Impact of Human Donor Lung Gene Expression Profiles on Survival after Lung Transplantation: A Case-Control Study

Background: Impaired healing after rotator cuff repair is a major concern, with retear rates as high as 94%. A method to predict whether patients are likely to experience poor surgical outcomes would change clinical practice. While various patient factors, such as age and tear size, have been linked to poor functional outcomes, it is currently very challenging to predict outcomes before surgery. Purpose: To evaluate gene expression differences in tissue collected during surgery between patients who ultimately went on to have good outcomes and those who experienced a retear, in an effort to determine if surgical outcomes can be predicted. Study Design: Case-control study; Level of evidence, 3. Methods: Rotator cuff tissue was collected at the time of surgery from 140 patients. Patients were tracked for a minimum of 6 months to identify those with good or poor outcomes, using clinical functional scores and follow-up magnetic resonance imaging to confirm failure to heal or retear. Gene expression differences between 8 patients with poor outcomes and 28 patients with good outcomes were assessed using a multiplex gene expression analysis via NanoString and a custom-curated panel of 145 genes related to various stages of rotator cuff healing. Results: Although significant differences in the expression of individual genes were not observed, gene set enrichment analysis highlighted major differences in gene sets. Patients who had poor healing outcomes showed greater expression of gene sets related to extracellular matrix production ( P < .0001) and cellular biosynthetic pathways ( P < .001), while patients who had good healing outcomes showed greater expression of genes associated with the proinflammatory (M1) macrophage phenotype ( P < .05). Conclusion: These results suggest that a more proinflammatory, fibrotic environment before repair may play a role in poor healing outcome. With validation in a larger cohort, these results may ultimately lead to diagnostic methods to preoperatively predict those at risk for poor surgical outcomes.

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Cannabis-Dependence Risk Relates to Synergism between Neuroticism and Proenkephalin SNPs Associated with Amygdala Gene Expression: Case-Control Study

PLoS ONE ◽

10.1371/journal.pone.0039243 ◽

2012 ◽

Vol 7 (6) ◽

pp. e39243 ◽

Cited By ~ 28

Author(s):

Didier Jutras-Aswad ◽

Michelle M. Jacobs ◽

Georgia Yiannoulos ◽

Panos Roussos ◽

Panos Bitsios ◽

...

Keyword(s):

Gene Expression ◽

Case Control Study ◽

Case Control ◽

Cannabis Dependence ◽

Control Study

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Correction: The NOD-Like Receptor Signalling Pathway in Helicobacter pylori Infection and Related Gastric Cancer: A Case-Control Study and Gene Expression Analyses

PLoS ONE ◽

10.1371/journal.pone.0117870 ◽

2015 ◽

Vol 10 (1) ◽

pp. e0117870 ◽

Cited By ~ 6

Author(s):

Keyword(s):

Gene Expression ◽

Gastric Cancer ◽

Helicobacter Pylori ◽

Case Control Study ◽

Case Control ◽

Signalling Pathway ◽

Helicobacter Pylori Infection ◽

Receptor Signalling ◽

Gene Expression Analyses ◽

Control Study

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Implantation Failure Is Associated With Increased α-Inhibin and β-Glycan Gene Expression in Secretory Phase Endometrium: Nested Case–Control Study of Infertile Women Undergoing IVF/Fresh Embryo Transfer

Reproductive Sciences ◽

10.1177/1933719116667490 ◽

2016 ◽

Vol 24 (5) ◽

pp. 720-725 ◽

Cited By ~ 6

Author(s):

Camila O. Silveira ◽

Carolina P. Rezende ◽

Márcia C. Ferreira ◽

Helen L. Del Puerto ◽

Fernando M. Reis

Keyword(s):

Gene Expression ◽

Embryo Transfer ◽

Case Control Study ◽

Case Control ◽

Implantation Failure ◽

Fresh Embryo Transfer ◽

Secretory Phase ◽

Infertile Women ◽

Nested Case Control ◽

Control Study

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Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study

eLife ◽

10.7554/elife.67569 ◽

2021 ◽

Vol 10 ◽

Author(s):

Chiara Fallerini ◽

Sergio Daga ◽

Stefania Mantovani ◽

Elisa Benetti ◽

Nicola Picchiotti ◽

...

Keyword(s):

Gene Expression ◽

Case Control Study ◽

Susceptibility Gene ◽

Case Control ◽

Type I ◽

Loss Of Function ◽

Extreme Phenotype ◽

Male Patients ◽

Nested Case Control ◽

Control Study

Background: Recently, loss-of-function variants in TLR7 were identified in two families in which COVID-19 segregates like an X-linked recessive disorder environmentally conditioned by SARS-CoV-2. We investigated whether the two families represent the tip of the iceberg of a subset of COVID-19 male patients. Methods: This is a nested case-control study in which we compared male participants with extreme phenotype selected from the Italian GEN-COVID cohort of SARS-CoV-2-infected participants (<60y, 79 severe cases versus 77 control cases). We applied the LASSO Logistic Regression analysis, considering only rare variants on young male subsets with extreme phenotype, picking up TLR7 as the most important susceptibility gene. Results: Overall, we found TLR7 deleterious variants in 2.1% of severely affected males and in none of the asymptomatic participants. The functional gene expression profile analysis demonstrated a reduction in TLR7-related gene expression in patients compared with controls demonstrating an impairment in type I and II IFN responses. Conclusion: Young males with TLR7 loss-of-function variants and severe COVID-19 represent a subset of male patients contributing to disease susceptibility in up to 2% of severe COVID-19.

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