OBJECTIVE: To investigate the genetics of depression among individuals of East Asian and European descent living in different geographic locations, and with different outcome definitions for depression.
DESIGN, SETTING, AND PARTICIPANTS: Genome-wide association analyses followed by meta-analysis, which included data from 9 cohort and case-control data sets comprising individuals with depression and control individuals of East Asian descent. This study was conducted between January 2019 and May 2021.
EXPOSURES: Associations of genetic variants with depression risk were assessed using generalized linear mixed models and logistic regression. The results were combined across studies using fixed-effects meta-analyses. These were subsequently also meta-analyzed with the largest published GWAS for depression among individuals of European descent. Additional meta-analyses were carried out separately by outcome definition (clinical depression vs symptom-based depression) and region (East Asian countries vs Western countries) for East Asian ancestry cohorts.
MAIN OUTCOMES AND MEASURES: Depression status was defined based on health records and self-report questionnaires.
RESULTS: There were a total of 194 548 study participants (approximate mean age, 51.3 years; 62.8% women). Participants included 15 771 individuals with depression and 178 777 control individuals of East Asian descent. Five novel associations were identified, including 1 in the meta-analysis for broad depression among those of East Asian descent: rs4656484 (β = -0.018, SE = 0.003, P = 4.43x10-8) at 1q24.1. Another locus at 7p21.2 was associated in a meta-analysis restricted to geographically East Asian studies (β = 0.028, SE = 0.005, P = 6.48x10-9 for rs10240457). The lead variants of these 2 novel loci were not associated with depression risk in European ancestry cohorts (β = -0.003, SE = 0.005, P = .53 for rs4656484 and β = -0.005, SE = 0.004, P = .28 for rs10240457). Only 11% of depression loci previously identified in individuals of European descent reached nominal significance levels in the individuals of East Asian descent. The transancestry genetic correlation between cohorts of East Asian and European descent for clinical depression was r = 0.413 (SE = 0.159). Clinical depression risk was negatively genetically correlated with body mass index in individuals of East Asian descent (r = -0.212, SE = 0.084), contrary to findings for individuals of European descent.
CONCLUSIONS AND RELEVANCE: These results support caution against generalizing findings about depression risk factors across populations and highlight the need to increase the ancestral and geographic diversity of samples with consistent phenotyping.
METHODS: A total of 1114 subjects comprising of 536 PD patients and 578 healthy controls of Malay ancestry were recruited and genotyped using Taqman® allelic discrimination assays.
RESULTS: The G allele of rs10513789 (OR = 0.83, p = 0.001) and A allele of rs12637471 (OR = 0.79, p = 0.007) in the MCCC1/LAMP3 locus were associated with a protective effect against developing PD in the Malay population. A recessive model of penetrance showed a protective effect of the GG genotype for rs10513789 and the AA genotype for rs12637471. No association with PD was found with the other MCCC1/LAMP3 rs12493050 variant or with the DGKQ (rs11248060) variant. No significant associations were found between the four variants with the age at PD diagnosis.
CONCLUSION: MCCC1/LAMP3 variants rs10513789 and rs12637471 protect against PD in the Malay population.
METHOD: This interventional cohort pilot study on patients with Eustachian tube dysfunction compared those with nasopharyngeal carcinoma to patients without. Outcome assessment was based on tympanometry type and Eustachian Tube Dysfunction Questionnaire score.
RESULTS: A total of 14 ears (12 patients) were tested. Only 14 per cent of the nasopharyngeal carcinoma cohort showed improvement, while 71 per cent of the non-nasopharyngeal carcinoma group were successfully treated. No significant adverse effect was reported in any patient during this study.
CONCLUSION: Balloon Eustachian tube dilatation was not shown to be beneficial for post-radiotherapy Eustachian tube dysfunction in nasopharyngeal carcinoma patients in the preliminary stages of this pilot study.
METHODS: In this work, we performed a systematic review and meta-analysis to precisely examine the association between circulating levels of leptin and adiponectin and CRC risk. A systematic literature search was performed in PubMed/MEDLINE, Scopus, Web of Science, and EMBASE databases from inception until October 2020. The pooled effect size was then estimated by calculating the odds ratio (OR).
RESULTS: A total of 23 records (comprising 26 studies) were included in the meta-analysis. The overall analysis found that circulating levels of leptin and adiponectin were not significantly associated with CRC risk (P > 0.05). Interestingly, subgroup analysis revealed that a higher level of adiponectin was significantly associated with an increased CRC risk among overweight individuals (OR = 1.16; 95 % CI: 1.02, 1.32), and a decreased CRC risk among normal weight individuals (OR = 0.76; 95 % CI: 0.62, 0.92). Besides, a higher level of adiponectin was also significantly associated with a decreased risk of CRC in men (OR = 0.76; 95 % CI: 0.59, 0.98).
CONCLUSIONS: In conclusion, circulating leptin level was not associated with CRC risk, but that of adiponectin was associated with CRC risk only in specific subgroups.
METHODS: Sixty-one participants were recruited into a vapers group and a control group. The vapers group was instructed to smoke for 5 minutes, and their nasal resistance was measured pre-procedure and at 1 and 5 minutes post-procedure. The results were compared between both groups.
RESULTS: Repeated measures analysis of variance demonstrated that vaping has no statistically significant effect on total nasal airway resistance.
CONCLUSION: Although the differences between both groups were not statistically significant overall, the vapers group showed a reduction in nasal airway resistance in the short term.
MATERIAL AND METHODS: The case-control study was conducted among 116 cases identified through passive surveillance systems over three years.The control subjects were 232 living in the same village for more than six months without any history of ST infection were selected by matching to the age (within 5-years) and identified through active surveillance. Statistical analyses were performed using SPSS v. 25.0 for Windows (IBM SPSS, Chicago, IL, USA).
RESULTS: The mean age of confirmed persons was 58.1(SD=10.15) years, while control subjects were 56.14 (11.57).There is no significant difference in gender, age, education, and occupations between case and control. Farmers had the most significant number of cases among occupational groups. The three factors that were significantly associated with an increased odds of having ST infection are bundling or moving waste straw (OR: 1.94, 95%CI; 0.99,381), morning exercise in the park or field (OR: 4.74 95%CI; 1.19, 18.95), and working as labourer in the vegetable field (OR:1.02, 95%CI:1.02,3.19).
CONCLUSIONS: Our findings suggested establishing a prevention and control strategy for these groups to lower ST development risk.
METHODS: An interdisciplinary case-control study (60 psoriasis patients and 40 control subjects) to look at the differences in ocular surface manifestations between patients with psoriasis and a group of age-, gender- and ethnicity-matched healthy controls.
RESULTS: One hundred and twenty eyes of 60 patients with psoriasis and 80 eyes of 40 healthy controls without psoriasis were included in the study. Mild-to-moderate psoriasis was found in 42 patients (70%), while 18 patients (30%) had severe psoriasis. Psoriatic arthritis was found in 19 patients (32%). Of the 60 psoriatic patients, the prevalence of ocular involvement was 65% (39/60), in which 32% (19/60) had dry eyes, 27% (16/60) had lid margin abnormalities, 33% (20/60) had cataract, and one had history of anterior uveitis. Compared to controls, ocular surface of psoriatic patients showed more eyelid margin abnormalities, higher meibomian gland loss and lower tear film break-up time. The estimated odds ratio for dry eyes in the psoriasis group was 2.2 (95% CI: 0.8-6.9).
CONCLUSION: Ocular surface disorders encompassing eyelid margin abnormalities, meibomian gland loss and tear dysfunction occur at an earlier and higher rate among psoriatic patients.
METHODS: A gender-matched case-control study was conducted in the largest public sector cardiac hospital of Pakistan, and the data of 460 subjects were collected. The dataset comprised of eight nonclinical features. Four supervised ML algorithms were used to train and test the models to predict the CVDs status by considering traditional logistic regression (LR) as the baseline model. The models were validated through the train-test split (70:30) and tenfold cross-validation approaches.
RESULTS: Random forest (RF), a nonlinear ML algorithm, performed better than other ML algorithms and LR. The area under the curve (AUC) of RF was 0.851 and 0.853 in the train-test split and tenfold cross-validation approach, respectively. The nonclinical features yielded an admissible accuracy (minimum 71%) through the LR and ML models, exhibiting its predictive capability in risk estimation.
CONCLUSION: The satisfactory performance of nonclinical features reveals that these features and flexible computational methodologies can reinforce the existing risk prediction models for better healthcare services.
METHODS: In this study, plasma miRNA profiles from eight early-stage breast cancer patients and nine age-matched (± 2 years) healthy controls were characterized by miRNA array-based approach, followed by differential gene expression analysis, Independent T-test and construction of Receiver Operating Characteristic (ROC) curve to determine the capability of the assays to discriminate between breast cancer and the healthy control.
RESULTS: Based on the 372-miRNAs microarray profiling, a set of 40 differential miRNAs was extracted regarding to the fold change value at 2 and above. We further sub grouped 40 miRNAs of breast cancer patients that were significantly expressed at 2-fold change and higher. In this set, we discovered that 24 miRNAs were significantly upregulated and 16 miRNAs were significantly downregulated in breast cancer patients, as compared to the miRNA expression of healthy subjects. ROC curve analysis revealed that seven miRNAs (miR-125b-5p, miR-142-3p, miR-145-5p, miR-193a-5p, miR-27b-3p, miR-22-5p and miR-423-5p) had area under curve (AUC) value > 0.7 (AUC p-value < 0.05). Overlapping findings from differential gene expression analysis, ROC analysis, and Independent T-Test resulted in three miRNAs (miR-27b-3p, miR-22-5p, miR-145-5p). Cohen's effect size for these three miRNAs was large with d value are more than 0.95.
CONCLUSION: miR-27b-3p, miR-22-5p, miR-145-5p could be potential biomarkers to distinguish breast cancer patients from healthy controls. A validation study for these three miRNAs in an external set of samples is ongoing.
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