No popular authors found.


Get Celiac.com's E-Newsletter

Categories

No categories found.







Ads by Google:


Questions? Join Our Forum:
~1 Million Posts
& Over 66,000 Members!



SHARE THIS PAGE:
Celiac.com Sponsors:

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.

Ads by Google:

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.

Source:

Celiac.com welcomes your comments below (registration is NOT required).












Related Articles



1 Response:

 
Jenny
Rating: ratingfullratingfullratingfullratingemptyratingempty Unrated
said this on
26 Apr 2011 3:27:37 AM PST
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?




Rate this article and leave a comment:
Rating: * Poor Excellent
Your Name *: Email (private) *:




In Celiac.com's Forum Now:


Gemma......if you are ever in London, please check out this place. It is a 100% gluten free bakery and the food is out of this world! I can't get bread like this in the States and it certainly is worth a road trip for anyone living in the Uk, within reasonable distance from London. It will eas...

Celiac disease can be dormant for years til a strain/stress to the immune system makes it come out. Many of us have had this issues, your infection run in might have triggered the dormant genes for the disease if you had them. I would follow up with the testing, see about getting a full celiac bl...

Yeah , i will look into getting tested - like you say there is no harm in it . What I found very interesting is the part where you say "Later I got pains in the stomach, usually a dull ache although I could get a fierce stabbing pain there too. When I went gluten free those pains stopped. as did ...

Hi , i was thinking that an intolerance and allergy were about the same thing really but sorry if im wrong. I know celiac is an autoimmune disease but was thinking that is different again, more serious and was erring on the side of my possible issue not being that but more of the intolerance typ...

Karen's point about parasites etc is a good one. They can cause a lot of symptoms similar to celiac /ncgs as you probably know. At 11 I had my appendix removed following pain in the lower right side of my torso. On waking up the surgeon told me that it was actually ok, when I asked what cau...