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Surprises in English and Irish DNA

Sunday, May 22, 2011

Over a year ago, there appeared one of the few studies of autosomal DNA in Ireland and Britain. If you have English/Welsh, Irish, northern Irish, Highlands Scottish, Lowlands Scottish or Swedish matches, you will want to read this post. Here is the original article and abstract.

Eur J Hum Genet. 2010 Nov;18(11):1248-54. Epub 2010 Jun 23.

Population structure and genome-wide patterns of variation in Ireland and Britain.

Abstract

Located off the northwestern coast of the European mainland, Britain and Ireland were among the last regions of Europe to be colonized by modern humans after the last glacial maximum. Further, the geographical location of Britain, and in particular of Ireland, is such that the impact of historical migration has been minimal. Genetic diversity studies applying the Y chromosome and mitochondrial systems have indicated reduced diversity and an increased population structure across Britain and Ireland relative to the European mainland. Such characteristics would have implications for genetic mapping studies of complex disease. We set out to further our understanding of the genetic architecture of the region from the perspective of (i) population structure, (ii) linkage disequilibrium (LD), (iii) homozygosity and (iv) haplotype diversity (HD). Analysis was conducted on 3654 individuals from Ireland, Britain (with regional sampling in Scotland), Bulgaria, Portugal, Sweden and the Utah HapMap collection. Our results indicate a subtle but clear genetic structure across Britain and Ireland, although levels of structure were reduced in comparison with average cross-European structure. We observed slightly elevated levels of LD and homozygosity in the Irish population compared with neighbouring European populations. We also report on a cline of HD across Europe with greatest levels in southern populations and lowest levels in Ireland and Scotland. These results are consistent with our understanding of the population history of Europe and promote Ireland and Scotland as relatively homogenous resources for genetic mapping of rare variants.

Though the focus was on genome-wide association studies (GWAS) and linkage disequilibrium, or medical aspects of DNA, this study was groundbreaking in using supercomputing and has enormous implications for the history of the British Isles. It used data from over 3,000 individuals from seven populations:

1. Ireland/Dublin

2. Scotland/Aberdeen

3. Bulgaria

4. Portugal

5. Sweden

6. South/Southeast England

7. Utah

Data came from several sources:  the International Schizophrenia Consortium, Wellcome Trust Cast Control Consortium 1958 Birth Control Data set, Utah European ancestry population (CEU) and HapMap project.

The study aimed to describe, statistically, four measures of the Irish and English populations: 

1. Population structure

2. Linkage disequilibrium, with consequences for the study of common Irish and English genetic disorders

3. ROH, or runs of homozygosity, essentially a reflection of inbreeding and the remoteness of a population

4. Haplotype diversity (based on SNPs in atDNA)

The main conclusion was that Irish/English formed a separate and unique population since the Ice Age very different from either Bulgarian (SE Europe) or Portuguese (SW Europe), with great affinities to Sweden or Scandinavian populations (p. 1250). For instance, "the breakdown and patterning of LD [linkage disequilibrium] ... is virtually indistinguishable among the Irish, Scottish, southern English, Swedish..." (p. 1250).

"Diversity across Britain and Ireland is reduced in comparison with mainland European populations, with Scotland and Ireland having lower levels than southern England (p. 1251)."

The study postulates that Irish and English proneness to genetic disease came about as a result of population stasis or unchanging conditions. The agricultural revolution swept in a lot of additions to the gene pool in most of Europe, including Southeast England, but in areas like Ireland, Scotland and Sweden the same population stayed on the land with little increase, in fact with a negative effect during the Norse migrations of the 10th century and the Irish Potato Famine. The study mentions a "kinship effect" apparent in Irish and Scottish clan histories (p. 1254).

The surprising suggestion is that there will now be a groundswell of research into "Irish" and "Scottish" and "English" diseases comparable to Jewish diseases.

A related study is:

A. Auton, K. Bryc, A. Boyko, K. Lohmueller, J. Novembre, A. Reynolds, A. Indap, M. H. Wright, J. Degenhardt, R. Gutenkunst, K. S. King, M. R. Nelson and C. D. Bustamante, Global distribution of genomic diversity underscores rich complex history of continental human populations, Genome Research, February 2009. Abstract.

Comments

Stephanie Hayward commented on 27-May-2011 09:15 AM

I am reading the book "When Scotland was Jewish" and am also doing research on the mythical Milesians. Was wondering if this mythical Irish group had ever come up in your discussions. It is said they were descended from Jewish line and I started making
a connection by what is outlined in your book. By the way, the book is great! Stephanie

Teresa Panther-Yates commented on 08-Jun-2011 03:12 PM

How interesting! The Milesians are thought to be one of the mythical populations that started Ireland. They are thought to be Middle-Eastern and from Spain, but this population is not in the book and has not come up. Thank you for this adding this observation.
Teresa P. Yates

Brian Costello commented on 19-Jul-2012 11:39 PM

I can believe that Scots and English have some genetic relationship to the populations of Sweden and / or Norway. They look basically Germanic. However, the Irish are not a Germanic people at all and therefore must descend from a different gene pool, and
I don't think it is one from Spain either.


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Neanderthal Uralic Connection

Thursday, May 12, 2011

Did Neandertals Linger in Russia's Far North?

By Michael Balter

Science 13 May 2011:
Vol. 332 no. 6031 p. 778
DOI: 10.1126/science.332.6031.778

For more than 150,000 years, Neandertals had Europe's lush river valleys to themselves. Then, beginning about 40,000 years ago, modern humans swept in from Africa and the Near East, spreading rapidly from east to west. Soon, the archaeological evidence suggests, the Neandertals retreated to “refugia” in southern Europe, such as Spain and Portugal—their last holdouts before going extinct.

Or were they? On page 841, a research team claims that some of the last Neandertals may have taken refuge in the dark Arctic north rather than the sunny south. At the 32,000-year-old site of Byzovaya in Russia's Polar Ural Mountains, which at 65 degrees latitude is as far north as Iceland, archaeologists found stone tools they argue are typical of those long associated with Neandertals in Europe...

Read abstract.

Note: This may explain why Finno-Uralic is one of the strong contributors to a high score on our Neanderthal Index.

Byzovaya Cave in Russia's Polar Ural Mountains with Neanderthal artifacts.


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Autosomal Testing for Native Americans

Tuesday, May 10, 2011

If you think haplogroup testing for Native American DNA is in sad shape, you should look at autosomal testing. It has been practically nonexistent. Even the major 2007 study by Wang et al. has glaring gaps and methodological quandaries(1).

DNA Consultants' newest autosomal product is the Native American DNA Fingerprint Plus based on 21 published studies of Native American population groups as well as informal customer data. Results for many individuals were validated with older haplotyping methodology.

There were data for 3,583 Native Americans available in development of the product. These test results came from articles published between 1997 and 2009. They included individuals identifying with tribes or nations as follows:

Apache
Athabaskan
Huichol
Inupiat
Kichwa
Lumbee
Navajo
Salishan
Yupik
The following geographical areas were represented:

Alaska
Arizona
Brazil
British Columbia
Colombia
Ecuador
Florida
Guatemala
Mexico
Michigan
Minnesota
North Carolina
Oklahoma
Ontario
Saskatchewan

Nothing labeled as Cherokee -- the largest Native group in the U.S., with more than 400,000 representatives -- has ever been tested. Anecdotally, people of Cherokee descent often receive matches to North Carolina or Michigan Native Americans. The reason for the latter matchup is obscure. North Carolina as the Cherokee's original homeland makes a lot more sense.

  1. Wang, S. et al. (2007). “Genetic Variation and Population Structure in Native Americans.” PLoS Genetics 3/11 (with good bibliog.):  http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.0030185.
Comments

Brian Wilkes commented on 02-Jun-2011 06:41 PM

According to a Michigan Tuscarora genealogist I spoke with, many of the Native communities in Michigan with any significant blood quanta turned out to have taken in a large number of Cherokees. The belief is that these Cherokees went north during and after
the Great Depression to seek work in Michigan's industries, and married into local native communities. Michigan was also one end of the annual trade route of the Tihanama nation, a route that crossed the Cherokee country east of Nashville. It's save to assume
hospitality was extended in the South, and that some Cherokees returned north. This is one of many questions of Cherokee history that deserves more study. Brian Wilkes, Marion, KY


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Validation Notes on Jewish Markers

Saturday, May 07, 2011

This posting will review some of the material we have previously made available about the science behind our three Jewish markers in the autosomal 18 Marker Ethnic Panel. First, it may be worthwhile to recount the chronology of our testing innovations in this area.

2006 - DNA Consultants introduces the DNA Fingerprint Test, one of the first simple autosomal ancestry tests based on population databases

2009 -Donald N. Yates, Ph.D., principal investigator, makes the discoveries in July that lay the foundation for the DNA Fingerprint Plus, rolled out in early September. The enhanced product includes simple autosomal markers for Native American, European, Jewish, Asian and African ancestry, based upon their frequencies of occurrence in these ethnicities.

2010 - Several important studies on Jewish genetics appear; DNA Consultants introduces Jewish DNA Test

2011 - DNA Consultants releases version 2.0 of its autosomal population database atDNA, marking the addition of the population Melungeon (n=40).

One of the first of the Jewish markers to be blogged about was Jewish II, characteristic of Ashkenazi Jews. Theodor Herzl, the nineteenth-century Austro-Hungarian Zionist thinker-organizer who helped inspire the founding of the State of Israel, is an example of a famous Ashkenazi Jew. There was another post titled Jewish Marker II Statistical Notes.

A post on Jewish I soon followed, together with a discussion about its European connections. There has been an ongoing discussion on the Jewish Forum on DNA Communities.

Jewish III has been the slowest to emerge. Its Middle Eastern nature has been explored and expanded upon in several threads on DNA Communities.

In the Fall of 2010, our project administrator tabulated results for more than 450 people who had ordered a Jewish Ancestry Test through our partner Jewish Voice. It was found that 99.97% showed at least one Jewish marker, that is, had some Jewish ancestry.  Some had all three markers while others had a combination of the three in some way.  The informal study indicated 74% of Jewish Ancestry Test takers had Jewish I, 30% had Jewish II and 82% Jewish III.



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