scholarly journals Identification of a Novel Genetic Marker for Risk of Degenerative Rotator Cuff Disease Surgery in the UK Biobank

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Elizabeth L. Yanik ◽  
Jay D. Keener ◽  
Shiow J. Lin ◽  
Graham A. Colditz ◽  
Rick W. Wright ◽  
...  
Keyword(s):  
Rotator Cuff ◽  
Genetic Marker ◽  
Uk Biobank ◽  
Rotator Cuff Disease ◽  
The Uk

scholarly journals Risk factors for surgery due to rotator cuff disease in a population-based cohort

2020 ◽  
Vol 102-B (3) ◽  
pp. 352-359 ◽  
Author(s):  
Elizabeth L. Yanik ◽  
Graham A. Colditz ◽  
Rick W. Wright ◽  
Nancy L. Saccone ◽  
Bradley A. Evanoff ◽  
...  
Keyword(s):  
Risk Factors ◽  
Rotator Cuff ◽  
Population Based ◽  
Cox Proportional Hazards ◽  
Rotator Cuff Disease ◽  
Physical Demands ◽  
Deprivation Score ◽  
Male Sex ◽  
The Uk ◽  
Occupational Physical Demands

Aims Few risk factors for rotator cuff disease (RCD) and corresponding treatment have been firmly established. The aim of this study was to evaluate the relationship between numerous risk factors and the incidence of surgery for RCD in a large cohort. Methods A population-based cohort of people aged between 40 and 69 years in the UK (the UK Biobank) was studied. People who underwent surgery for RCD were identified through a link with NHS inpatient records covering a mean of eight years after enrolment. Multivariate Cox proportional hazards regression was used to calculate hazard ratios (HRs) as estimates of associations with surgery for RCD accounting for confounders. The risk factors which were considered included age, sex, race, education, Townsend deprivation index, body mass index (BMI), occupational demands, and exposure to smoking. Results Of the 421,894 people who were included, 47% were male. The mean age at the time of enrolment was 56 years (40 to 69). A total of 2,156 people were identified who underwent surgery for RCD. Each decade increase in age was associated with a 55% increase in the incidence of RCD surgery (95% confidence interval (CI) 46% to 64%). Male sex, non-white race, lower deprivation score, and higher BMI were significantly associated with a higher risk of surgery for RCD (all p < 0.050). Greater occupational physical demands were significantly associated with higher rates of RCD surgery (HR = 2.1, 1.8, and 1.4 for ‘always’, ‘usually’, and ‘sometimes’ doing heavy manual labour vs ‘never’, all p < 0.001). Former smokers had significantly higher rates of RCD surgery than those who had never smoked (HR 1.23 (95% CI 1.12 to 1.35), p < 0.001), while current smokers had similar rates to those who had never smoked (HR 0.94 (95% CI 0.80 to 1.11)). Among those who had never smoked, the risk of surgery was higher among those with more than one household member who smoked (HR 1.78 (95% CI 1.08 to 2.92)). The risk of RCD surgery was not significantly related to other measurements of secondhand smoking. Conclusion Many factors were independently associated with surgery for RCD, including older age, male sex, higher BMI, lower deprivation score, and higher occupational physical demands. Several of the risk factors which were identified are modifiable, suggesting that the healthcare burden of RCD might be reduced through the pursuit of public health goals, such as reducing obesity and modifying occupational demands. Cite this article: Bone Joint J 2020;102-B(3):352–359

Sleep Impairment

2009 ◽  
Vol 14 (3) ◽  
pp. 7-10
Author(s):  
Craig Uejo ◽  
Stephen Demeter
Keyword(s):  
Rotator Cuff ◽  
Distal Clavicle ◽  
Rotator Cuff Disease ◽  
Degenerative Arthritis ◽  
Sixth Edition ◽  
Cuff Tear ◽  
Shoulder Region ◽  
Illness Causation ◽  
Traumatic Rotator Cuff Tear ◽  
Distal Clavicle Resection

Abstract In the AMAGuides to the Evaluation of Permanent Impairment (AMA Guides), Sixth Edition, distal clavicle resection (resection arthroplasty of the acromioclavicular joint [ACJ]) results in ratable impairment, but only a single diagnosis within a region may be rated. Therefore, if another impairing condition is present in the shoulder region (eg, impingement syndrome or rotator cuff disease) only that resulting in the greatest causally related impairment is rated. In the setting of an occupational or other compensable injury or illness, causation of the impairment often is a key issue because, typically, only impairment that is causally related to the injury can be rated. For example, assume that a lifting injury at work caused a tear in a rotator cuff tendon that was already attenuated by repetitive impingement on inferiorly projecting spurs from longstanding degenerative arthritis of the ACJ. If surgery was performed for a traumatic rotator cuff tear and the distal clavicle also was resected due to preexisting ACJ arthritis, the latter surgery is not considered to be related to the injury. In other words, because the ACJ arthritis was neither caused nor worsened by the injury, this condition is not rated. The distal clavicular resection may have been warranted to diminish pain due to ACJ arthritis and/or eliminate the distal clavicle as a source of impingement.

Low birthweight is associated with poorer limb muscle mass and grip strength in middle age: findings from the UK Biobank Imaging Enhancement

2019 ◽  
Author(s):  
Elizabeth Curtis ◽  
Justin Liu ◽  
Kate Ward ◽  
Karen Jameson ◽  
Zahra Raisi-Estabragh ◽  
...  
Keyword(s):  
Grip Strength ◽  
Muscle Mass ◽  
Low Birthweight ◽  
Middle Age ◽  
Limb Muscle ◽  
Uk Biobank ◽  
The Uk

Contrasting Broad- and Clinically- defined Polygenic Indicators of Depression and Depression-related Phenotypes in Adults and Children

2020 ◽  
Author(s):  
John E. McGeary ◽  
Chelsie Benca-Bachman ◽  
Victoria Risner ◽  
Christopher G Beevers ◽  
Brandon Gibb ◽  
...  
Keyword(s):  
Suicidal Ideation ◽  
Cognitive Reappraisal ◽  
Twin Studies ◽  
European Ancestry ◽  
Summary Statistics ◽  
Depression Severity ◽  
Uk Biobank ◽  
Polygenic Scores ◽  
Adults And Children ◽  
The Uk

Twin studies indicate that 30-40% of the disease liability for depression can be attributed to genetic differences. Here, we assess the explanatory ability of polygenic scores (PGS) based on broad- (PGSBD) and clinical- (PGSMDD) depression summary statistics from the UK Biobank using independent cohorts of adults (N=210; 100% European Ancestry) and children (N=728; 70% European Ancestry) who have been extensively phenotyped for depression and related neurocognitive phenotypes. PGS associations with depression severity and diagnosis were generally modest, and larger in adults than children. Polygenic prediction of depression-related phenotypes was mixed and varied by PGS. Higher PGSBD, in adults, was associated with a higher likelihood of having suicidal ideation, increased brooding and anhedonia, and lower levels of cognitive reappraisal; PGSMDD was positively associated with brooding and negatively related to cognitive reappraisal. Overall, PGS based on both broad and clinical depression phenotypes have modest utility in adult and child samples of depression.

scholarly journals 699 Sleep Health Traits and COVID-19: Mortality Risk from the UK Biobank

SLEEP ◽  
2021 ◽  
Vol 44 (Supplement_2) ◽  
pp. A273-A273
Author(s):  
Xi Zheng ◽  
Ma Cherrysse Ulsa ◽  
Peng Li ◽  
Lei Gao ◽  
Kun Hu
Keyword(s):  
Risk Factors ◽  
Sleep Apnea ◽  
Sleep Duration ◽  
Sex Education ◽  
Mortality Risk ◽  
Self Report ◽  
Severe Illness ◽  
Uk Biobank ◽  
Sleep Health ◽  
The Uk

Abstract Introduction While there is emerging evidence for acute sleep disruption in the aftermath of coronavirus disease 2019 (COVID-19), it is unknown whether sleep traits contribute to mortality risk. In this study, we tested whether earlier-life sleep duration, chronotype, insomnia, napping or sleep apnea were associated with increased 30-day COVID-19 mortality. Methods We included 34,711 participants from the UK Biobank, who presented for COVID-19 testing between March and October 2020 (mean age at diagnosis: 69.4±8.3; range 50.2–84.6). Self-reported sleep duration (less than 6h/6-9h/more than 9h), chronotype (“morning”/”intermediate”/”evening”), daytime dozing (often/rarely), insomnia (often/rarely), napping (often/rarely) and presence of sleep apnea (ICD-10 or self-report) were obtained between 2006 and 2010. Multivariate logistic regression models were used to adjust for age, sex, education, socioeconomic status, and relevant risk factors (BMI, hypertension, diabetes, respiratory diseases, smoking, and alcohol). Results The mean time between sleep measures and COVID-19 testing was 11.6±0.9 years. Overall, 5,066 (14.6%) were positive. In those who were positive, 355 (7.0%) died within 30 days (median = 8) after diagnosis. Long sleepers (&gt;9h vs. 6-9h) [20/103 (19.4%) vs. 300/4,573 (6.6%); OR 2.09, 95% 1.19–3.64, p=0.009), often daytime dozers (OR 1.68, 95% 1.04–2.72, p=0.03), and nappers (OR 1.52, 95% 1.04–2.23, p=0.03) were at greater odds of mortality. Prior diagnosis of sleep apnea also saw a two-fold increased odds (OR 2.07, 95% CI: 1.25–3.44 p=0.005). No associations were seen for short sleepers, chronotype or insomnia with COVID-19 mortality. Conclusion Data across all current waves of infection show that prior sleep traits/disturbances, in particular long sleep duration, daytime dozing, napping and sleep apnea, are associated with increased 30-day mortality after COVID-19, independent of health-related risk factors. While sleep health traits may reflect unmeasured poor health, further work is warranted to examine the exact underlying mechanisms, and to test whether sleep health optimization offers resilience to severe illness from COVID-19. Support (if any) NIH [T32GM007592 and R03AG067985 to L.G. RF1AG059867, RF1AG064312, to K.H.], the BrightFocus Foundation A2020886S to P.L. and the Foundation of Anesthesia Education and Research MRTG-02-15-2020 to L.G.

scholarly journals Use of SNP chips to detect rare pathogenic variants: retrospective, population based diagnostic evaluation

BMJ ◽  
2021 ◽  
pp. n214
Author(s):  
Weedon MN ◽  
Jackson L ◽  
Harrison JW ◽  
Ruth KS ◽  
Tyrrell J ◽  
...  
Keyword(s):  
Positive Predictive Value ◽  
Predictive Value ◽  
Population Based ◽  
Genome Project ◽  
Personal Genome ◽  
Uk Biobank ◽  
Sequencing Data ◽  
Snp Chip ◽  
Pathogenic Variants ◽  
The Uk

Abstract Objective To determine whether the sensitivity and specificity of SNP chips are adequate for detecting rare pathogenic variants in a clinically unselected population. Design Retrospective, population based diagnostic evaluation. Participants 49 908 people recruited to the UK Biobank with SNP chip and next generation sequencing data, and an additional 21 people who purchased consumer genetic tests and shared their data online via the Personal Genome Project. Main outcome measures Genotyping (that is, identification of the correct DNA base at a specific genomic location) using SNP chips versus sequencing, with results split by frequency of that genotype in the population. Rare pathogenic variants in the BRCA1 and BRCA2 genes were selected as an exemplar for detailed analysis of clinically actionable variants in the UK Biobank, and BRCA related cancers (breast, ovarian, prostate, and pancreatic) were assessed in participants through use of cancer registry data. Results Overall, genotyping using SNP chips performed well compared with sequencing; sensitivity, specificity, positive predictive value, and negative predictive value were all above 99% for 108 574 common variants directly genotyped on the SNP chips and sequenced in the UK Biobank. However, the likelihood of a true positive result decreased dramatically with decreasing variant frequency; for variants that are very rare in the population, with a frequency below 0.001% in UK Biobank, the positive predictive value was very low and only 16% of 4757 heterozygous genotypes from the SNP chips were confirmed with sequencing data. Results were similar for SNP chip data from the Personal Genome Project, and 20/21 individuals analysed had at least one false positive rare pathogenic variant that had been incorrectly genotyped. For pathogenic variants in the BRCA1 and BRCA2 genes, which are individually very rare, the overall performance metrics for the SNP chips versus sequencing in the UK Biobank were: sensitivity 34.6%, specificity 98.3%, positive predictive value 4.2%, and negative predictive value 99.9%. Rates of BRCA related cancers in UK Biobank participants with a positive SNP chip result were similar to those for age matched controls (odds ratio 1.31, 95% confidence interval 0.99 to 1.71) because the vast majority of variants were false positives, whereas sequence positive participants had a significantly increased risk (odds ratio 4.05, 2.72 to 6.03). Conclusions SNP chips are extremely unreliable for genotyping very rare pathogenic variants and should not be used to guide health decisions without validation.

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