A Common Variant in the Telomerase RNA Component Is Associated with Short Telomere Length

Background: Telomeres shorten as cells divide. This shortening is compensated by the enzyme telomerase. We evaluated the effect of common variants in the telomerase RNA component (TERC) gene on telomere length (TL) in the populationbased Health Aging and Body Composition (Health ABC) Study and in two replication samples (the TwinsUK Study and the Amish Family Osteoporosis Study, AFOS). Methodology: Five variants were identified in the TERC region by sequence analysis and only one SNP was common (rs2293607, G/A). The frequency of the G allele was 0.26 and 0.07 in white and black, respectively. Testing for association between TL and rs2293607 was performed using linear regression models or variance component analysis conditioning on relatedness among subjects. Results: The adjusted mean TL was significantly shorter in 665 white carriers of the G allele compared to 887 non-carriers from the Health ABC Study (4.69±0.05 kbp vs. 4.86±0.04 kbp, measured by quantitative PCR, p = 0.005). This association was replicated in another white sample from the TwinsUK Study (6.90±0.03 kbp in 301 carriers compared to 7.06±0.03 kbp in 395 non-carriers, measured by Southern blots, p = 0.009). A similar pattern of association was observed in whites from the family-based AFOS and blacks from the Health ABC cohort, although not statistically significant, possibly due to the lower allele frequency in these populations. Combined analysis using 2,953 white subjects from 3 studies showed a significant association between TL and rs2293607 (β =-0.19±0.04 kbp, p = 0.001). Conclusion: Our study shows a significant association between a common variant in TERC and TL in humans, suggesting that TERC may play a role in telomere homeostasis. © 2010 Njajou et al

HFE gene mutations increase the risk of coronary heart disease in women

The purpose of the present study is to examine HFE gene mutations in relation to newly diagnosed (incident) coronary heart disease (CHD). In a population-based follow-up study of 7,983 individuals aged 55 years and older, we compared the risk of incident CHD between HFE carriers and non-carriers, overall and stratified by sex and smoking status. HFE mutations were significantly associated with an increased risk of incident CHD in women but not in men (hazard ratio [HR] for women = 1.7, 95% confidence interval [CI] 1.2–2.4 versus HR for men = 0.9, 95% CI 0.7–1.2). This increased CHD risk associated with HFE mutations in women was statistically significant in never smokers (HR = 1.8, 95% CI 1.1–2.8) and current smokers (HR = 3.1, 95% CI 1.4–7.1), but not in former smokers (HR = 1.3, 95% CI 0.7–2.4). HFE mutations are associated with increased risk of incident CHD in women

Does bilirubin protect against hemochromatosis gene (HFE) related mortality?

Serum bilirubin is an important antioxidant that is found at increased levels in hereditary hemochromatosis patients. We hypothesized that increased levels of serum bilirubin may play a protective role against oxidative stress induced by iron overload in carriers of mutations in the hereditary hemochromatosis gene (HFE). We studied the relation between serum total bilirubin, serum iron levels, the HFE C282Y and H63D mutations, and mortality. The study was conducted in 2,332 randomly selected subjects from the Rotterdam Study, a population-based follow-up study of people aged 55 years or over. Serum bilirubin levels were significantly correlated with serum iron (Pearson's correlation coefficient (r) = 0.4, P <0.001), transferrin saturation (r = 0.4,

Health Security Planning: Developing the Cameroon National Action Plan for Health Security

The health security planning process transforms recommendations from various evaluations into priority actions tostrengthen countries’ capacity for emergency preparedness using the One Health approach. Although the World HealthOrganization (WHO) has developed many tools to facilitate the planning process of a National Action Plan for HealthSecurity (NAPHS) across the various components, a series of multisectoral workshops is still needed to complete theprocess. In this article, we report on the process of developing Cameroon’s NAPHS and propose an innovative solutionto improve the process. The NAPHS development process was conducted from May to December 2018. The WHONAPHS framework, adapted to the local context, guided the process. The WHO planning matrix was used to planactivities and the WHO NAPHS costing tool was used to facilitate the costing exercise. A total of 84 Joint ExternalEvaluation recommendations were translated into activities included in Cameroon’s NAPHS. Among these activities, themajority (56%) were of medium priority. The total cost of a 5-year NAPHS was US$87,668,356, with almost half(49%) of the budget allocated to activities in the ‘‘Prevent’’ category and more than a third (35%) allocated to the‘‘Detect’’ category. The top 3 cost drivers were immunization (22%), the national laboratory system (21%), andantimicrobial resistance (16%). The NAPHS informed policymakers of planned activities and funding needs to fast-trackthe development of health security capacities. Running gaps in funding will be addressed during a resource mappingexercise. To improve the overall planning process, a web-based support solution, where stakeholders select from a menuof recommendations from the Joint External Evaluation to develop a NAPHS, should be developed to improve theNAPHS development process.info:eu-repo/semantics/publishe

IHR-PVS National Bridging Workshop in Cameroon: An interactive and participatory approach to engage stakeholders in the development of a One Health road map

Introduction: Stakeholders involved in the implementation of the One Health (OH) welcome support for the operationalization of the approach and advice on how to address OH collaboration challenges. The IHR/PVS National Bridging Workshop (NBW) is an operational and outcome-oriented tool approach that allows animal health, human health and other relevant sectors to focus on their coordination. This paper describes how Cameroon leveraged on the NBW success factors to engage stakeholders in strengthening multisectoral collaboration. Methods: Stakeholder's engagement was implemented in two phases. Phase one consisted of engaging the multisectoral national task team for the preparation of the workshop. Phase two consisted of the bridging exercise itself during a three day workshop. The WOAH-WHO standardized IHR/PVS NBW toolkit was used throughout the workshop. Results: A total of 66 participants took part in the exercise. In total, 36% each came from human and animal health sectors with 23% and 5% from the environmental health and other sectors respectively. A total of 55% participants came from the national level and 39% from the regional level. The joint roadmap contained 55 activities and 13 objectives. Priority objectives were the establishment of a OH platform at all levels (62% of the vote) and building stakeholder's capacity on the OH approach (56% of the vote). A total of 67% of the activities required low or moderate cost and 87% would have a high impact on multisectoral collaboration. Conclusion: The NBW allowed consensus on operational activities to fill the gaps in coordination to build health security capacities. It enabled Cameroon to create a joint road map for enhanced multisectoral collaboration for health security. The output will be integrated in the National Action Plan for Health Security operational plan and support operational One Health activities. It would be crucial to develop global capacity assessment frameworks for environmental health, which could be included in the NBW, to incorporate interconnections with environmental sector. This should allow for a stronger multisectoral linkage of sectors all together for a more the robust OH approach in responding to emerging public health threats

A common variant in the telomerase RNA component is associated with short telomere length.

BackgroundTelomeres shorten as cells divide. This shortening is compensated by the enzyme telomerase. We evaluated the effect of common variants in the telomerase RNA component (TERC) gene on telomere length (TL) in the population-based Health Aging and Body Composition (Health ABC) Study and in two replication samples (the TwinsUK Study and the Amish Family Osteoporosis Study, AFOS).MethodologyFive variants were identified in the TERC region by sequence analysis and only one SNP was common (rs2293607, G/A). The frequency of the G allele was 0.26 and 0.07 in white and black, respectively. Testing for association between TL and rs2293607 was performed using linear regression models or variance component analysis conditioning on relatedness among subjects.ResultsThe adjusted mean TL was significantly shorter in 665 white carriers of the G allele compared to 887 non-carriers from the Health ABC Study (4.69±0.05 kbp vs. 4.86±0.04 kbp, measured by quantitative PCR, p = 0.005). This association was replicated in another white sample from the TwinsUK Study (6.90±0.03 kbp in 301 carriers compared to 7.06±0.03 kbp in 395 non-carriers, measured by Southern blots, p = 0.009). A similar pattern of association was observed in whites from the family-based AFOS and blacks from the Health ABC cohort, although not statistically significant, possibly due to the lower allele frequency in these populations. Combined analysis using 2,953 white subjects from 3 studies showed a significant association between TL and rs2293607 (β = -0.19±0.04 kbp, p = 0.001).ConclusionOur study shows a significant association between a common variant in TERC and TL in humans, suggesting that TERC may play a role in telomere homeostasis