Gene Test Results... Worth Waiting For!

[Mother of Jibril]

In August I went to see an allergist because I was having a lot of abdominal symptoms (pain, bloating, gas, constipation) and I thought it might be food allergies. After doing a skin test (which turned up nothing), she suggested I try an elimination diet for two weeks followed by a challenge for any food(s) that seemed like a problem for me. When I stopped eating gluten it made a HUGE difference. I went to another doctor for a celiac panel, but by then I had been off gluten for five weeks... the results were negative.

So... I decided to do a genetic test. I figured it would give some information not only about my health, but about my parents and my kids. Here were the results:

HLA-DQB1*0302 (celiac)

HLA-DQB1*0302 (gluten sensitive)

serological equivalent DQ 3,3, subtype 8,7

This makes SO much sense... and I'm pretty sure I know which parent I got each gene from. The first one (0302) predisposes you to type I diabetes. My maternal grandmother had seven kids and died from type 1 diabetes when she was in her 30s... my mom was only 11 years old. It was really devastating for her whole family. My mom also has diabetes and has recently started taking insulin to keep it under control. The 0301 gene is associated with thyroid disorders (which my dad and I both have), skin cancer, fungal sinusitis (some of my cousins have had major sinus issues), apthous ulcers, microchimerism... and interestingly, protects you from Hepatitis C and mad cow disease. I guess there had to be some evolutionary benefit

WOW. I am SO incredibly grateful to have this information. It was worth every penny.

[ShayFL]

Genes are so very interesting arent they? So glad this has helped you.

If you dig hard enough, you can find research that supports HLA-DQB1 0301 being associated with Celiac Disease:

1994: Herrera M; Theiler G; Augustovski F; Chertkoff L; Fainboim L; DeRosa S; Cowan E P; Satz M L

Molecular characterization of HLA class II genes in celiac disease patients of Latin American Caucasian origin.

Tissue antigens 1994;43(2):83-7.

In the present study, the polymorphic domain of HLA class II genes present in a pediatric population of Argentinian celiac disease patients was analyzed by hybridization to sequence-specific oligonucleotides and DNA sequencing. Sixteen out of 16 DR5/7 heterozygous patients bore the DQA1*0501 and DQB1*0201 alleles implicated in the DQ2 risk specificity. The second exon of DQA1, DQB1 and DRB1 genes from 2 DR5/7 patients was characterized by DNA sequencing. The following alleles were found in both patients: DRB1*1101 and DRB1*0701; DQB1*0301 and DQB1*0201; DQA1*0501 and DQA1*0201. Previous serological analysis in this population had shown the presence of DQ2 in 95% of the patients (40% in controls) and a negative association with DQ1 haplotypes, suggesting the presence of other "permissive" or neutral alleles. The following HLA-DQB1 alleles, besides DQB1*0201, were identified in 31 celiac disease patients: DQB1*0301, 0302, 0401 and 0402. All these alleles share a common pattern of residues between positions 84 and 90, and distinct from that present in DQ1-related alleles.

***I believe one day HLA-DQB1 0301 will be one of the recognized genes for Celiac.***

I have HLA-DQB1 0301 and HLA-DQB1 0602.

Just found this:

Interestingly, the HLA-DQB1*0602 allele protects against IMD (immune-mediated diabetes), even if the HLA-DQB1*0301 or DQB1*0302 susceptibility gene is present. HLA-DQB1*0301 is the HLA haplotype frequently associated with autoimmune thyroiditis.

From this research:

Open Original Shared Link

This is good news for me!! I have the gene for TI but I also have the gene that protects me from it even though I have that diabetes gene.

Of note too is that the HLA-DQB1*0301 is also associated with autoimmune thyroiditis. Everyone in my immediate family has Hashi's including me. (Mom, Sis and Brother and my Mom's mother had it.)

[SGWhiskers]

WOW. I am SO incredibly grateful to have this information. It was worth every penny.

May I ask how many pennies? Did insurance cover it?

SGWHISKERS

[jerseyangel]

May I ask how many pennies? Did insurance cover it?

SGWHISKERS

Here is the pricing information from Enterolab--

Open Original Shared Link

[happygirl]

May I ask how many pennies? Did insurance cover it?

SGWHISKERS

Your doctor can order it and based on your policy/reason for testing, it is often covered by insurance.

[jerseyangel]

Your doctor can order it and based on your policy/reason for testing, it is often covered by insurance.

Yes--I paid for the Enterolab testing 2 years ago out of pocket because I was curious about which genes I had.

Recently, my new GI ordered the haplotype (gene) testing and my insurance paid for it in full. It was done by Quest.

I had to cut my previous answer short due to a stove malfunction.....

[Mother of Jibril]

I did it through Enterolab... $174 with tax. The gene test was the only one I ordered.

I'm not sure if my insurance company would have paid for it. I didn't ask. I live in a small town and I'm having a hard time finding a good doctor who's willing to work with me and test for things

Enterolab does give you an invoice and codes so you can submit a claim to your insurance company. I know some people have done this successfully.

[Rachel--24]

Of note too is that the HLA-DQB1*0301 is also associated with autoimmune thyroiditis. Everyone in my immediate family has Hashi's including me. (Mom, Sis and Brother and my Mom's mother had it.)

Yup....I'm DQ3 subtype 7 and I have thyroid disease (Graves). There is alot of thyroid disease in my family but noone with Celiac (or Celiac symptoms).

[Mother of Jibril]

Of note too is that the HLA-DQB1*0301 is also associated with autoimmune thyroiditis. Everyone in my immediate family has Hashi's including me. (Mom, Sis and Brother and my Mom's mother had it.)

I saw that too when I was looking around on the web. Also... DQ7 is associated with cow's milk intolerance! That's what my son has.

I was just talking to my mom about these results. She said, "So does that mean you'll have a problem with dairy when you start eating it again?" Who said I'm planning to? I LOVE cheese, but I love my health more.

[leadmeastray88]

HLA-DQB1*0301 is the HLA haplotype frequently associated with autoimmune thyroiditis.

From this research:

Open Original Shared Link

Wow! Thanks for this Shay, I have HLA-DQB1*0301 so I will be getting my thyroid tested next week (hopefully)!

Many thanks!

[ShayFL]

Here is another interesting finding:

Grass pollen allergy was associated with an increased frequency of HLA-DQB1*0301 (RR = 2.3; EF = 0.4; P = 0.0016) when compared with the control population.

Now I cannot tolerate grains or sugar which are ALL in the GRASS FAMILY!! Gramineae: Grass Family -- wheat, barley, rice, wild rice, millet, sorghum, corn, maize, bamboo shoots, sugar cane, teff, oats, rye, spelt

[Mother of Jibril]

Here is another interesting finding:

Grass pollen allergy was associated with an increased frequency of HLA-DQB1*0301 (RR = 2.3; EF = 0.4; P = 0.0016) when compared with the control population.

Now I cannot tolerate grains or sugar which are ALL in the GRASS FAMILY!! Gramineae: Grass Family -- wheat, barley, rice, wild rice, millet, sorghum, corn, maize, bamboo shoots, sugar cane, teff, oats, rye, spelt

What about sugar made from beets? That's the typical "refined sugar."

I haven't had a problem with diabetes (thank goodness... it runs in my family), but I have sloooowly been coming to the conclusion that I'm better off if I don't eat too much of it. High Fructose Corn Syrup was not too hard to get rid of. The big sticking point for me is chocolate. I LOVE chocolate. :P I eat an ounce or two of dark chocolate every day (at least 70% cocoa), which does have some physical and mental health benefits Chocolate has magnesium, lots of antioxidants, helps to keep your blood vessels elastic, and raises the level of serotonin in your brain. I would have a really hard time giving it up. Especially since I've had to stop eating gluten and casein. When I at least have a bit of chocolate I don't feel deprived.

[ShayFL]

Enjoy your chocolate!

I was just saying what "I" dont tolerate. I find it interesting with the grass allergy in HLA-DQB1 0301 that I have intolerances to the food grasses.

Chocolate gives me horrible rebound depression. There was a thread on chocolate. I found a site that showed other people like me that get severely depressed after eating chocolate. I thought I was the only one. Im not.

So eat some for me!

[Mother of Jibril]

I didn't take the grains comment personally... no worries! Even when you have the same gene, I know people can react in different ways. I'm just intolerant to a lot of the grains you listed... thank goodness I can still eat rice and wild rice. I don't eat teff very often, but I love Ethiopian food and that's what they use to make injera bread.

I do hope these things are not contributing to my autoimmune problems. In the meantime, I'm going to enjoy chocolate with every fiber of my being. I'm really sorry that it has such a horrible effect on you.

[mhb]

Did anyone see this recent news article at the NIH celiac awareness website Open Original Shared Link?

Seven New Gene Regions Implicated in Celiac Disease

An international team of researchers has discovered seven additional gene regions that increase the risk for celiac disease, bringing the total number of known risk regions to nine. Four of the risk regions

[Mother of Jibril]

I did read one of the articles on the main celiac.com website about the genetics of gluten intolerance. I also looked at the Wikipedia page on HLA-DQ types when I got my results:

https://www.celiac.com/articles/21628/1/Cel...tics/Page1.html

Open Original Shared Link

Enterolab and Kimball both use swabs to gather cells from the inside of your cheeks, not your saliva... but it's easy and completely painless. If I remember correctly, the important thing about Kimball (and Promotheus) is that they report on both the alpha and beta parts of your genes. DQ7, for example, has several different alpha types and it affects what other kinds of autoimmune disorders you're susceptible to. DQ2.5 puts you at risk for celiac and type I diabetes, but DQ2.2 does not. Really tricky! In cases like that it would be important to know the alpha portion of your gene(s). 98% of the DQ8 population (the other main celiac gene) has DQ8.1... so not much variation there.

Enterolab was enough for me, but I think in the celiac.com article Scott Lewey recommends Prometheus as the most thorough.

[Mother of Jibril]

Here is another interesting finding:

Grass pollen allergy was associated with an increased frequency of HLA-DQB1*0301 (RR = 2.3; EF = 0.4; P = 0.0016) when compared with the control population.

Now I cannot tolerate grains or sugar which are ALL in the GRASS FAMILY!! Gramineae: Grass Family -- wheat, barley, rice, wild rice, millet, sorghum, corn, maize, bamboo shoots, sugar cane, teff, oats, rye, spelt

Getting back to this for a second...

Apparently, grass pollen allergies are associated with something called "oral allergy syndrome" or "burning mouth syndrome"...

Open Original Shared Link

My dad (I'm pretty sure he's the one that gave me the DQ7 gene) has a ragweed allergy and was a really picky eater as a child... for years, he lived off potatoes and peanut butter sandwiches. Maybe this is why I'm having such a hard time introducing new foods to my son. Apples, pears, bananas, carrots... usually, kids like these foods, but my son just gags and makes the most horrible faces

Ughhh... it's so easy to dismiss something you haven't personally experienced. If these foods are making his mouth burn, no wonder he doesn't want to eat them.