22512 Multiple Independent Variants in 6q21-22 Associated with Susceptibility to Celiac Disease - Celiac.com
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Multiple Independent Variants in 6q21-22 Associated with Susceptibility to Celiac Disease


Celiac.com 04/22/2011 - A research team recently set out to examine multiple independent variants in 6q21-22 associated with susceptibility to celiac disease in the Dutch, Finnish and Hungarian populations.

The study team included Elisabet Einarsdottir, Marianna R Bevova, Alexandra Zhernakova, Alienke Monsuur, Lotta LE Koskinen, Ruben van't Slot, Chris Mulder, M Luisa Mearin, Ilma R Korponay-Szabo, Katri Kaukinen, Kalle Kurppa, Juha Kere, Markku Mäki, Cisca Wijmenga and Päivi Saavalainen.

Studies in Dutch, Finnish and Hungarian populations have shown that a locus on chromosome 6q21-22 carries higher susceptibility to celiac disease.

This same locus has previously been associated with susceptibility to other autoimmune diseases such as Crohn's disease and type 1 diabetes.

The study team conducted fine mapping on 446 independent individuals with celiac disease and 641 control subjects of Dutch origin. The team tested 872 tagging single-nucleotide polymorphisms (SNPs) in a 22 Mb region of chromosome 6.

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To identify risk variants in this region, the team followed up on the 12 most promising SNPs in 2071 individuals from 284 Finnish and 357 Hungarian celiac disease families.

Numerous markers in the region showed strong associations with celiac disease in the Dutch material. Two SNPs, rs9391227 and rs4946111, showed strong association with celiac disease in the Finnish population.

The rs9391227 connection is the strongest such connection yet found in the Finnish (P=0.003, OR 0.66), as well as the combined Dutch, Finnish and Hungarian populations (P=3.6 × 10−5, OR 0.76).

The rs9391227 site is located downstream from the HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1) gene and is contained within a region of strong linkage disequilibrium enclosing HACE1.

A meta-analysis of the three populations showed two additional independent, susceptibility variants in the 6q21-22 region.

The team confirmed the 6q21-22 region as a celiac disease susceptibility locus; one that is independently associated with a number of other conditions, and which may implicate ubiquitin-pathways in celiac disease susceptibility.

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1 Response:

 
Jenny
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said this on
26 Apr 2011 3:27:37 AM PDT
Interesting, but very hard for the lay person to understand! Obviously, it is research on a particular area of chromosome 6, but is it possible to explain what the results actually mean? Is it going to make a treatment any closer?




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Thanks that's good to hear it gets better getting myself familiar with the diet as well ??

Above is some great suggestions, read the 101 if you have not already and toss all your gluten items, clean out everything and make a safe living environment. I would as mentioned start off on a whole foods only diet, fresh vegetables, and meats cooked in water into stews in a crock pot are really easy to digest and can mixed up in various ways. Using crockpot liners will makes this easy clean up as well. I suggest new utensils, get rid of any scratched glass, teflon, or metal wares you have that could harbor gluten. Most plastic plates, bowls, etc will have to go. I suggest freezer paper for prep surfaces for clean work surface and easy clean up. Clean out your drawers, cubbards, fridge freezer, making sure to clean handles also. I might suggest drawer organizers to keep any think new you get from getting old crumbs, residue from the drawer on them. Go through your spices, and sauces toss anything not gluten-free. Your condiments in jars need to go, crumbs/residue from forks, knifes, spoons put them has contaminated them. Also remove dairy as mentioned it causes alot of issues for us and go easy on spices for a while just salt and pepper for a bit. There are many other things we can help with around here if you need brand to trust etc. Feel free to ask about anything your having issues with.

Welcome, Caro! As I told another poster (Gertrude) the other day, no other disease but Celiac Disease will cause a positive EMA. Why is it that many docs don't seem to grasp this? As for your tTg/IgA numbers falling a bit, thyroid disease will also affect that particular test. So, if your thyroid function has improved since the first testing you had done, that could account for the lower tTg number. I also have both Celiac and Hashi's so my advice comes from experience, not from a medical degree. May I ask you how they treated your thyroid without thyroid hormone or surgery? I find it odd that someone would recommend surgery when that is what you do for Graves Disease or hyper thyroid, as it is often called. You say that your thyroid function improved but with Hashi's, that usually does not happen without using thyroid hormone. If you are new to Hashi's thyroid disease, then the gluten free diet may help to the point where you do not need thyroid hormone. Mine was too far gone from long undiagnosed Celiac so I am on hormone replacement for life. Not a bad thing......I am glad they have good replacement hormone choices. BTW...I do not take synthetic hormone like Synthroid. I use natural thyroid hormone which contains both T3 and T4 hormone. Worked much better for me. Lastly, both Hashi's thyroid disease and PCOS are often seen with undiagnosed Celiac. Both are associated conditions so your other health issues are clues to the whole picture. Good luck with the docs but from what I have read here, you sound like a bona fide Celiac to me!

You'll get better, but be patient with yourself. I was diagnosed in November and was lucky to not have very many symptoms yet, as I caught it early. But, that said, it still took about 6 months to feel like my gluten free diet was even doing any good. I'm still tired a lot, but I have two kids and run a non-profit. I have bad anxiety and hoped that would decrease after my diagnosis but it's gotten worse - which tells me that gluten wasn't the culprit. Don't eat out. At all. Try to eat as healthy as you can. Eggs, unprocessed meats, nuts, fruits and veggies are your friends for now. I agree with cyclinglady about dairy. I still go easy on that. I can do yogurt and cheese, but I'm still taking it easy on milk. Lean on the people on here for support because they're pros. There's a huge learning curve with the diet, but you'll get the hang of it. Do lots of research and be patient. It just takes time.

Hey guys. So I've been trying to incorporate cardio back into my exercise routine. I'm starting out slow only 2 times a week for about a 30/45 mins on top of getting about 8k steps a day. The other day I went to the gym and I realized later on I had accidentally ate something before my workout that had been processed in a factory with wheat... but that night I felt terrible and was in bed the rest of the day. I thought at first the workout just wiped me out but now I know. Today I'm going to the gym again but I feel soo tired. Do you think that if my body is still healing that maybe I shouldn't go or will it help? I really want to get into shape before graduation but I'm still so exhausted. I feel like I must be "glutenating" myself on a daily basis because my roommates are soooo messy. I love them but I gotta get out and have my own kitchen or a kitchen where people are careful. I don't have the time to constantly clean up their messes. So I feel like my question is it okay to start putting my body through the stress of working out? I feel like it should be okay because it's a healthy stress right? Thanks.