Genetics, part 3

Yes, I’ve been obsessing. I know. This will be the last post and I will look for some other fun stuff for tomorrow – like new drug trials or posting about my awesome menu for the week.

I bought my Mom a 23andMe genetic test for Mother’s Day. Mostly for selfish reasons, but a little for her. I wanted find out where my Celiac genetics came from and why I have this. My dad died in 2002 so I don’t have access to his genetics. My sister, my mom, and my children don’t have the disease. My children don’t carry the genetic markers, but both of my sister’s children do. So, of my first degree relatives, I’m the lucky one.

Anyway, back to my mom, we got the results. She has 2 copies of DQ2.5 or DQ2.5 homozygous or DQ2.5+. TWO! Now, my mom does have severe environmental allergies, but she is not allergic or sensitive to any foods. She eats gluten. She has between a 5 and 31 fold increase in the rate of Celiac disease. She should have this, right?

Well it seems some smart scientists have studied this. It seems that there is some other factor that prevents her from developing celiac. It seems her immune system her regulatory T-Cells do not dampen the immune response. If the immune response is dampened, then T-cells can proliferate and thus you have Celiac. If the T-cells get really out of hand, you have Refractory Celiac. If they get really, really out of hand, you have enteropathy associated T-cell lymphoma – or Celiac cancer. Here is a link to the study.

So, look, I got this based on the luck of the draw. I had the genetic markers. When I was pregnant with my son, I got a really bad gastrointestinal disease. I was so sick I had to get IV fluids at the ER. Rotavirus is a common trigger for the Celiac genetics. Was that it? Probably. My mom has never had an illness like that – she’s had a few other things, but gastrointestinal distress is not something she gets. I’ve never had strep throat – so we all have our immunity quirks.

Also, I wanted to say one more thing about the specific alpha and beta parts of the Celiac alleles. If you have two copies of DQ2B*0202, then it seems you present with more “classic” celiac symptoms – diarrhea, weight loss – and more severe damage to the villi. That study is here.

That’s all I’m going to say about genetics. I’ve been making myself crazy for a couple of days on this and I’m officially putting this to bed. Until I buy my sister a kit and find out what her risk is…..

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