scholarly journals Genetic Susceptibility to Periodontal Disease in Down Syndrome: A Case-Control Study

2021 ◽  
Vol 22 (12) ◽  
pp. 6274
Author(s):  
María Fernández ◽  
Alicia de de Coo ◽  
Inés Quintela ◽  
Eliane García ◽  
Márcio Diniz-Freitas ◽  
...  

Severe periodontitis is prevalent in Down syndrome (DS). This study aimed to identify genetic variations associated with periodontitis in individuals with DS. The study group was distributed into DS patients with periodontitis (n = 50) and DS patients with healthy periodontium (n = 36). All samples were genotyped with the “Axiom Spanish Biobank” array, which contains 757,836 markers. An association analysis at the individual marker level using logistic regression, as well as at the gene level applying the sequence kernel association test (SKAT) was performed. The most significant genes were included in a pathway analysis using the free DAVID software. C12orf74 (rs4315121, p = 9.85 × 10−05, OR = 8.84), LOC101930064 (rs4814890, p = 9.61 × 10−05, OR = 0.13), KBTBD12 (rs1549874, p = 8.27 × 10−05, OR = 0.08), PIWIL1 (rs11060842, p = 7.82 × 10−05, OR = 9.05) and C16orf82 (rs62030877, p = 8.92 × 10−05, OR = 0.14) showed a higher probability in the individual analysis. The analysis at the gene level highlighted PIWIL, MIR9-2, LHCGR, TPR and BCR. At the signaling pathway level, PI3K-Akt, long-term depression and FoxO achieved nominal significance (p = 1.3 × 10−02, p = 5.1 × 10−03, p = 1.2 × 10−02, respectively). In summary, various metabolic pathways are involved in the pathogenesis of periodontitis in DS, including PI3K-Akt, which regulates cell proliferation and inflammatory response.

Author(s):  
David M. Willumsen

The central argument of this book is that voting unity in European legislatures is not primarily the result of the ‘disciplining’ power of the leadership of parliamentary parties, but rather the result of a combination of ideological homogeneity through self-selection into political parties and the calculations of individual legislators about their own long-term benefits. Despite the central role of policy preferences in the subsequent behaviour of legislators, preferences at the level of the individual legislator have been almost entirely neglected in the study of parliaments and legislative behaviour. The book measures these using an until now under-utilized resource: parliamentary surveys. Building on these, the book develops measures of policy incentives of legislators to dissent from their parliamentary parties, and show that preference similarity amongst legislators explains a very substantial proportion of party unity, yet alone cannot explain all of it. Analysing the attitudes of legislators to the demands of party unity, and what drives these attitudes, the book argues that what explains the observed unity (beyond what preference similarity would explain) is the conscious acceptance by MPs that the long-term benefits of belonging to a united party (such as increased influence on legislation, lower transaction costs, and better chances of gaining office) outweigh the short-terms benefits of always voting for their ideal policy outcome. The book buttresses this argument through the analysis of both open-ended survey questions as well as survey questions on the costs and benefits of belonging to a political party in a legislature.


2021 ◽  
pp. 1420326X2110036
Author(s):  
Qian Xu ◽  
Chan Lu ◽  
Rachael Gakii Murithi ◽  
Lanqin Cao

A cohort case–control study was conducted in XiangYa Hospital, Changsha, China, which involved 305 patients and 399 healthy women, from June 2010 to December 2018, to evaluate the association between Chinese women’s short- and long-term exposure to industrial air pollutant, SO2 and gynaecological cancer (GC). We obtained personal and family information from the XiangYa Hospital electronic computer medical records. Using data obtained from the air quality monitoring stations in Changsha, we estimated each woman’s exposure to the industrial air pollutant, sulphur dioxide (SO2), for different time windows, including the past 1, 5, 10 and 15 years before diagnosis of the disease. A multiple logistic regression model was used to assess the association between GC and SO2 exposure. GC was significantly associated with long-term SO2 exposure, with adjusted odds ratio (95% confidence interval) = 1.56 (1.10–2.21) and 1.81 (1.07–3.06) for a per interquartile range increase in the past 10 and 15 years, respectively. Sensitivity analysis showed that different groups reacted in different ways to long-term SO2 exposure. We concluded that long-term exposure to high concentration of industrial pollutant, SO2 is associated with the development of GC. This finding has implications for the prevention and reduction of GC.


2020 ◽  
pp. 1-9
Author(s):  
Anaisa Valido Ferreira ◽  
Jorge Domiguéz-Andrés ◽  
Mihai Gheorghe Netea

Immunological memory is classically attributed to adaptive immune responses, but recent studies have shown that challenged innate immune cells can display long-term functional changes that increase nonspecific responsiveness to subsequent infections. This phenomenon, coined <i>trained immunity</i> or <i>innate immune memory</i>, is based on the epigenetic reprogramming and the rewiring of intracellular metabolic pathways. Here, we review the different metabolic pathways that are modulated in trained immunity. Glycolysis, oxidative phosphorylation, the tricarboxylic acid cycle, amino acid, and lipid metabolism are interplaying pathways that are crucial for the establishment of innate immune memory. Unraveling this metabolic wiring allows for a better understanding of innate immune contribution to health and disease. These insights may open avenues for the development of future therapies that aim to harness or dampen the power of the innate immune response.


Author(s):  
César Fernández-de-las-Peñas ◽  
Juan Torres-Macho ◽  
Maria Velasco-Arribas ◽  
Jose A. Arias-Navalón ◽  
Carlos Guijarro ◽  
...  

2021 ◽  
Vol 36 (3) ◽  
pp. 287-298
Author(s):  
Jonathan Bergman ◽  
Marcel Ballin ◽  
Anna Nordström ◽  
Peter Nordström

AbstractWe conducted a nationwide, registry-based study to investigate the importance of 34 potential risk factors for coronavirus disease 2019 (COVID-19) diagnosis, hospitalization (with or without intensive care unit [ICU] admission), and subsequent all-cause mortality. The study population comprised all COVID-19 cases confirmed in Sweden by mid-September 2020 (68,575 non-hospitalized, 2494 ICU hospitalized, and 13,589 non-ICU hospitalized) and 434,081 randomly sampled general-population controls. Older age was the strongest risk factor for hospitalization, although the odds of ICU hospitalization decreased after 60–69 years and, after controlling for other risk factors, the odds of non-ICU hospitalization showed no trend after 40–49 years. Residence in a long-term care facility was associated with non-ICU hospitalization. Male sex and the presence of at least one investigated comorbidity or prescription medication were associated with both ICU and non-ICU hospitalization. Three comorbidities associated with both ICU and non-ICU hospitalization were asthma, hypertension, and Down syndrome. History of cancer was not associated with COVID-19 hospitalization, but cancer in the past year was associated with non-ICU hospitalization, after controlling for other risk factors. Cardiovascular disease was weakly associated with non-ICU hospitalization for COVID-19, but not with ICU hospitalization, after adjustment for other risk factors. Excess mortality was observed in both hospitalized and non-hospitalized COVID-19 cases. These results confirm that severe COVID-19 is related to age, sex, and comorbidity in general. The study provides new evidence that hypertension, asthma, Down syndrome, and residence in a long-term care facility are associated with severe COVID-19.


2021 ◽  
Vol 5 (4) ◽  
Author(s):  
Danxia Yu ◽  
Yaohua Yang ◽  
Jirong Long ◽  
Wanghong Xu ◽  
Qiuyin Cai ◽  
...  

ABSTRACT Background Diet is known to affect human gut microbiome composition; yet, how diet affects gut microbiome functionality remains unclear. Objective We compared the diversity and abundance/presence of fecal microbiome metabolic pathways among individuals according to their long-term diet quality. Methods In 2 longitudinal cohorts, we assessed participants’ usual diets via repeated surveys during 1996–2011 and collected a stool sample in 2015–2018. Participants who maintained a healthy or unhealthy diet (i.e., stayed in the highest or lowest quintile of a healthy diet score throughout follow-up) were selected. Participants were excluded if they reported a history of cancer, cardiovascular disease, diabetes, or hypertension; had diarrhea or constipation in the last 7 d; or used antibiotics in the last 6 mo before stool collection. Functional profiling of shotgun metagenomics was performed using HUMAnN2. Associations of dietary variables and 420 microbial metabolic pathways were evaluated via multivariable-adjusted linear or logistic regression models. Results We included 144 adults (mean age = 64 y; 55% female); 66 had an unhealthy diet and 78 maintained a healthy diet. The healthy diet group had higher Shannon α-diversity indexes of microbial gene families and metabolic pathways (both P &lt; 0.02), whereas β-diversity, as evaluated by Bray-Curtis distance, did not differ between groups (both P &gt; 0.50). At P &lt; 0.01 [false discovery rate (FDR) &lt;0.15], the healthy diet group showed enriched pathways for vitamin and carrier biosynthesis (e.g., tetrahydrofolate, acetyl-CoA, and l-methionine) and tricarboxylic acid (TCA) cycle, and increased degradation (or reduced biosynthesis) of certain sugars [e.g., cytidine monophosphate (CMP)-legionaminate, deoxythymidine diphosphate (dTDP)-l-rhamnose, and sucrose], nucleotides, 4-aminobutanoate, methylglyoxal, sulfate, and aromatic compounds (e.g., catechol and toluene). Meanwhile, several food groups were associated with the CMP-legionaminate biosynthesis pathway at FDR &lt;0.05. Conclusions In a small longitudinal study of generally healthy, older Chinese adults, we found long-term healthy eating was associated with increased α-diversity of microbial gene families and metabolic pathways and altered symbiotic functions relevant to human nutrition and health.


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