The Genetics Of It All

[heathen]

i notice that alot of you advanced community people know what specific genetic "defect" you have that contributes to your celiac disease. how did you find out, and did your insurance pick it up? i'm a classically diagnosed celiac, but i want to know which alleles i have and what that can mean if i want to have kids.

[AndreaB]

As far as I know Enterolab has the most genes that they look for, but I could be wrong on that.

I would think you'd be able to order the gene test all by itself from them. Enterolab tests for the "main" celiac genes as well as the gluten sensitive genes.

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[heathen]

thanks. i'll check into it.

[Guest cassidy]

I'm pregnant and I went to a geneticist because my ob/gyn recommended it. I asked about testing but she didn't think it was necessary. She said there is a 5-15% chance of passing it on and to make sure the pediatrician knew about my celiac. I thought it would be interesting to know which genes I had but it wouldn't be covered by insurance and it wouldn't really change anything. So, certainly find out if you want to, but just want to let you know that even the geneticists don't think it is necessary for pregnancy.

[CarlaB]

I did genetic testing because I was already gluten-free for my conventional tests, so they came out negative (even with a six week gluten challenge). I wanted to know if I just felt better off gluten or if I really had the genes to pass onto my children. I was tested by Enterolab and now know that I have two genes for gluten intolerance, which makes me very sensitive to it, but no genes for celiac. If you're classically diagnosed, I don't know that you'd need that information.

[happygirl]

The two officially recognized/identified Celiac genes are HLA-DQ2 and HLA-DQ8. Over 90% (and it may be higher than that...more like 95/98 percent) of Celiacs have one or both of these genes. However, between 30-40% of the American population has one or both of these genes, so JUST having the genes does not mean you have it. Dr. Fasano explains it as pepole with the genes have the compatibility to have Celiac, but there is an interplay with the environment. Most recent estimates by Fasano, et al, suggest that 1 in 133 (less than 1%) Americans have Celiac (and that doesn't include non-Celiac gluten sensitivity).

Dr. Fasano's study also provided the most current rates of Celiac and relatives. The following abstract is taken from Celiac.com and is based on a peer reviewed journal article.

According to a recently published large-scale multi-year and multi-center study, 1 in 133, or a total of 2,131,019 Americans have celiac disease. Alessio Fasano, MD, et. al., and colleagues screened 13,145 subjects using serum antigliadin antibodies and anti–endomysial antibodies (EMA). Those who had positive EMA results were screened again for human tissue transglutaminase IgA antibodies and celiac disease-associated human leukocyte antigen DQ2/DQ8 haplotypes, and when possible, intestinal biopsies were also given. Additionally, for those with biopsy-proven celiac disease, 4,508 first-degree relatives and 1,275 second-degree relatives were also screened for the disease. A total of 3,236 symptomatic patients and 4,126 not-at-risk individuals were screened.

The study determined the following:

Group Prevalence

First degree relatives 1 in 22

Second-degree relatives 1 in 39

Symptomatic patients 1 in 56

Not-at-risk individuals (overall prevalence) 1 in 133

These results are much higher than previous studies have found, and they indicate that celiac disease is perhaps the most common genetic disorder in the United States, as well as one of the most poorly diagnosed diseases.

Also, I believe that Prometheus Labs test for the Celiac genes. You coud ask your doctor about this.

There is increasing research on the potential influence of breastfeeding and the timing of gluten introduction in decreasing your child's risk of Celiac. Does not mean that it prevents it (or that not breastfeeding or introducing gluten at the 'wrong' time means that it causes Celiac), but that recent research is finding somewhat of "protective factors." Doesn't mean that breastfeeding your child and introducing gluten at the exact 'right' point means that your child is safe....but, the point is, researchers are learning more and more and hopefully that will lead you to make informed decisions when (if) one day you become a parent.

The other ironic thing is that in some families, everyone parent, child, sisters, brothers, etc. is a Celiac. On the other hand, there are many families where there is only one Celiac.

I hope this helps!!!