Michael Deason

No Association between ACE Gene Variation and Endurance Athlete Status in Ethiopians

PURPOSE The most widely studied candidate gene for endurance performance is the angiotensin-converting enzyme (ACE) gene. The best endurance runners in the world hail from Kenya and Ethiopia, so the lack of association between the ACE gene and elite endurance athlete status we previously reported in Kenyans requires replication in Ethiopians. METHODS DNA was extracted from buccal swabs collected from subjects filling four groups: elite endurance runners from the Ethiopian national athletics team specializing in 5 km to marathon distances (n = 76), controls demographically matched to the elite endurance athletes (n = 410), controls representing the general Ethiopian population (n = 317), and sprint and power event athletes from the Ethiopian national athletics team (n = 38). ACE I/D and A22982G (rs4363) genotype frequencies were determined for each of these groups, and differences between groups were assessed using χ(2) tests. RESULTS There were no significant deviations from Hardy-Weinberg equilibrium in endurance athletes or either control group. Endurance athletes did not differ significantly in ACE I/D genotype frequency when compared with the endurance athlete-matched control group (P = 0.16), general controls (P = 0.076), or sprint and power athletes (P = 0.39) (endurance athletes: 15.8% II, endurance athlete-matched controls: 8.8% II, general controls: 7.6% II, sprint and power athletes: 10.5% II). Similarly, no significant differences were found in ACE A22982G genotype between groups (endurance athletes: 13.2% AA, endurance athlete-matched controls: 12.2% AA, general controls: 12.0% AA, sprint and power athletes: 13.2%; endurance athletes vs endurance athlete-matched controls: P = 0.97, endurance athletes vs general controls: P = 0.95, endurance athletes vs sprint and power athletes: P = 0.52). CONCLUSIONS As previously shown in elite Kenyan athletes, ACE I/D and A22982G polymorphisms are not associated with elite endurance athlete status in Ethiopians.

Interdisciplinary approach to the demography of Jamaica

BackgroundThe trans-Atlantic slave trade dramatically changed the demographic makeup of the New World, with varying regions of the African coast exploited differently over roughly a 400 year period. When compared to the discrete mitochondrial haplotype distribution of historically appropriate source populations, the unique distribution within a specific source population can prove insightful in estimating the contribution of each population. Here, we analyzed the first hypervariable region of mitochondrial DNA in a sample from the Caribbean island of Jamaica and compared it to aggregated populations in Africa divided according to historiographically defined segments of the continents coastline. The results from these admixture procedures were then compared to the wealth of historic knowledge surrounding the disembarkation of Africans on the island.ResultsIn line with previous findings, the matriline of Jamaica is almost entirely of West African descent. Results from the admixture analyses suggest modern Jamaicans share a closer affinity with groups from the Gold Coast and Bight of Benin despite high mortality, low fecundity, and waning regional importation. The slaves from the Bight of Biafra and West-central Africa were imported in great numbers; however, the results suggest a deficit in expected maternal contribution from those regions.ConclusionsWhen considering the demographic pressures imposed by chattel slavery on Jamaica during the slave era, the results seem incongruous. Ethnolinguistic and ethnographic evidence, however, may explain the apparent non-random levels of genetic perseverance. The application of genetics may prove useful in answering difficult demographic questions left by historically voiceless groups.

Importance of mitochondrial haplotypes and maternal lineage in sprint performance among individuals of West African ancestry.

Mitochondrial DNA (mtDNA) is inherited solely along the matriline, giving insight into both ancestry and prehistory. Individuals of sub‐Saharan ancestry are overrepresented in sprint athletics, suggesting a genetic advantage. The purpose of this study was to compare the mtDNA haplogroup data of elite groups of Jamaican and African‐American sprinters against respective controls to assess any differences in maternal lineage. The first hypervariable region of mtDNA was haplogrouped in elite Jamaican athletes (N=107) and Jamaican controls (N=293), and elite African‐American athletes (N=119) and African‐American controls (N=1148). Exact tests of total population differentiation were performed on total haplogroup frequencies. The frequency of non‐sub‐Saharan haplogroups in Jamaican athletes and Jamaican controls was similar (1.87% and 1.71%, respectively) and lower than that of African‐American athletes and African‐American controls (21.01% and 8.19%, respectively). There was no significant difference in total haplogroup frequencies between Jamaican athletes and Jamaican controls (P=0.551 ± 0.005); however, there was a highly significant difference between African‐American athletes and African‐American controls (P<0.001). The finding of statistically similar mtDNA haplogroup distributions in Jamaican athletes and Jamaican controls suggests that elite Jamaican sprinters are derived from the same source population and there is neither population stratification nor isolation for sprint performance. The significant difference between African‐American sprinters and African‐American controls suggests that the maternal admixture may play a role in sprint performance.

The West African Ethnicity of the Enslaved in Jamaica

The African ethnicity of New World slaves was highly significant for the transmission of African social, cultural and religious beliefs and practices. This study employs the mitochondrial DNA (mtDNA) analysis of present-day Jamaicans in order to assess the ethnic origins of their enslaved female ancestors (males, including white overseers and masters, do not contribute to mtDNA). The evidence suggests that the Gold Coast was the largest single source of Jamaican slaves who arrived, remained and survived in Jamaica. While this finding fits with some historical evidence, it refines the data contained within the Voyages: Transatlantic Slave Trade Database, which indicates that the Bight of Biafra provided the most enslaved Africans to Jamaica.

Risk-based strategies for surveillance of tuberculosis infection in cattle for low-risk areas in England and Scotland

SUMMARY Disease surveillance can be made more effective by either improving disease detection, providing cost savings, or doing both. Currently, cattle herds in low-risk areas (LRAs) for bovine tuberculosis (bTB) in England are tested once every 4 years. In Scotland, the default herd testing frequency is also 4 years, but a risk-based system exempts some herds from testing altogether. To extend this approach to other areas, a bespoke understanding of at-risk herds and how risk-based surveillance can affect bTB detection is required. Here, we use a generalized linear mixed model to inform a Bayesian probabilistic model of freedom from infection and explore risk-based surveillance strategies in LRAs and Scotland. Our analyses show that in both areas the primary herd-level risk factors for bTB infection are the size of the herd and purchasing cattle from high-risk areas of Great Britain and/or Ireland. A risk-based approach can improve the current surveillance system by both increasing detection (9% and 7% fewer latent infections), and reducing testing burden (6% and 26% fewer animal tests) in LRAs and Scotland, respectively. Testing at-risk herds more frequently can also improve the level of detection by identifying more infected cases and reducing the hidden burden of the disease, and reduce surveillance effort by exempting low-risk herds from testing.

Manipulation of contact network structure and the impact on foot-and-mouth disease transmission

The movements of livestock between premises and markets can be characterised as a dynamic network where the structure of the network itself can critically impact the transmission dynamics of many infectious diseases. As evidenced by the 2001 foot-and-mouth disease (FMD) epidemic in the UK, this can involve transmission over large geographical distances and can result in major economic loss. One consequence of the FMD epidemic was the introduction of mandatory livestock movement restrictions: a 13-day standstill in Scotland for cattle and sheep after moving livestock onto a farm (allowing many exemptions) and a 6-day standstill for cattle and sheep in England and Wales (with minor exemptions, e.g. direct movements to slaughter). Such standstills are known to be effective but commercial considerations result in pressures to relax them. When contemplating legislative changes such as a change in length of movement restrictions we need to consider the consequent effect these could have on the emergent properties of the system, i.e. the network structure itself. In this study, we investigate how disease dynamics change when the local contact structure of the recorded livestock movement network in Scotland is altered through rewiring movements between premises. The network rewiring used here changes the structure of the recorded trade network through a combination of altered movement restrictions and redirection of movements between holdings and markets to avoid nonsensical activity (e.g. movements to markets on days when they are inactive) while conserving other characteristics (e.g. movement date as closely as possible and market sales of the correct animal production type). Rewiring results in networks with higher clustering coefficients and lower network density. The impact of rewiring on a hypothetical foot-and-mouth disease outbreak in Scotland was assessed by stochastic simulation, considering scenarios with and without exemptions to the standstill rules. As expected, rewiring leads to a decrease in outbreak size and - if standstill exemptions are prohibited - higher probability of smaller outbreaks. Without exemptions, a shorter movement standstill is almost as effective as a longer standstill period, indicating that a simpler biosecurity system would offer minimal additional risk for FMD. These results suggest that explicitly manipulating the contact network structure in a sensible way has the potential to significantly impact disease control.

Identifying genotype specific elevated-risk areas and associated herd risk factors for bovine tuberculosis spread in British cattle

Graphical abstract