scholarly journals Mitochondrial genetics of exceptional longevity in multigeneration matrilineages

2018 ◽  
Author(s):  
Richard A. Kerber ◽  
Elizabeth O’Brien ◽  
Ron Munger ◽  
Ken R. Smith ◽  
Richard M. Cawthon
Keyword(s):  
General Population ◽  
Single Individual ◽  
Population Database ◽  
Standard Case ◽  
Mtdna Sequence ◽  
Common Causes ◽  
Longevity Selection ◽  
Study Designs ◽  
Control Study ◽  
Mtdna Haplogroup

AbstractSome heritable mitochondrial DNA (mtDNA) sequence variants may slow the rate of aging. The European mitochondrial haplogroup K has previously been reported to be increased in frequency in centenarians and nonagenarians relative to its frequency in younger individuals, by standard case/control study designs. To select for mitochondrial genomes likely to carry beneficial genetic variants, we screened a large genealogical database (the Utah Population Database, UPDB) for mitochondrial lineages in which the frequency of survival past 90 years was significantly higher than in the general population, and also significantly higher than in close non-matrilineal relatives. We ranked 14,900 distinct matrilineages by the strength of their association with longevity. Full sequencing of the mtDNAs from a single individual from each of 53 matrilineages in the top longevity ranks and each of 374 control matrilineages from the general Utah population, followed by analyses of the mtDNA haplogroup frequencies, identified haplogroup K2 as the haplogroup most enriched in frequency by the longevity selection (Odds Ratio = 23.05). We then analyzed overall survival and cause-specific mortality in the several thousand individuals aged 40 years or older whose mtDNA genotypes could be imputed from the 374 fully sequenced control mtDNAs. In these control matrilineages Haplogroup K2 individuals (n=332) enjoyed a significantly lower all-cause mortality risk than the general population (HR=0.81), attributable in part to a significantly lower risk of dying from heart disease (HR=0.50), as well as lower (though not significantly lower) risks of dying from cancer (HR=0.72) and diabetes (HR=0.74). Furthermore, K2 was the only haplogroup in which mortality was reduced for all three of these common causes of death.

scholarly journals Two Approaches for a Genetic Analysis of Pompe Disease: A Literature Review of Patients with Pompe Disease and Analysis Based on Genomic Data from the General Population

Children ◽  
2021 ◽  
Vol 8 (7) ◽  
pp. 601
Author(s):  
Kyung-Sun Park
Keyword(s):  
General Population ◽  
Pompe Disease ◽  
Genomic Data ◽  
Japanese Patients ◽  
Population Database ◽  
Genome Database ◽  
Genetic Database ◽  
Pathogenic Variants ◽  
Reference Genome Database ◽  
Real Patients

In this study, two different approaches were applied in the analysis of the GAA gene. One was analyzed based on patients with Pompe disease, and the other was analyzed based on GAA genomic data from unaffected carriers in a general population genetic database. For this, GAA variants in Korean and Japanese patients reported in previous studies and in patients reported in the Pompe disease GAA variant database were analyzed as a model. In addition, GAA variants in the Korean Reference Genome Database (KRGDB), the Japanese Multi Omics Reference Panel (jMorp), and the Genome Aggregation Database (gnomAD) were analyzed. Overall, approximately 50% of the pathogenic or likely pathogenic variants (PLPVs) found in unaffected carriers were also found in real patients with Pompe disease (Koreans, 57.1%; Japanese, 46.2%). In addition, there was a moderate positive correlation (Spearman’s correlation coefficient of 0.45–0.69) between the proportion of certain PLPVs in patients and the minor allele frequency of their variants in a general population database. Based on the analysis of general population databases, the total carrier frequency for Pompe disease in Koreans and Japanese was estimated to be 1.7% and 0.7%, respectively, and the predicted genetic prevalence was 1:13,657 and 1:78,013, respectively.

Comparison of social phobia in athletes with doping history in comparison with general population

2021 ◽  
Vol 15 (7) ◽  
pp. 2144-2146
Author(s):  
Sareh Alavirad ◽  
Ali Amiri
Keyword(s):  
General Population ◽  
Social Phobia ◽  
Case Control Study ◽  
Normal Population ◽  
Population Group ◽  
Contributing Factors ◽  
The Social ◽  
Significant Difference ◽  
Dsm Iv ◽  
Control Study

Background: Regarding increasing and concerning worldwide trends of doping and lack of definite information about contributing factors in this era, this study was performed to determine the frequency of social phobia in athletes with doping history in comparison with general population. Methods and materials: In this case-control study 30 subjects were enrolled including two groups of professional athletes with doping history and general population. In each group 15 subjects were present. All subjects were interviewed according to DSM-IV criteria. The social phobia was assessed by social phobia inventory (SPIN). Results: Ten subjects (including 7 men and 3 women) in athletes group and 6 subjects (including 4 men and 2 women) in normal population group had social phobia showing no significant difference between groups (P=0.143). The gender had no effect on having social phobia in none of the groups (P=1.000). Conclusions: Totally, according to the obtained results in this study, it may be concluded that there is no significant difference between presence of social phobia in athletes with doping history and general population. Keywords: Athletes, Doping, Social phobia

scholarly journals Risk of hospital admission with covid-19 among teachers compared with healthcare workers and other adults of working age in Scotland, March 2020 to July 2021: population based case-control study

BMJ ◽  
2021 ◽  
pp. n2060
Author(s):  
Lynda Fenton ◽  
Ciara Gribben ◽  
David Caldwell ◽  
Sam Colville ◽  
Jen Bishop ◽  
...  
Keyword(s):  
General Population ◽  
Hospital Admission ◽  
Healthcare Workers ◽  
Population Based ◽  
Positive Test ◽  
Positive Test Result ◽  
Working Age ◽  
Household Members ◽  
Test Result ◽  
Control Study

Abstract Objective To determine the risk of hospital admission with covid-19 and severe covid-19 among teachers and their household members, overall and compared with healthcare workers and adults of working age in the general population. Design Population based nested case-control study. Setting Scotland, March 2020 to July 2021, during defined periods of school closures and full openings in response to covid-19. Participants All cases of covid-19 in adults aged 21 to 65 (n=132 420) and a random sample of controls matched on age, sex, and general practice (n=1 306 566). Adults were identified as actively teaching in a Scottish school by the General Teaching Council for Scotland, and their household members were identified through the unique property reference number. The comparator groups were adults identified as healthcare workers in Scotland, their household members, and the remaining general population of working age. Main outcome measures The primary outcome was hospital admission with covid-19, defined as having a positive test result for SARS-CoV-2 during hospital admission, being admitted to hospital within 28 days of a positive test result, or receiving a diagnosis of covid-19 on discharge from hospital. Severe covid-19 was defined as being admitted to intensive care or dying within 28 days of a positive test result or assigned covid-19 as a cause of death. Results Most teachers were young (mean age 42), were women (80%), and had no comorbidities (84%). The risk (cumulative incidence) of hospital admission with covid-19 was <1% for all adults of working age in the general population. Over the study period, in conditional logistic regression models adjusted for age, sex, general practice, race/ethnicity, deprivation, number of comorbidities, and number of adults in the household, teachers showed a lower risk of hospital admission with covid-19 (rate ratio 0.77, 95% confidence interval 0.64 to 0.92) and of severe covid-19 (0.56, 0.33 to 0.97) than the general population. In the first period when schools in Scotland reopened, in autumn 2020, the rate ratio for hospital admission in teachers was 1.20 (0.89 to 1.61) and for severe covid-19 was 0.45 (0.13 to 1.55). The corresponding findings for household members of teachers were 0.91 (0.67 to 1.23) and 0.73 (0.37 to 1.44), and for patient facing healthcare workers were 2.08 (1.73 to 2.50) and 2.26 (1.43 to 3.59). Similar risks were seen for teachers in the second period, when schools reopened in summer 2021. These values were higher than those seen in spring/summer 2020, when schools were mostly closed. Conclusion Compared with adults of working age who are otherwise similar, teachers and their household members were not found to be at increased risk of hospital admission with covid-19 and were found to be at lower risk of severe covid-19. These findings should reassure those who are engaged in face-to-face teaching.

scholarly journals Application of the matched nested case-control design to the secondary analysis of trial data

2020 ◽  
Author(s):  
Christopher Partlett ◽  
Nigel J Hall ◽  
Alison Leaf ◽  
Edmund Juszczak ◽  
Louise Linsell
Keyword(s):  
Clinical Trial ◽  
Case Control Study ◽  
Secondary Analysis ◽  
Control Design ◽  
Case Control ◽  
Necrotising Enterocolitis ◽  
Trial Data ◽  
Standard Case ◽  
Nested Case Control ◽  
Control Study

Abstract Background A nested case-control study is an efficient design that can be embedded within an existing cohort study or randomised trial. It has a number of advantages compared to the conventional case-control design, and has the potential to answer important research questions using untapped prospectively collected data. Methods We demonstrate the utility of the matched nested case-control design by applying it to a secondary analysis of the Abnormal Doppler Enteral Prescription Trial. We investigated the role of milk feed type and changes in milk feed type in the development of necrotising enterocolitis in a group of 398 high risk growth-restricted preterm infants. Results Using matching, we were able to generate a comparable sample of controls selected from the same population as the cases. In contrast to the standard case-control design, exposure status was ascertained prior to the outcome event occurring and the comparison between the cases and matched controls could be made at the point at which the event occurred. This enabled us to reliably investigate the temporal relationship between feed type and necrotising enterocolitis. Conclusions A matched nested case-control study can be used to identify credible associations in a secondary analysis of clinical trial data where the exposure of interest was not randomised, and has several advantages over a standard case-control design. This method offers the potential to make reliable inferences in scenarios where it would be unethical or impractical to perform a randomised clinical trial.

Suicide in prisons and remand centres

2021 ◽  
pp. 227-232
Author(s):  
Marco Sarchiapone ◽  
Miriam Iosue
Keyword(s):  
General Population ◽  
Suicide Risk ◽  
Suicide Attempts ◽  
Individual Vulnerability ◽  
High Prevalence ◽  
Common Causes ◽  
Prevention Programmes ◽  
History Of ◽  
Self Harm ◽  
High Level

Suicide is one of the most common causes of death in custodial settings worldwide, accounting for around 10% of prisoners’ deaths. Suicide attempts and suicidal ideation are also more common among prisoners compared to the general population. The high prevalence of suicidal behaviours among prisoners is likely the result of a complex interaction between individual vulnerability and the high level of stress and deprivation caused by the condition of confinement. Among prisoners and inmates, the prevalence of well-established suicide risk factors, such as a history of self-harm, psychopathological conditions, aggressive personality traits, and childhood trauma, is higher than in the general population. Moreover, the loss of freedom and autonomy, social isolation, lack of purposeful activity, and victimization are prison-specific stressors that showed to increase the suicide risk among inmates. Given this complexity, comprehensive multifactored prevention programmes involving the administrative, custodial, and clinical staff are the most effective in preventing suicide.

Genetic association of G896A polymorphism of TLR4 gene in leprosy through family-based and case-control study designs

2013 ◽  
Vol 107 (12) ◽  
pp. 777-782 ◽  
Author(s):  
N. C. Suryadevara ◽  
V. S. K. Neela ◽  
S. Kovvali ◽  
S. S. Pydi ◽  
S. Jain ◽  
...  
Keyword(s):  
Genetic Association ◽  
Case Control Study ◽  
Case Control ◽  
Tlr4 Gene ◽  
Family Based ◽  
Study Designs ◽  
Control Study

Morbidity and mortality in carriers of the cystic fibrosis mutation CFTR Phe508del in the general population

2020 ◽  
Vol 56 (3) ◽  
pp. 2000558 ◽  
Author(s):  
Yunus Çolak ◽  
Børge G. Nordestgaard ◽  
Shoaib Afzal
Keyword(s):  
Lung Cancer ◽  
Cystic Fibrosis ◽  
Overall Survival ◽  
General Population ◽  
Chronic Bronchitis ◽  
Morbidity And Mortality ◽  
Airflow Limitation ◽  
Single Individual ◽  
General Population Study

Cystic fibrosis (CF) is caused by autosomal-recessive inheritance of a dysfunctional cystic fibrosis transmembrane conductance regulator (CFTR), up to 90% due to Phe508del mutation in the CFTR gene. We tested the hypothesis that CFTR Phe508del carriers have increased morbidity and mortality versus non-carriers in the general population.We genotyped 108 035 randomly selected white Danish individuals from the Copenhagen General Population Study (aged from 20–100 years) for CFTR Phe508del mutation (rs113993960). Risk of chronic bronchitis and airflow limitation was assessed cross-sectionally. Overall survival and risk of bronchiectasis, lung cancer, pneumonia, chronic rhinosinusitis, airway bleeding, spontaneous pneumothorax, respiratory failure, acute and chronic pancreatitis, liver cirrhosis, ileus, gastric and colorectal cancer, and male infertility were assessed prospectively during up to 15 years of follow-up (median: 9 years). A single individual was excluded due to homozygosity for CFTR Phe508del and known CF. No other individuals had diagnosed CF at baseline examination or during follow-up.Among the resulting 108 034 individuals, 105 176 (97%) were non-carriers and 2858 (3%) were carriers (i.e. were heterozygous for CFTR Phe508del). Overall survival was similar between carriers and non-carriers. Compared to non-carriers and with multivariable adjustment, carriers had an odds ratio (OR) of 1.31 (95% CI 1.16–1.48) for chronic bronchitis, a hazard ratio (HR) of 1.88 (95% CI 1.03–3.45) for bronchiectasis and 1.52 (95% CI 1.12–2.08) for lung cancer. Carriers did not differ from non-carriers concerning lung function or any other morbidity outcomes as mentioned above.In the general population, carriers of CFTR Phe508del have a normal lifespan but an increased risk of chronic bronchitis (1.3-fold), bronchiectasis (1.9-fold) and lung cancer (1.5-fold).

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