specific type of immune system cell. Variants in this gene have been associated with autoimmune diseases such as systemic lupus erythematosus (lupus), rheumatoid arthritis, and inflammatory bowel disease. Although its exact role in PBC is unclear, IRF5 has been shown to promote inflammation.”

I’ve always known that my immune system can be a bit touchy. My body sometimes overreacts, whether it’s allergy attacks when I was younger or medications for hypertension.

It’s nice to have some answers, even if it is bad news. Now, hopefully, the docs can help identify these diseases so that therapies can assist my body in combating them.




Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Google+ photo

You are commenting using your Google+ account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )


Connecting to %s