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Y-chromosome variation in the Pyrenees

Below is a map and some interesting results from a y-chromosome study of the Pyrennees

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One of the most interesting findings of this study was the

very high frequency of R1b1b2d in all Pyrenean samples

except Cinco Villas. In this last population, R1b1b2d was

just carried by one individual, which in fact agrees fairly well

with the general distribution of the haplogroup in Iberians.

In Europe, the mutation defining the subclade R1b1b2d –

SRY2627 (synonymous of M169) is a relatively rare variant

within R1b1b2, being commonly assumed to be typical of

Iberian populations. Nearly everywhere in the Peninsula it

occurs at 2–7% frequency and up to now the highest values

have been found in the North East corner, namely among

Basques (4–11%, Maca-Meyer et al. 2003, Hurles et al. 1999)

and Catalans (22%, Hurles et al. 1999). Frequencies of 13% in

Jacetania, 18% in Alto Urgel, 19% in Cerda˜na and especially

of 48% in Valle de Ar´an, can be found in nearby regions

which have never been observed before.

MtDNA haplogroups and Osteoarthritis

The MMP-13 was the only biomarker significantly increased in
OA patients, when compared with healthy controls, in both mtDNA haplogroups
H and J (p<0.001). Type II collagen biomarkers such as Coll2-1,
Coll2-1NO2, Coll2 ratio, C2C, CPII and C2C:CPII ratio were significantly
increased in OA patients that carry the mtDNA haplogroup H when compared
with OA carriers of the mtDNA haplogroup J (p<0.01 in all cases).
Two logistic regression models for diagnosis, adjusted for age, gender and
smoking status, were constructed. For haplogroup H, the regression model
obtained showed that the biomarkers significantly associated with OA were
hyaluronic acid and C2C:CPII; the area under the curve (AUC) of the ROC
curve for this model was 0.926 (95% CI=0.857-0.995) and the optimal probability
cutoff for discriminate between OA and healthy controls was 0.269,
with a sensitivity of 96%, a specificity of 78%, and a positive likelihood
ratio of 4.3. For haplogroup J, the biomarkers significantly associated with
OA were MMP-13, MMP-3 and C2C; the AUC for this model was 0.880
(95% CI=0.782-0.978), and the optimal probability cutoff for discriminate
between OA patients and healthy controls was 0.271, with a sensitivity of
96%, a specificity of 68%, and a positive likelihood ratio of 3.

source

Ancient tourism to Stonehenge?

The boy with the amber necklace has been suggested to be of European Mediterranean origin.

The new evidence shows that ‘the Boy with the Amber necklace’ spent his childhood in a warm climate typical of Iberia or the Mediterranean. Such warm oxygen values are theoretically possible in the British Isles but are only found on the extreme west coast of South West England, western Ireland and the Outer Hebrides. These areas can be excluded as likely childhood origins of his on the basis of the strontium isotope composition of his teeth  1.  

Y Haplogroups and Aggressive Behavior

Below is the abstract of an interesting article about the possible association between y-chromosome haplogroups and aggressive behavior.  Intriguingly, haplogroups R1a1 and R2 were shown to have a medium and significantly lower aggression score then haplogroups H,L and J respectively .  
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Y Haplogroups and Aggressive Behavior in a Pakistani Ethnic Group
: : : : : : : : : : : : : : : : : : : : : : : : : : : : : : : : : : : : : : : : :
Studies show that personality dimensions such as aggression are influenced by genetic factors and that allelic variants located on the Y chromosome influence such behavior. We investigated polymorphisms on the male-specific region of the human Y chromosome in 156 unrelated males from the same ethnic background, who were administered the Punjabi translation of the Buss and Perry Aggression Questionnaire that measures four aspects that constitute aggressive behavior, i.e. physical aggression, verbal
aggression, anger, and hostility. A value of .85 for Cronbach’s coefficient a indicates considerable internal consistency and suggests that the psychometric properties of the aggression questionnaire can be adapted for the Pakistani population. A mean score7SD of 69.70719.95 was obtained for the questionnaire. Each individual was genotyped following a phylogenetic hierarchical approach
to define evolutionary Y haplogroups. Five Y haplogroups that are commonly found in Eurasia and Pakistan comprised 87% (n5136) of the population sample, with one haplogroup, R1a1, constituting 55% of the sampled population. A comparison of the total and four subscale mean scores across the five common Y haplogroups that were present at a frequency Z3% in this ethnic
group revealed no overall significant differences. However, effect-size comparisons allowed us to detect an association of the haplogroups R2 (Cohen’s d statistic5.448–.732) and R1a1 (d5.107–.448) with lower self-reported aggression mean scores in this population. Aggr. Behav. 35:68–74, 2009. r 2008 Wiley-Liss, Inc.

Y-chromosome strs of Tajiks from Ferghana.

 Below are the y-chromosome strs of all the Ferghana Tajiks studied under Genetic diversity and the emergence of ethnic groups in Central Asia.


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[Profile]
 Title="Central Asia project_controlsLuissamples439&389Ichanged"
 #"388 392 389I 19 390 391 393"

SampleName="TJK-EH"
( South Ferghana Valley)   SampleSize=35
   SampleData={
TJ1C    1   12  17  14  15  23  10  13
TJ2P    1   12  17  14  15  23  10  13
TJ3P    1   12  13  13  13  25  10  13
TJ4P    1   12  17  13  15  23  10  13
TJ5C    1   12  16  13  16  23  10  12
TJK1    1   12  12  13  16  26  11  13
TJK2    1   13  15  14  13  22  10  13
TJK3    1   12  11  13  16  24  11  13
TJK4    1   12  15  13  16  22  10  12
TJK5    1   12  13  13  13  24  10  13
TJK6    1   12  17  14  15  23  10  13
TJK7    1   13  15  14  13  22  10  13
TJK8    1   12  14  14  13  23  10  13
TJK9    1   12  14  14  13  23  10  13
TJK10   1   12  13  13  13  24  10  13
TJK11   1   12  13  13  13  23  10  12
TJK12   1   12  15  13  15  22  10  12
TJK13   1   12  11  14  15  25  11  13
TJK14   1   12  15  14  15  23  12  14
TJK15   1   12  11  13  15  25  11  13
TJK16   1   12  13  13  13  25  10  13
TJK17   1   12  11  14  15  25  11  13
TJK18   1   12  14  14  13  23  10  13
TJK19   1   13  15  13  13  22  10  12
TJK20   1   13  11  13  15  24  10  13
TJK21   1   12  13  13  13  25  10  13
TJK22   1   12  11  14  15  25  11  13
TJK23   1   12  11  14  15  25  11  13
TJK24   1   12  13  13  14  24  10  12
TJK25   1   13  15  14  13  22  10  13
TJK26   1   12  11  13  15  25  11  13
TJK27   1   12  14  14  13  23  10  13
TJK28   1   17  11  13  14  23  11  12
TJK29   1   12  11  13  16  24  11  13
TJK30   1   12  14  14  13  23  10  13
 } 

   SampleName="TJR-EH" ( West Ferghana Valley)
   SampleSize=29
   SampleData={
TJR1    1   12  11  12  15  25  11  13
TJR2    1   14  11  13  16  25  10  13
TJR3    1   13  11  13  15  22  10  15
TJR4    1   12  13  12  15  24  11  12
TJR5    1   12  10  14  15  25  10  13
TJR6    1   15  11  13  14  23  10  12
TJR7    1   12  14  12  14  22  10  11
TJR9    1   12  10  12  14  23  10  14
TJR10   1   10  14  12  14  23  10  12
TJR11   1   16  11  13  14  23  10  13
TJR12   1   12  12  13  14  23  10  13
TJR13   1   12  14  13  14  23  10  14
TJR14   1   12  10  12  14  23  10  14
TJR15   1   12  11  12  15  22  10  14
TJR16   1   12  11  12  15  22  10  14
TJR18   1   12  11  12  15  22  10  14
TJR19   1   15  11  13  15  23  10  12
TJR20   1   12  11  13  16  25  11  13
TJR21   1   12  13  13  14  24  10  12
TJR22   1   12  13  14  14  19  10  13
TJR23   1   12  10  13  13  23  10  13
TJR24   1   12  10  14  15  25  10  13
TJR25   1   12  16  14  14  23  11  14
TJR26   1   12  11  13  16  25  11  13
TJR27   1   12  11  13  17  25  11  13
TJR28   1   12  10  13  15  22  10  15
TJR29   1   12  13  13  13  25  10  13
TJR30   1   12  11  13  15  25  11  13
TJR31   1   12  11  12  15  22  10  14
 }

Another mistake in a scientific journal dealing with human genetics:

A particular article by the name of Mitochondrial DNA Diversity in Indigenous Populations of the Southern Extent of Siberia, and the Origins of Native American Haplogroups  has incorrectly labeled a sibling of M8a as haplogroup S and this information was subsequently copied in Genetic diversity of two haploid markers in the Udegey population from southeastern Siberia.  Apparently this error has given rise to scientific misinformation and could of easily started a  false rumor that a special genetic link exists between the Australians and the Siberians. Obviously it is important that we carefully read and review any particular scientific paper before making any unusual conclusions.