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  • Jefferson Adams

    Celiac Disease Linked to Neanderthal Ancestry

    Jefferson Adams
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    Reviewed and edited by a celiac disease expert.

      One of these Neanderthal-inherited haplotypes is unusually long and harbors variants that affect the expression of members of the CCR gene family and are associated with celiac disease.

    Image: CC--Allan Henderson
    Caption: Image: CC--Allan Henderson

    Celiac.com 04/25/2019 - Part of our modern human DNA contains genetic material from a number of what scientists call 'admixture' events, or, more simply, mingling of DNA from Neanderthals that of different populations. Approximately 2–4% of genetic material in human populations outside Africa comes originally from Neanderthals who interbred with anatomically modern humans. 

    Researchers have hypothesized that the first such events likely occurred in Western Asia shortly after humans migrated out of Africa. However, previous studies show lower Neanderthal introgression rates in some Western Asian populations compared with other Eurasian populations. 

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    A team of researchers recently set out to better understand the genome-wide and phenotypic impact of Neanderthal introgression in the region. Their research reveals, among other things, that the genes associated with celiac disease are inherited from our Neanderthal ancestors.

    The research team included Recep Ozgur Taskent, Nursen Duha Alioglu, Evrim Fer, Handan Melike Donertas, Mehmet Somel and Omer Gokcumen. They are variously affiliated with the Department of Biological Sciences, University at Buffalo; the Department of Biology, Middle East Technical University, Ankara, Turkey; and the European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK.

    To do so, the team sequenced complete genomes of nine present-day Europeans, Africans, and the Western Asian Druze at high depth. They then analyzed genome data from other populations, including 16 genomes from present-day Turkey. 

    The team confirmed the depletion of what are thought to be functional sequences among Neanderthal-introgressed haplotypes. 

    The team's results confirm those of earlier studies that show modern Western Asian populations, on an average, have lower levels of Neanderthal-mingled DNA relative to other Eurasian populations. A number studies have looked at the effects of Neanderthal alleles in non-Neanderthal populations. Some indicate negative effects, with putative links to various diseases as measured by genome-wide association studies (Sankararaman et al. 2014. Simonti et al. 2016).

    For example, according to the researchers: "One of these haplotypes is unusually long and harbors variants that affect the expression of members of the CCR gene family and are associated with celiac disease." Since the genome-wide association studies show that celiac disease is linked with the Neanderthal haplotype, we may have to thank our neanderthal cousins for this disease. 

    Stay tuned for more on the implications of Neanderthal DNA on disease susceptibility in western and other populations.

    Read more at: Genome Biol Evol. 2017 Dec; 9(12): 3516–3524doi: 10.1093/gbe/evx216

    Edited by Jefferson Adams

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    8 hours ago, Ronnie d said:

    :Dhmm, that explains why I always have the urge to grab a club and bang something with it......lol

    Ha Ha, now that is funny! However, I wonder if only one member out of a family of six is diagnosed with Celiac Disease...does that mean not everyone in the same family has this Neanderthal Haplotype but just me?

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    On 5/7/2019 at 8:08 PM, Guest Marcia C. said:

    Ha Ha, now that is funny! However, I wonder if only one member out of a family of six is diagnosed with Celiac Disease...does that mean not everyone in the same family has this Neanderthal Haplotype but just me?


    15 hours ago, Guest Lynn H said:

    Good question, Marcia C.  Any replies?



    Genes are inherited in clumps due to how DNA is transcribed, so even siblings will have or not have clumps of DNA that the other doesn't. Also, some celiacs express their degree of celiac differently. I showed the signs earlier than my siblings, but my surviving brother has just been diagnosed at 60, where I was at 49. Many of my auto-immunity diseases went into remission once I stopped eating gluten and other grains,  and I also stick with an organic diet. 

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  • About Me

    Jefferson Adams is Celiac.com's senior writer and Digital Content Director. He earned his B.A. and M.F.A. at Arizona State University, and has authored more than 2,500 articles on celiac disease. His coursework includes studies in science, scientific methodology, biology, anatomy, medicine, logic, and advanced research. He previously served as SF Health News Examiner for Examiner.com, and devised health and medical content for Sharecare.com. Jefferson has spoken about celiac disease to the media, including an appearance on the KQED radio show Forum, and is the editor of the book "Cereal Killers" by Scott Adams and Ron Hoggan, Ed.D.

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