PDA

View Full Version : Origin of celiac disease: : How old are predisposing haplotypes?



Jean M
10-07-2012, 10:53 AM
Giovanni Gasbarrini, Olga Rickards, Cristina Martínez-Labarga, Elsa Pacciani, Filiberto Chilleri, Lucrezia Laterza, Giuseppe Marangi, Franco Scaldaferri and Antonio Gasbarrini, Origin of celiac disease: How old are predisposing haplotypes? (http://www.wjgnet.com/1007-9327/pdf/v18/i37/5300.pdf), World J Gastroenterol. 2012 October 7; 18(37): 5300-5304.


We recently presented the case of a first century AD young woman, found in the archaeological site of Cosa, showing clinical signs of malnutrition, such as short height, osteoporosis, dental enamel hypoplasia and cribra orbitalia, indirect sign of anemia, all strongly suggestive for celiac disease (CD). However, whether these findings were actually associated to CD was not shown based on genetic parameters. To investigate her human leukocyte antigen (HLA) class II polymorphism, we extracted DNA from a bone sample and a tooth and genotyped HLA using three HLA-tagging single nucleotide polymorphisms for DQ8, DQ2.2 and DQ2.5, specifically associated to CD. She displayed HLA DQ 2.5, the haplotype associated to the highest risk of CD. This is the first report showing the presence of a HLA haplotype compatible for CD in archaeological specimens.

Full report on open access.

ilmari
10-07-2012, 11:31 PM
The link, above was somehow not working for me. Here is the link to the paper if others have the same issue:

http://www.wjgnet.com/1007-9327/pdf/v18/i37/5300.pdf

Ezana
10-08-2012, 12:07 AM
Wow, awesome find, Jean!


The link, above was somehow not working for me. Here is the link to the paper if others have the same issue:

http://www.wjgnet.com/1007-9327/pdf/v18/i37/5300.pdf

Yes, I had the same problem. Thanks.

DMXX
10-08-2012, 02:09 AM
Celiac disease (complete gluten intolerance) is one very overt manifestation of some individuals not being genetically "equipped" to handle the digestion of a key protein group (prolamins) that is typically found in the grains associated with the W. Eurasian neolithic revolution.

From an epidemiological POV, my basic understanding is that most modern humans sit somewhere in the middle of a no<->complete gluten intolerance but those with the HLA-DQ mutation described here sit firmly towards the right of that spectrum.

It would be interesting to see from a W. Eurasian perspective whether the genes were selected over time.

Jean M
10-08-2012, 09:34 AM
Sorry about the link problem. I used the DOI and must have made a mistake. Fixed.

Human
10-09-2012, 12:46 AM
From an epidemiological POV, my basic understanding is that most modern humans sit somewhere in the middle of a no<->complete gluten intolerance but those with the HLA-DQ mutation described here sit firmly towards the right of that spectrum. .

That would be me (HLA DQ 2.5). Although there may have been problems when I was young that I didn't notice, wheat, barley, and rye are like poison to me now. HLA testing was performed by my gastroenterologist, and 23andme got it right. rs2187668 is indeed an accurate SNP to check for this HLA type at 23andme.

DMXX
01-05-2013, 10:53 AM
That would be me (HLA DQ 2.5). Although there may have been problems when I was young that I didn't notice, wheat, barley, and rye are like poison to me now. HLA testing was performed by my gastroenterologist, and 23andme got it right. rs2187668 is indeed an accurate SNP to check for this HLA type at 23andme.

If I remember correctly, approximately 70% of all adults in the US have some degree of gluten intolerance. Besides, the layperson medic-speak about eating grains "causing gut inflammation" has to come from somewhere.

Tied that in with this thread's title, I would say gluten intolerance is still very much the norm of humanity given the domestication of grains happened very recently (~11kya). In the grand scheme of things, this is quite a new development in humanity's history.

As a species, we clearly haven't positively selected for it just yet. One can question whether that long process is even necessary given the rise in gluten-free products on consumer shelves. We're continuing to do a pretty good job at making the environment suit us, at least from a bio-medical POV.