scholarly journals The first three months of the COVID-19 epidemic: Epidemiological evidence for two separate strains of SARS-CoV-2 viruses spreading and implications for prevention strategies

2020 ◽  
Author(s):  
Knut M. Wittkowski
Keyword(s):  
Virus Disease ◽  
Association Studies ◽  
Herd Immunity ◽  
Mainland China ◽  
Peak Level ◽  
Epidemiological Data ◽  
Genome Wide Association Studies ◽  
Prevention Strategies ◽  
Peak Incidence ◽  
The U.S

AbstractAbout one month after the COVID-19 epidemic peaked in Mainland China and SARS-CoV-2 migrated to Europe and then the U.S., the epidemiological data begin to provide important insights into the risks associated with the disease and the effectiveness of intervention strategies such as travel restrictions and lockdowns (“social distancing”). Respiratory diseases, including the 2003 SARS epidemic, remain only about two months in any given population, although peak incidence and lethality can vary. The epidemiological data suggest that at least two strains of the 2020 SARS-CoV-2 virus have evolved during its migration from Mainland China to Europe. South Korea, Iran, Italy, and Italy’s neighbors were hit by the more dangerous “SKII” variant. While the epidemic in continental Asia is about to end, and in Europe about to level off, the more recent epidemic in the younger US population is still increasing, albeit not exponentially anymore. The peak level will likely depend on which of the strains has entered the U.S. first. The same models that help us to understand the epidemic also help us to choose prevention strategies. Containment of high-risk people, like the elderly, and reducing disease severity, either by vaccination or by early treatment of complications, is the best strategy against a respiratory virus disease. Lockdowns can be effective during the month following the peak incidence in infections, when the exponential increase of cases ends. Earlier containment of low-risk people merely prolongs the time the virus needs to circulate until the incidence is high enough to initiate “herd immunity”. Later containment is not helpful, unless to prevent a rebound if containment started too early.About the AuthorDr. Wittkowski received his PhD in computer science from the University of Stuttgart and his ScD (Habilitation) in Medical Biometry from the Eberhard-Karls-University Tübingen, both Germany. He worked for 15 years with Klaus Dietz, a leading epidemiologist who coined the term “reproduction number”, on the Epidemiology of HIV before heading for 20 years the Department of Biostatistics, Epidemiology, and Research Design at The Rockefeller University, New York. Dr. Wittkowski is currently the CEO of ASDERA LLC, a company discovering novel interventions against complex (incl. coronavirus) diseases from data of genome-wide association studies.

scholarly journals Genetic Contribution of Endometriosis to the Risk of Developing Hormone-Related Cancers

2021 ◽  
Vol 22 (11) ◽  
pp. 6083
Author(s):  
Aintzane Rueda-Martínez ◽  
Aiara Garitazelaia ◽  
Ariadna Cilleros-Portet ◽  
Sergi Marí ◽  
Rebeca Arauzo ◽  
...  
Keyword(s):  
Mendelian Randomization ◽  
Clear Cell ◽  
Association Studies ◽  
Epidemiological Data ◽  
Epidemiological Studies ◽  
Genome Wide Association Studies ◽  
Genome Wide ◽  
Genomic Analyses ◽  
Gynecological Disorder ◽  
Robust Evidence

Endometriosis is a common gynecological disorder that has been associated with endometrial, breast and epithelial ovarian cancers in epidemiological studies. Since complex diseases are a result of multiple environmental and genetic factors, we hypothesized that the biological mechanism underlying their comorbidity might be explained, at least in part, by shared genetics. To assess their potential genetic relationship, we performed a two-sample mendelian randomization (2SMR) analysis on results from public genome-wide association studies (GWAS). This analysis confirmed previously reported genetic pleiotropy between endometriosis and endometrial cancer. We present robust evidence supporting a causal genetic association between endometriosis and ovarian cancer, particularly with the clear cell and endometrioid subtypes. Our study also identified genetic variants that could explain those associations, opening the door to further functional experiments. Overall, this work demonstrates the value of genomic analyses to support epidemiological data, and to identify targets of relevance in multiple disorders.

scholarly journals GWAS studies reveal a possible genetic link between cancer and suicide attempt

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Konstantinos Voskarides ◽  
Andreas Chatzittofis
Keyword(s):  
Tumor Suppressor ◽  
Suicide Attempt ◽  
Tumor Suppressor Genes ◽  
Association Studies ◽  
Epidemiological Data ◽  
Genome Wide Association Studies ◽  
Suppressor Genes ◽  
Genetic Link ◽  
Geographical Regions ◽  
Extreme Cold

AbstractInuit is the population with the highest incidence of suicide attempt and cancer in the world. Previous studies reported that people attempted suicide have a higher future risk for cancer. In view of these data, the largest available genome wide association studies (GWAS) for four major mental disorder groups were screened here for any common genes with all known cancer associated genes and oncogenes/tumor suppressor genes. A common genetic background came out only between suicide attempt and cancer (cancer associated genes analysis: RR = 1.64, p = 7.83 × 10−5; oncogenes/tumor suppressor genes analysis: RR = 2.55, p = 2.82 × 10−22), this supporting existing epidemiological data. Incidence/prevalence of both conditions was found to correlate with extreme cold geographical regions (adjusted R2 = 0.135, p = 3.00 × 10−4); this is not the case for other mental disorders. Our results show a possible genetic link between suicide attempt and cancer and a possible evolutionary connection of both diseases with extreme cold environments. These data are useful for future molecular studies or even for investigation of possible therapeutic protocols.

scholarly journals Understanding the genetic architecture of the metabolically unhealthy normal weight and metabolically healthy obese phenotypes in a Korean population

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Jae-Min Park ◽  
Da-Hyun Park ◽  
Youhyun Song ◽  
Jung Oh Kim ◽  
Ja-Eun Choi ◽  
...  
Keyword(s):  
Genetic Architecture ◽  
Association Studies ◽  
Epidemiological Data ◽  
Normal Weight ◽  
Korean Population ◽  
Genome Wide Association Studies ◽  
Metabolically Healthy Obese ◽  
Genome Wide ◽  
Healthy Obese ◽  
Metabolically Healthy

AbstractUnderstanding the mechanisms underlying the metabolically unhealthy normal weight (MUHNW) and metabolically healthy obese (MHO) phenotypes is important for developing strategies to prevent cardiometabolic diseases. Here, we conducted genome-wide association studies (GWASs) to identify the MUHNW and MHO genetic indices. The study dataset comprised genome-wide single-nucleotide polymorphism genotypes and epidemiological data from 49,915 subjects categorised into four phenotypes—metabolically healthy normal weight (MHNW), MUHNW, MHO, and metabolically unhealthy obese (MUHO). We conducted two GWASs using logistic regression analyses and adjustments for confounding variables (model 1: MHNW versus MUHNW and model 2: MHO versus MUHO). GCKR, ABCB11, CDKAL1, LPL, CDKN2B, NT5C2, APOA5, CETP, and APOC1 were associated with metabolically unhealthy phenotypes among normal weight individuals (model 1). LPL, APOA5, and CETP were associated with metabolically unhealthy phenotypes among obese individuals (model 2). The genes common to both models are related to lipid metabolism (LPL, APOA5, and CETP), and those associated with model 1 are related to insulin or glucose metabolism (GCKR, CDKAL1, and CDKN2B). This study reveals the genetic architecture of the MUHNW and MHO phenotypes in a Korean population-based cohort. These findings could help identify individuals at a high metabolic risk in normal weight and obese populations and provide potential novel targets for the management of metabolically unhealthy phenotypes.

Genetics

2018 ◽  
Author(s):  
Alessandro Pezzini
Keyword(s):  
Ischaemic Stroke ◽  
Association Studies ◽  
Single Gene ◽  
Cerebrovascular Disorders ◽  
Epidemiological Data ◽  
Genome Wide Association Studies ◽  
Clinical Genetic ◽  
Genome Wide ◽  
Single Gene Disorders ◽  
Near Future

Ischaemic stroke is a heterogeneous multifactorial disorder. Although epidemiological data from twin and family studies provide substantial evidence for a genetic basis for stroke, the contribution of genetic factors identified so far is small. Large progress has been made in single-gene disorders associated with ischaemic stroke, particularly at young age. By contrast, little is known about the genes associated with multifactorial stroke. The reported genome-wide association studies of ischaemic stroke have shown that no single common genetic variant imparts major risk, but data on early-onset disease are scarce in this regard. Larger studies with samples numbering in the thousands are ongoing to identify common variants with smaller effects on risk. This approach, in addition with new analytic techniques, will likely contribute to the identification of additional genes, novel pathways, and eventually novel therapeutic approaches to cerebrovascular disorders in the near future. The aims of this review are to summarize data on clinical, genetic, and epidemiologic aspects of monogenic conditions associated with juvenile ischaemic stroke, to discuss recent findings and methodological limitations regarding the genetics of sporadic ischaemic stroke in this age category, and to provide a brief overview of the potential future approaches to stroke genetics.

scholarly journals Towards Individualized Medicine: Insights Gained from Genomic Studies

2009 ◽  
Vol 9 (1) ◽  
pp. S11-S16 ◽  
Author(s):  
Salman Kirmani ◽  
Dusica Babovic-Vuksanovic
Keyword(s):  
Human Genetics ◽  
Association Studies ◽  
Individualized Medicine ◽  
Genetic Disorders ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Prevention Strategies ◽  
Genome Wide ◽  
Genomic Studies

Advances in the field of human genetics have made it possible to develop specific management and prevention strategies for rare genetic disorders, and tailor pharmacotherapeutic approaches to anticoagulation and certain cancers. The role that genetic variation plays in influencing the risk and outcome of the most common diseases are still unclear. Data from genome-wide association studies is just beginning to answer these questions. We review the role of genome-wide association studies in the quest towards individualized medicine, and examine the promises and challenges that lie ahead.

scholarly journals Telomeres and Telomere Length: A General Overview

Cancers ◽  
2020 ◽  
Vol 12 (3) ◽  
pp. 558 ◽  
Author(s):  
Nalini Srinivas ◽  
Sivaramakrishna Rachakonda ◽  
Rajiv Kumar
Keyword(s):  
Environmental Factors ◽  
Telomere Length ◽  
Replicative Senescence ◽  
Association Studies ◽  
Epidemiological Data ◽  
Genome Wide Association Studies ◽  
Nucleotide Polymorphisms ◽  
Telomere Attrition ◽  
Age Related ◽  
The Impact

Telomeres are highly conserved tandem nucleotide repeats that include proximal double-stranded and distal single-stranded regions that in complex with shelterin proteins afford protection at chromosomal ends to maintain genomic integrity. Due to the inherent limitations of DNA replication and telomerase suppression in most somatic cells, telomeres undergo age-dependent incremental attrition. Short or dysfunctional telomeres are recognized as DNA double-stranded breaks, triggering cells to undergo replicative senescence. Telomere shortening, therefore, acts as a counting mechanism that drives replicative senescence by limiting the mitotic potential of cells. Telomere length, a complex hereditary trait, is associated with aging and age-related diseases. Epidemiological data, in general, support an association with varying magnitudes between constitutive telomere length and several disorders, including cancers. Telomere attrition is also influenced by oxidative damage and replicative stress caused by genetic, epigenetic, and environmental factors. Several single nucleotide polymorphisms at different loci, identified through genome-wide association studies, influence inter-individual variation in telomere length. In addition to genetic factors, environmental factors also influence telomere length during growth and development. Telomeres hold potential as biomarkers that reflect the genetic predisposition together with the impact of environmental conditions and as targets for anti-cancer therapies.

scholarly journals Genetic characterization of melon accessions in the U.S. National Plant Germplasm System and construction of a melon core collection

2021 ◽  
Vol 1 (1) ◽  
Author(s):  
Xin Wang ◽  
Kaori Ando ◽  
Shan Wu ◽  
Umesh K. Reddy ◽  
Prabin Tamang ◽  
...  
Keyword(s):  
Genetic Diversity ◽  
Core Collection ◽  
Association Studies ◽  
Genotyping By Sequencing ◽  
Future Research ◽  
Genome Wide Association Studies ◽  
The Core ◽  
Plant Germplasm ◽  
National Plant Germplasm System ◽  
The U.S

AbstractMelon (C. melo L.) is an economically important vegetable crop cultivated worldwide. The melon collection in the U.S. National Plant Germplasm System (NPGS) is a valuable resource to conserve natural genetic diversity and provide novel traits for melon breeding. Here we use the genotyping-by-sequencing (GBS) technology to characterize 2083 melon accessions in the NPGS collected from major melon production areas as well as regions where primitive melons exist. Population structure and genetic diversity analyses suggested that C. melo ssp. melo was firstly introduced from the centers of origin, Indian and Pakistan, to Central and West Asia, and then brought to Europe and Americas. C. melo ssp. melo from East Asia was likely derived from C. melo ssp. agrestis in India and Pakistan and displayed a distinct genetic background compared to the rest of ssp. melo accessions from other geographic regions. We developed a core collection of 383 accessions capturing more than 98% of genetic variation in the germplasm, providing a publicly accessible collection for future research and genomics-assisted breeding of melon. Thirty-five morphological characters investigated in the core collection indicated high variability of these characters across accessions in the collection. Genome-wide association studies using the core collection panel identified potentially associated genome regions related to fruit quality and other horticultural traits. This study provides insights into melon origin and domestication, and the constructed core collection and identified genome loci potentially associated with important traits provide valuable resources for future melon research and breeding.

TLR1 and PRKAA1 Gene Polymorphisms in the Development of Atrophic Gastritis and Gastric Cancer

2018 ◽  
Vol 27 (4) ◽  
pp. 363-369 ◽  
Author(s):  
Gintare Dargiene ◽  
Greta Streleckiene ◽  
Jurgita Skieceviciene ◽  
Marcis Leja ◽  
Alexander Link ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Atrophic Gastritis ◽  
Genetic Polymorphisms ◽  
Association Studies ◽  
Control Group ◽  
Similar Distribution ◽  
Genome Wide Association Studies ◽  
Increased Risk ◽  
Infection Susceptibility ◽  
H Pylori

Background & Aims: Previous genome-wide association studies showed that genetic polymorphisms in toll-like receptor 1 (TLR1) and protein kinase AMP-activated alpha 1 catalytic subunit (PRKAA1) genes were associated with gastric cancer (GC) or increased Helicobacter pylori (H. pylori) infection susceptibility. The aim of this study was to evaluate the association between TLR1 and PRKAA1 genes polymorphisms and H.pylori infection, atrophic gastritis (AG) or GC in the European population.Methods: Single-nucleotide polymorphisms (SNPs) were analysed in 511 controls, 340 AG patients and 327 GC patients. TLR1 C>T (rs4833095) and PRKAA1 C>T (rs13361707) were genotyped by the real-time polymerase chain reaction. H. pylori status was determined by testing for anti-H. pylori IgG antibodies in the serum.Results: The study included 697 (59.2%) H. pylori positive and 481 (40.8%) H. pylori negative cases. We observed similar distribution of TLR1 and PRKAA1 alleles and genotypes in H. pylori positive and negative cases. TLR1 and PRKAA1 SNPs were not linked with the risk of AG. TC genotype of TLR1 gene was more prevalent in GC patients compared to the control group (29.7% and 22.3% respectively, p=0.002). Carriers of TC genotype had a higher risk of GC (aOR=1.89, 95% CI: 1.26–2.83, p=0.002). A similar association was observed in a dominant inheritance model for TLR1 gene SNP, where comparison of CC+TC vs. TT genotypes showed an increased risk of GC (aOR=1.86, 95% CI: 1.26–2.75, p=0.002). No association between genetic polymorphism in PRKAA1 gene and GC was observed.Conclusions: TLR1 rs4833095 SNP was associated with an increased risk of GC in a European population, while PRKAA1 rs13361707 genetic variant was not linked with GC. Both genetic polymorphisms were not associated with H. pylori infection susceptibility or the risk of AG.

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