Adrian Odriozola

The maternal legacy of Basques in northern navarre: New insights into the mitochondrial DNA diversity of the Franco-Cantabrian area.

Autochthonous Basques are thought to be a trace from the human population contraction that occurred during the Last Glacial Maximum, based mainly on the salient frequencies and coalescence ages registered for haplogroups V, H1, and H3 of mitochondrial DNA in current Basque populations. However, variability of the maternal lineages still remains relatively unexplored in an important fraction of the Iberian Basque community. In this study, mitochondrial DNA diversity in Navarre (North Spain) was addressed for the first time. To that end, HVS-I and HVS-II sequences from 110 individuals were examined to identify the most relevant lineages, including analysis of coding region SNPs for the refinement of haplogroup assignment. We found a prominent frequency of subhaplogroup J1c (11.8%) in Navarre, coinciding with previous studies on Basques. Subhaplogroup H2a5, a putative autochthonous Basque lineage, was also observed in Navarre, pointing to a common origin of current Basque geographical groups. In contrast to other Basque subpopulations, comparative analyses at Iberian and European scales revealed a relevant frequency of subhaplogroup H3 (10.9%) and a frequency peak for U5b (15.5%) in Navarre. Furthermore, we observed low frequencies for maternal lineages HV0 and H1 in Navarre relative to other northern Iberian populations. All these findings might be indicative of intense genetic drift episodes generated by population fragmentation in the area of the Franco-Cantabrian refuge until recent times, which could have promoted genetic microdifferentiation between the different Basque subpopulations.

Mitochondrial DNA control region variation in an autochthonous Basque population sample from the Basque Country.

Mitochondrial control region (16024-576) sequences were generated from 106 samples from autochthonous Basques from the Autonomous Community of the Basque Country. It is especially important to generate mtDNA databases from isolated populations in order to maximize the power of discrimination of this molecular marker. It also represents a useful approach to carry out a more accurate haplogroup classification. This is the first database report of complete control region sequences in an autochthonous Basque population sample. Strict selection criteria of autochthonous individuals, automation of laboratory processing and independent reviews of the raw electropherograms ensure the high quality of these sequences and their utility as reference population data of the autochthonous Basque population.

Quality standards in Biobanking: authentication by genetic profiling of blood spots from donor's original sample

The field of Biobanking requires extensive work to maintain traceability of samples. However, sometimes the necessity to authenticate a sample may arise. To address these circumstances, we herein present a method for authenticating derivatives by using a blood spot from each donor, attached to a sample authentication form, by means of genetic profiling. Blood spots are collected at the time a blood sample is donated at a health centre and before processing the blood sample at the biobank. To test the validity of our approach over time, we analyzed 26 blood spots stored at room temperature in our facilities for more than 15 years. DNA was successfully extracted from the three storage materials tested in this study and 15 STR markers plus amelogenin were subsequently analyzed. The storage of a small blood spot attached to a sample authentication form proved to be efficient for genetic profiling and, therefore, may constitute a long-lasting (at least 15 years), cost-effective and effortless approach for genetic authentication of samples in biobanks.

Variability of the Entire Mitochondrial DNA Control Region in a Human Isolate from the Pas Valley (Northern Spain)

Abstract:  In this study, we analyzed the entire mtDNA control region in 61 unrelated individuals from the Pas Valley (Cantabria), a human isolate from northern Spain, to evaluate the suitability of this analysis to increase the power of discrimination of this locus for forensic purposes in human isolates. Low values obtained for the diversity parameters confirmed the relative isolation of this human group. The main findings of this study indicated that even the analysis of the entire mtDNA control region may have important limitations for use in forensic casework when dealing with human isolates: none of the 44 individuals who exhibited identical HVI‐HVII haplotypes could be further differentiated by analysis of segment HVIII. Nevertheless, analysis of the entire mtDNA control region proved to be useful to determine the ancestry of the samples examined, by contributing to the confirmation, and, on occasion, even to the refinement of the haplogroup assignment.

Y-STR variation in the Basque diaspora in the Western USA: evolutionary and forensic perspectives

Individuals of Basque origin migrated in large numbers to the Western USA in the second half of the nineteenth century, and the flow continued with less intensity during the last century. The European source population, that of the Basque Country, has long been a cultural and geographical isolate. Previous studies have demonstrated that Y-STR frequencies of Basques are different from those of other Spanish and European populations [1]. The Basque diaspora in the Western USA is a recent migration, but the founder effect and the incorporation of new American Y chromosomes into the paternal genetic pool of the Basque diaspora could have influenced its genetic structure and could thus have practical implications for forensic genetics. To check for genetic substructure among the European source and Basque diaspora populations and determine the most suitable population database for the Basque diaspora in the Western USA, we have analysed the haplotype distribution of 17 Y-STRs in both populations. We have found that the Basque diaspora in the Western USA largely conserve the Y chromosome lineage characteristic of the autochthonous European Basque population with no statistically significant differences. This implies that a common 17 Y-STR Basque population database could be used to calculate identification or kinship parameters regardless of whether the Basque individuals are from the European Basque Country or from the Basque diaspora in the Western USA.

SNPSTR rs59186128_D7S820 polymorphism distribution in European Caucasoid, Hispanic, and Afro-American populations.

Single nucleotide polymorphisms (SNPs) in the flanking regions of microsatellite loci (SNPSTRs) help to increase the power of discrimination of short tandem repeat (STR) loci. SNPs are positions in the genome that have been well-conserved over the course of evolution, so analysing them can help distinguish between STR alleles in which the number of repetitions matches due to descent from those which match by chance. This provides support for the determination of biological paternity and other kinship analyses in which mutation needs to be ruled out as grounds for exclusion. Locus D7S820 shows a variable position, SNP rs59186128, in the 5′ flanking region. This study is set out (1) to determine the frequencies of SNP rs59186128 in populations with various geographical origins and (2) to estimate the possible contribution of rs59186128 to the allele discrimination of locus D7S820. To that end, individuals from European Caucasoid, Hispanic, and Afro-American populations are studied using denaturing high-performance liquid chromatography, which enables locus rs59186128 to be quickly and highly cost-effectively screened. Moreover, a method is established for determining the haplotypes of SNPSTR rs59186128_D7820. The results show that SNP rs59186128 has a T allele frequency of more than 0.15 in one of the Afro-American populations studied, and the haplotype analysis shows that there is no preferential association between the alleles of SNPSTR rs59186128_D7S820, which supports the idea that they could be useful in forensic applications.

A comparison of injuries in elite male and female football players: A five-season prospective study

The aim was to compare the epidemiology of injuries between elite male and female football players from the same club. Injuries and individual exposure time in a male team and a female team, both playing in the Spanish first division, were prospectively recorded by the clubs medical staff for five seasons (2010‐2015) following the FIFA consensus statement. Total, training, and match exposure hours per player‐season were 20% higher for men compared to women (P<.01). Total, training, and match injury incidence were 30%‐40% higher in men (P≤.04) mainly due to a 4.82 (95% confidence interval [CI] 2.30‐10.08) times higher incidence of contusions, as there were no differences in the incidence of muscle and joint/ligament injuries (P≥.44). The total number of absence days was 21% larger in women owing to a 5.36 (95% CI 1.11‐25.79) times higher incidence of severe knee and ankle ligament injuries. Hamstring strains and pubalgia cases were 1.93 (95% CI 1.16‐3.20) and 11.10 (95% CI 1.48‐83.44) times more frequent in men, respectively; whereas quadriceps strains, anterior cruciate ligament ruptures, and ankle syndesmosis injuries were 2.25 (95% CI 1.22‐4.17), 4.59 (95% CI 0.93‐22.76), and 5.36 (95% CI 1.11‐25.79) times more common in women, respectively. In conclusion, prevention strategies should be tailored to the needs of male and female football players, with men more predisposed to hamstring strains and hip/groin injuries, and women to quadriceps strains and severe knee and ankle ligament injuries.