Haplogroup H and Sepsis

There's an interesting article about haplogroup H members having an increased chance of surviving sepsis (blood poisoning) on Mathilda's Anthropology blog.

MtDNA haplogroup H was a strong independent predictor of outcome during severe sepsis, conferring a 2.12-fold (95% CI 1.02-4.43) increased chance of survival at 180 days compared with individuals without the haplogroup H.

You can read more about this study here.

Everything Known About Haplogroup H

The title says it all, All About Haplogroup H, from Mathilda's Anthropology Blog. This is an article that pulls together what is know about Haplogroup H all in one place. Lot of colorful diagrams too. A bit more scientific than I like but you'll find it helpful none the less.

A Series of Articles on Haplogroup H

Here's one of the most in depth series of articles on Haplogroup H I've come across. It's called "The mtDNA and it's role in Ancestry" from The Genebase Blog. The first 9 articles are about genetic genealogy in general and would be of interest to those of any haplogroup. The last 7 articles will be of particular interest to those in Haplogroup H.

Click here to view mtDNA Part I
Click here to view mtDNA Part II
Click here to view mtDNA Part III
Click here to view mtDNA Part IV
Click here to view mtDNA Part V
Click here to view mtDNA Part VI
Click here to view mtDNA Part VII
Click here to view mtDNA Part VIII
Click here to view mtDNA Part IX

Click here to view mtDNA Part X (mtDNA subclades)
Click here to view mtDNA Part XI (mtDNA Haplogroup H)
Click here to view mtDNA Part XII (Subclades of haplogroup H)
Click here to view mtDNA Part XIII (Distribution of subclades of H)
Click here to view mtDNA Part XIV (Descendents of Maria-Theresa)
Click here to view mtDNA Part XV (Luke the Evangelist)
Click here to view mtDNA Part XVI (Empress Feodorovna)

Web Site Review: Mathilda's Anthropology Blog

In my quest to learn more about my deep ancestry I've discovered that anthropology blogs provide a nice resource for information on the life and times of those who lived in Europe a very long time ago.

Lately I've been reading Mathilda's Anthropology Blog with great interest. Mathilda had a fascinating article (reprinted) last month titled, "How To Lose a Mitochondrial DNA Lineage". "The study sought to answer the crucial question of whether Europeans descended from the first European farmers of the Neolithic period 7500 years ago, or from Paleolithic hunter-gatherers who were present in Europe since 40,000 years ago." Here's one place where hg H comes into the discussion:

Haplogroup H, hypothesized to have been present in Europe since at least the late Paleolithic and the most common haplogroup among present-day Europeans (approximately 50%) and Basque (62%), was also found at a high frequency of 48% among the historical remains at Aldaieta, but at lower frequencies at the prehistoric sites (37% at SJAPL and Rico Ramos, 44% at Longar). This variation suggests that there was heterogeneity between the various prehistoric communities themselves, with some communities having a higher frequency of certain haplogroups than others. (Alzualde 2005)

Other haplogroups are discussed here as well, some in more detail than others. While this particular article doesn't disclose any great revelations about hg H it does provide an interesting look at what can be deduced about various groups from studying the DNA of ancient skeletal remains.

Mathilda has some wonderful photos to go along with many of her articles to show the types of artifacts my ancestors may have used. One article in particular that I found really interesting was, Cro-Magnon Clothing. The findings discussed here come from sites in the Czech Republic, a next door neighbor to Poland. And while there is no specific mention of hg H the time and place make it possible that these artifacts could have been created by members of hg H.

Anthropology may just be the link I was looking for... connecting genetics to ancient history to give me a picture of the life my ancestors led thousands of years ago. Mathilda's site makes for interesting reading. I recommend you check it out :-)

Is There a Connection Between Haplogroup H and Alzheimers Disease?

I came across an abstract posted earlier this month that has me wondering, "What's up with this?" Evidently there are some researchers who are looking for a possible connection between Alzheimer's Disease and the various haplogroups. Haplogroup H is mentioned as is cluster HV (Is that a subclade?). I'm not sure what they concluded from their research but you can read the abstract here:

Mitochondrial haplogroup H and Alzheimer's disease—Is there a connection?
Neurobiology of Aging, In Press, Corrected Proof, Available online 4 March 2008,
Aleksandra Maruszak, Jeffrey A Canter, Maria Styczyńska, Cezary Żekanowski and Maria Barcikowska View Abstract (specifically mentions hg H)

Additional research abstracts I found on the subject are:

Analysis of European mitochondrial haplogroups with Alzheimer disease risk
Neuroscience Letters, Volume 365, Issue 1, 15 July 2004, Pages 28-32
Joelle M. van der Walt, Yulia A. Dementieva, Eden R. Martin, William K. Scott, Kristin K. Nicodemus, Charles C. Kroner, Kathleen A. Welsh-Bohmer, Ann M. Saunders, Allen D. Roses, Gary W. Small, Donald E. Schmechel, P. Murali Doraiswamy, John R. Gilbert, Jonathan L. Haines, Jeffery M. Vance and Margaret A. Pericak-Vance View Abstract (specifically mentions hg H)

Lack of association between mtDNA haplogroups and Alzheimer's disease in Tuscany.

Neurol Sci. 2007 Jun;28(3):142-7. Epub 2007 Jun 30. Mancuso M, Nardini M, Micheli D, Rocchi A, Nesti C, Giglioli NJ, Petrozzi L, Rossi C, Ceravolo R, Bacci A, Choub A, Ricci G, Tognoni G, Manca ML, Siciliano G, Murri L. View Abstract

Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies.

Neurology. 2000 Jul 25;55(2):302-4. Chinnery PF, Taylor GA, Howell N, Andrews RM, Morris CM, Taylor RW, McKeith IG, Perry RH, Edwardson JA, Turnbull DM. View Abstract (Specifically mentions hg H)

Do haplogroups H and U act to increase the penetrance of Alzheimer's disease?

Cell Mol Neurobiol. 2007 May;27(3):329-34. Epub 2006 Dec 21. Fesahat F, Houshmand M, Panahi MS, Gharagozli K, Mirzajani F.

"We could find that haplogroups H and U are significantly more abundant in AD patients (P = 0.016 for haplogroup H and P = 0.0003 for haplogroup U), Thus, these two haplogroups might act synergistically to increase the penetrance of AD disease." View Abstract (Specifically mentions hg H)

I must admit that I don't understand the content of most of these abstracts, except the last one. It sounds like in that study they are saying that they found more members from haplogroups H and U in the group of Alzheimer's patients they studied. I'm not sure what "penetrance of AD disease" means.

I don't know what to make of all these articles. The fact that there are multiple research teams looking for a possible connection between haplogroups and Alzheimer's Disease, with hg H coming up repeatedly in the literature, makes me tend to think that they suspect there is some kind of connection there but they haven't figured out what the connection is. Or maybe they have and I just can't figure it out from the way they're presenting it ;-)

Interestingly, late onset Alzheimer's Disease runs in my maternal line, those that carry my same mtDNA. My mother and her sister both had it in their mid 80s. My maternal grandmother died at age 70 from complications of diabetes but her sister, my maternal grandaunt, had AD in her early 90s.

What are your thoughts? Do you know of any AD in your mtDNA line?

Book Review: Trace Your Roots With DNA

Trace Your Roots With DNA by Megan Smolenyak Smolenyak is a nice book for an overview of the field of genetic genealogy testing. It goes into detail describing the process of DNA testing and discusses what you can expect to learn from Y-DNA and mtDNA testing. Beyond that, Megan has a nice section on starting a group project and has information about where you can locate others in your same haplogroup or surname. Lots of good information here.

My Opinion: Here's another good overview book that is successful at reducing the sci-cho babble to genealogy-speak. It's a book genealogists will be able to understand without running for the dictionary. For me the most interesting parts of her book were specific cases where DNA testing was used to validate relationships, especially with mtDNA which is typically not thought to be used as such.

What's to be learned about haplogroup H: Unfortunately, nothing.

This Is The Kind of Information Genealogists Want About Their mtDNA...

In his article, Blah, Blah, Blah on his blog The Latest in Meandering Thought..., Brian Miller writes about recently receiving his mtDNA test results. He didn't get much information about haplogroup H so you won't learn anything new from reading his post. But he did share a good bit of what I thought was fascinating information about his Y-DNA haplogroup Q. I mention this only because it's a good example of the kind of information that I think genealogists would appreciate getting when they receive their test results.

But today I found a little piece of information that I found interesting, if for no other reason than that it was personally interesting. I discovered an article that stated that the predominant haplogroup Q population is from northern Eurasia and is mongoloid in physical traits, versus caucasoid which is predominantly of European descent. Mongoloids are distinguished by "non-projecting noses, flat faces formed by forward projecting cheekbones, round eye orbits, shovel-shaped incisors, and complex cranial sutures, flattened chins, elliptic dental archs and brachycephalic (short and broad) skulls". Hm. The article went on to discuss... [More]

I get that this group is much smaller than hg H and that H's members may not have definable physical features like this group so I'm not thinking that this very same type of information is necessarily available for hg H. But I do think that this is substantive information that a genealogist might want to include as part of a chapter on DNA in their published family history.

If anyone from any of the genealogy testing companies happens to be reading this, please take my request to heart. I'm asking you to consult with the anthropology departments from a couple of different universities and see what can be said about those who migrated to Europe from the Middle East 20,000-30,000 years ago and share it with us. Not everyone wants to use mtDNA as a tool to determine ancestry. Many of us just want to know what life was like for our mitochondrial cousins of yesteryear without having to major in anthropology.

And another thing... What about the gene mutation for blue eyes... didn't that happen about 20,000 years ago too? Could it be that our "Helena" was the first blue-eyed mutant? Hmmm? Has anyone thought about that? Well... get busy and investigate! LOL!

OK. I'll get down off my soapbox and we can return to our regularly scheduled program.