Racial disparities in colorectal cancer outcomes and access to care: a multi-cohort analysis.

Introduction: Non-Hispanic Black (NHB) Americans have a higher incidence of colorectal cancer (CRC) and worse survival than non-Hispanic white (NHW) Americans, but the relative contributions of biological versus access to care remain poorly characterized. This study used two nationwide cohorts in different healthcare contexts to study health system effects on this disparity. Methods: We used data from the Surveillance, Epidemiology, and End Results (SEER) registry as well as the United States Veterans Health Administration (VA) to identify adults diagnosed with colorectal cancer between 2010 and 2020 who identified as non-Hispanic Black (NHB) or non-Hispanic white (NHW). Stratified survival analyses were performed using a primary endpoint of overall survival, and sensitivity analyses were performed using cancer-specific survival. Results: We identified 263,893 CRC patients in the SEER registry (36,662 (14%) NHB; 226,271 (86%) NHW) and 24,375 VA patients (4,860 (20%) NHB; 19,515 (80%) NHW). In the SEER registry, NHB patients had worse OS than NHW patients: median OS of 57 months (95% confidence interval (CI) 55-58) versus 72 months (95% CI 71-73) (hazard ratio (HR) 1.14, 95% CI 1.12-1.15, p = 0.001). In contrast, VA NHB median OS was 65 months (95% CI 62-69) versus NHW 69 months (95% CI 97-71) (HR 1.02, 95% CI 0.98-1.07, p = 0.375). There was significant interaction in the SEER registry between race and Medicare age eligibility (p < 0.001); NHB race had more effect in patients <65 years old (HR 1.44, 95% CI 1.39-1.49, p < 0.001) than in those ≥65 (HR 1.13, 95% CI 1.11-1.15, p < 0.001). In the VA, age stratification was not significant (p = 0.21). Discussion: Racial disparities in CRC survival in the general US population are significantly attenuated in Medicare-aged patients. This pattern is not present in the VA, suggesting that access to care may be an important component of racial disparities in this disease.

Emergent inequity of glycaemic metrics for Maori children with type 1 diabetes is negated by early use of continuous glucose monitoring.

AIM: We investigated if continuous glucose monitoring (CGM) in children with type 1 diabetes (T1D) within 12 months of being diagnosed modifies the development of glycaemic outcome inequity on the basis of either ethnicity or socio-economic status (SES). METHOD: De-identified clinical and SES data from the KIWIDIAB data network were collected 12 months after diagnosis in children under 15 years diagnosed with T1D between 1 October 2020 and 1 October 2021. RESULTS: There were 206 children with new onset T1D: CGM use was 56.7% for Maori and 77.2% for Europeans. Mean (SD) HbA1c was 62.4 (14.2) mmol/mol at 12 months post diagnosis, but Maori were 9.4mmol/mol higher compared to Europeans (p<0.001). For those without CGM, Maori had an HbA1c 10.8 (95% CI 2.3 to 19.4, p=0.013) mmol/mol higher than Europeans, whereas there was no evidence of a difference between Maori and Europeans using CGM (62.1 [9.3] mmol/mol vs 58.5 [12.4] mmol/mol p=0.53 respectively). Comparing quintiles of SES, HbA1c was 10.8 (95% CI 4.7 to 16.9, p<0.001) mmol/mol higher in the lowest quintile of SES compared to the highest. CONCLUSION: These observational data suggest CGM use ameliorates the ethnic disparity in HbA1c at 12 months in new onset T1D.

Use of Maternal Race and Weight Provides Equitable Performance in Serum Screening for Open Neural Tube Defects.

BACKGROUND: Maternal serum alpha-fetoprotein (AFP) levels are used in screening for open neural tube defects (ONTD). Historical reports show that AFP levels and maternal weights are higher in self-reported Black than White individuals, but recent reports question the need to account for these variables in screening. Our study compares screening performance with and without accounting for race. METHODS: Retrospective analysis was performed on deidentified prenatal screening records including maternal weight and self-reported race of White or Black. Gestational age-specific medians and weight-adjusted multiples of the median levels were calculated separately for each group and using a race-agnostic analysis. Outcome measures included the proportion of screen-positive results. RESULTS: Records for analysis (n = 13 316) had an ultrasound confirmed gestational age between 15 and 21 completed weeks, singleton pregnancy, and self-reported race. Race was Black for 26.3%. AFP levels for pregnancies in Black individuals were higher than in White individuals: 6% to 11% depending on gestational age. Race-specific gestational age and maternal weight analyses resulted in similar screen-positive rates for self-reported White and Black individuals at 0.74% vs 1.00%, respectively (P = 0.14). However, use of race-agnostic analyses resulted in a screen-positive rate that was 2.4 times higher in Black than White individuals (P < 0.001). CONCLUSION: These data show that the historical method of accounting for maternal race and weight in prenatal screening for ONTD provides equitable performance. Using a race-agnostic methodology results in an increased screen-positive rate and a disproportionate rate of required follow-up care for individuals who self-identify as Black.

Comparison Between Black Non-Hispanic and White Non-Hispanic Simultaneous Pancreas-Kidney Transplant Candidates and Recipients.

INTRODUCTION: This study examined simultaneous pancreas-kidney transplant (SPKt) in Black and White patients to identify disparities in transplantation, days on the waitlist, and reasons for SPKt waitlist removal. METHODS: Using the United Network for Organ Sharing Standard Transplant Analysis and Research file, patients between January 1, 2009, and May 31, 2021, were included. Three cohorts (overall, SPKt recipients only, and those not transplanted) were selected using propensity score matching. Conditional logistic regression was used for categorical outcomes. Days on the waitlist were compared using negative binomial regression. RESULTS: Black patients had increased odds of receiving a  SPKt (OR, 1.25 [95% CI, 1.11-1.40], p < 0.001). White patients had increased odds of receiving a kidney-only transplant (OR 0.48 [95% CI, 0.38-0.61], p < 0.001), and specifically increased odds of receiving a living donor kidney (OR 0.34 [0.25-0.45], p < 0.001). CONCLUSION: This study found that Black patients are more likely to receive a SPKt. Results suggest that there are opportunities for additional inquiry related to patient removal from the waitlist, particularly considering White patients received or accepted more kidney-only transplants and were more likely to receive a living donor kidney-only transplant.

Population-Specific gene expression profiles in prostate cancer: insights from Weighted Gene Co-expression Network Analysis (WGCNA).

This study investigates the genetic factors contributing to the disparity in prostate cancer incidence and progression among African American men (AAM) compared to European American men (EAM). The research focuses on employing Weighted Gene Co-expression Network Analysis (WGCNA) on public microarray data obtained from prostate cancer patients. The study employed WGCNA to identify clusters of genes with correlated expression patterns, which were then analyzed for their connection to population backgrounds. Additionally, pathway enrichment analysis was conducted to understand the significance of the identified gene modules in prostate cancer pathways. The Least Absolute Shrinkage and Selection Operator (LASSO) and Correlation-based Feature Selection (CFS) methods were utilized for selection of biomarker genes. The results revealed 353 differentially expressed genes (DEGs) between AAM and EAM. Six significant gene expression modules were identified through WGCNA, showing varying degrees of correlation with prostate cancer. LASSO and CFS methods pinpointed critical genes, as well as six common genes between both approaches, which are indicative of their vital role in the disease. The XGBoost classifier validated these findings, achieving satisfactory prediction accuracy. Genes such as APRT, CCL2, BEX2, MGC26963, and PLAU were identified as key genes significantly associated with cancer progression. In conclusion, the research underlines the importance of incorporating AAM and EAM population diversity in genomic studies, particularly in cancer research. In addition, the study highlights the effectiveness of integrating machine learning techniques with gene expression analysis as a robust methodology for identifying critical genes in cancer research.

Betaine and I-LG may have a predictive value for ATB: A causal study in a large European population.

PURPOSE: To analyze the causal relationship between 486 human serum metabolites and the active tuberculosis (ATB) in European population. METHODS: In this study, the causal relationship between human serum metabolites and the ATB was analyzed by integrating the genome-wide association study (GWAS). The 486 human serum metabolites were used as the exposure variable, three different ATB GWAS databases in the European population were set as outcome variables, and single nucleotide polymorphisms were used as instrumental variables for Mendelian Randomization. The inverse variance weighting was estimated causality, the MR-Egger intercept to estimate horizontal pleiotropy, and the combined effects of metabolites were also considered in the meta-analysis. Furthermore, the web-based MetaboAnalyst 6.0 was engaged for enrichment pathway analysis, while R (version 4.3.2) software and Review Manager 5.3 were employed for statistical analysis. RESULTS: A total of 21, 17, and 19 metabolites strongly associated with ATB were found in the three databases after preliminary screening (P < 0.05). The intersecting metabolites across these databases included tryptophan, betaine, 1-linoleoylglycerol (1-monolinolein) (1-LG), 1-eicosatrienoylglycerophosphocholine, and oleoylcarnitine. Among them, betaine (I2 = 24%, P = 0.27) and 1-LG (I2 = 0%, P = 0.62) showed the lowest heterogeneity among the different ATB databases. In addition, the metabolic pathways of phosphatidylethanolamine biosynthesis (P = 0.0068), methionine metabolism (P = 0.0089), betaine metabolism (P = 0.0205) and oxidation of branched-chain fatty acids (P = 0.0309) were also associated with ATB. CONCLUSION: Betaine and 1-LG may be biomarkers or auxiliary diagnostic tools for ATB. They may provide new guidance for medical practice in the early diagnosis and surveillance of ATB. In addition, by interfering with phosphatidylethanolamine biosynthesis, methionine metabolism, betaine metabolism, oxidation of branched-chain fatty acids, and other pathways, it is helpful to develop new anti-tuberculosis drugs and explore the virulence or pathogenesis of ATB at a deeper level, providing an effective reference for future studies.

Exploring the causal association between uric acid and lung cancer in east Asian and European populations: a mendelian randomization study.

BACKGROUND: Lung cancer still ranks first in the mortality rate of cancer. Uric acid is a product of purine metabolism in humans. Its presence in the serum is controversial; some say that its high levels have a protective effect against tumors, others say the opposite, that is, high levels increase the risk of cancer. Therefore, the aim of this study was to investigate the potential causal association between serum uric acid levels and lung cancer. METHODS: Mendelian randomization was used to achieve our aim. Sensitivity analyses was performed to validate the reliability of the results, followed by reverse Mendelian analyses to determine a potential reverse causal association. RESULTS: A significant causal association was found between serum uric acid levels and lung cancer in East Asian and European populations. Further sublayer analysis revealed a significant causal association between uric acid and small cell lung cancer, while no potential association was observed between uric acid and non-small cell lung cancer, squamous lung cancer, and lung adenocarcinoma. The sensitivity analyses confirmed the reliability of the results. Reverse Mendelian analysis showed no reverse causal association between uric acid and lung cancer. CONCLUSIONS: The results of this study suggested that serum uric acid levels were negatively associated with lung cancer, with uric acid being a potential protective factor for lung cancer. In addition, uric acid level monitoring was simple and inexpensive. Therefore, it might be used as a biomarker for lung cancer, promoting its wide use clinical practice.

[Identification of novel genetic loci associated with major depressive disorder and the hippocampus in a European population using the condFDR method].

OBJECTIVE: To identify additional loci associated with depression and the hippocampus (HIP) through genome-wide association study. METHODS: The depression-related genome-wide association study (GWAS) meta summary data was downloaded from the official website of the Psychiatric Genomics Consortium, which had involved 170 756 cases and 329 443 controls. The left and right hippocampal volume GWAS data sets were downloaded from the UK Biobank, which involved 33 224 participants. The conditional false discovery rate (condFDR) was used to identify novel genetic loci for depression and left and right hippocampal volumes, and a conjunctional false discovery rate (conjFDR) was used to evaluate the enrichment of pleiotropic loci between depression and left and right hippocampal volumes. RESULTS: Respectively, 7, 13, and 12 new loci have been associated with depression, left hippocampal volume and right hippocampal volume, with a significant threshold of condFDR < 0.01. A site of rs1267073 locus was found to be shared by the depression and right hippocampal volume with a threshold of conjFDR < 0.01. CONCLUSION: Above findings have provided more insights into the genetic mechanisms underlying the volume of hippocampus and the risk for depression. The results may also provide evidence for future clinical trials for treating depression.

Correction to "Defining racial allies: A qualitative investigation of White allyship from the perspective of people of color" by Hinger et al. (2023).

Reports an error in "Defining racial allies: A qualitative investigation of White allyship from the perspective of people of color" by Cassandra L. Hinger, Cirleen DeBlaere, Rebecca Gwira, Michelle Aiello, Arash Punjwani, Laura Cobourne, Ngoc Tran, Madison Lord, Jordan Mike and Carlton Green (Journal of Counseling Psychology, 2023[Nov], Vol 70[6], 631-644). An additional citation was added for the structure of the definition of White allies in the second paragraph of the introduction. The online version of this article has been corrected. (The following abstract of the original article appeared in record 2024-23216-002.) While interdisciplinary scholars and activists urge White allies to engage in racial justice work led by the voices of Black, Indigenous, and people of color (BIPOC), to date, most research on racial allyship has centered exclusively on the perspective of White allies themselves. Thus, the purpose of this study was to create a framework of racial allyship from the perspective of BIPOC. Utilizing constructivist grounded theory (Charmaz, 2014), focus groups were conducted to understand how BIPOC describe the knowledge, skills, and actions of White allies. Participants across eight focus groups described allyship as an ongoing interpersonal process that included a lifelong commitment to (a) building trust, (b) engaging in antiracist action, (c) critical awareness, (d) sociopolitical knowledge, (e) accountability, and (f) communicating and disseminating information. The findings of this study point to several avenues through which White counseling psychologists can incorporate racial allyship in their research, training, clinical, and advocacy work that align with our field's emphasis on social justice, multiculturalism, and prevention. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

Baseline levels and longitudinal changes in plasma Aß42/40 among Black and white individuals.

Blood-based biomarkers of Alzheimer disease (AD) may facilitate testing of historically under-represented groups. The Study of Race to Understand Alzheimer Biomarkers (SORTOUT-AB) is a multi-center longitudinal study to compare AD biomarkers in participants who identify their race as either Black or white. Plasma samples from 324 Black and 1,547 white participants underwent analysis with C2N Diagnostics' PrecivityAD test for Aß42 and Aß40. Compared to white individuals, Black individuals had higher average plasma Aß42/40 levels at baseline, consistent with a lower average level of amyloid pathology. Interestingly, this difference resulted from lower average levels of plasma Aß40 in Black participants. Despite the differences, Black and white individuals had similar longitudinal rates of change in Aß42/40, consistent with a similar rate of amyloid accumulation. Our results agree with multiple recent studies demonstrating a lower prevalence of amyloid pathology in Black individuals, and additionally suggest that amyloid accumulates consistently across both groups.

Implicit bias and experience influence overall but not relative trustworthiness judgment of other-race faces.

Impressions of trustworthiness are formed quickly from faces. To what extent are these impressions shared among observers of the same or different races? Although high consensus of trustworthiness evaluation has been consistently reported, recent studies suggested substantial individual differences. For instance, negative implicit racial bias and low contact experience towards individuals of the other race have been shown to be related to low trustworthiness judgments for other-race faces. This pre-registered study further examined the effects of implicit social bias and experience on trustworthiness judgments of other-race faces. A relatively large sample of White (N = 338) and Black (N = 299) participants completed three tasks: a trustworthiness rating task of faces, a race implicit association test, and a questionnaire of experience. Each participant rated trustworthiness of 100 White faces and 100 Black faces. We found that the overall trustworthiness ratings for other-race faces were influenced by both implicit bias and experience with individuals of the other-race. Nonetheless, when comparing to the own-race baseline ratings, high correlations were observed for the relative differences in trustworthiness ratings of other-race faces for participants with varied levels of implicit bias and experience. These results suggest differential impact of social concepts (e.g., implicit bias, experience) vs. instinct (e.g., decision of approach-vs-avoid) on trustworthiness impressions, as revealed by overall vs. relative ratings on other-race faces.

Associations between modifiable risk factors and hepatocellular carcinoma: a trans-ancestry Mendelian randomization study.

BACKGROUND: Potentially modifiable risk factors for hepatocellular carcinoma (HCC) have been investigated in observational epidemiology studies in East Asian and European populations, whereas the causal associations of most of these risk factors remain unclear. METHODS: We collected genome-wide association summary statistics of 22 modifiable risk factors in East Asians and 33 risk factors in Europeans. Genetic summary statistics of HCC were sourced from the Biobank Japan study (1,866 cases and 195,745 controls) for East Asians, and the deCODE genetics study (406 cases and 49,302 controls) and the UK Biobank (168 cases and 372 016 controls) for Europeans. Two-sample Mendelian randomization (MR) analyses were performed independently for East Asian and European populations. RESULTS: In East Asians, genetically predicted alcohol frequency, ever drinkers, aspartate aminotransferase (AST), hypothyroidism, chronic hepatitis B, and chronic hepatitis C, metabolic dysfunction-associated steatotic liver disease (MASLD), and autoimmune hepatitis were significantly associated with an increased HCC risk (P < 0.05/22). Among European population, alanine transaminase, AST, MASLD, percent liver fat, and liver iron content were significantly associated with a higher risk of HCC (P < 0.05/33). The replication dataset and meta-analysis further confirmed these results. CONCLUSIONS: Although East Asian and European populations have different factors for HCC, their common modifiable risk factors AST and MASLD for HCC, offer valuable insights for targeted intervention strategies to mitigate society burden of HCC.

The impact of air pollution on the facial skin of Caucasian women using real-life pollutant exposure measurements.

BACKGROUND: To date, studies examining the effect of air pollution on skin characteristics have relied on regional pollution estimates obtained from fixed monitoring sites. Hence, there remains a need to characterize the impact of air pollution in vivo in real-time conditions. We conducted an initial investigation under real-life conditions, with the purpose of characterizing the in vivo impact of various pollutants on the facial skin condition of women living in Paris over a 6-month period. MATERIALS AND METHODS: A smartphone application linked to the Breezometer platform was used to collect participants' individual exposures to pollutants through the recovery of global positioning system (GPS) data over a 6-month period. Daily exposure to fine particulate matter (PM 2.5 µm and PM 10 µm), pollen, and air quality was measured. Facial skin color, roughness, pore, hydration, elasticity, and wrinkle measurements were taken at the end of the 6-month period. Participants' cumulated pollutant exposure over 6 months was calculated. Data were stratified into two groups (lower vs. higher pollutant exposure) for each pollutant. RESULTS: 156 women (20-60 years-old) were recruited, with 124 women completing the study. Higher PM 2.5 µm exposure was associated with altered skin color and increased roughness under the eye. Higher PM 10 µm exposure with increased wrinkles and roughness under the eye, increased pore appearance, and decreased skin hydration. Exposure to poorer air quality was linked with increased forehead wrinkles and decreased skin elasticity, while higher pollen exposure increased skin roughness and crow's feet. CONCLUSION: This study suggests a potential correlation between air pollution and facial skin in real-life conditions. Prolonged exposure to PM, gases, and pollen may be linked to clinical signs of skin ageing. This study highlights the importance of longer monitoring over time in real conditions to characterize the effect of pollution on the skin.

Racial disparities and maternal mortality in Brazil: findings from a national database.

OBJECTIVE: To assess maternal mortality (MM) in Brazilian Black, Pardo, and White women. METHODS: We evaluated the maternal mortality rate (MMR) using data from the Brazilian Ministry of Health public databases from 2017 to 2022. We compared MMR among Black, Pardo, and White women according to the region of the country, age, and cause. For statistical analysis, the Q2 test prevalence ratio (PR) and confidence interval (CI) were calculated. RESULTS: From 2017 to 2022, the general MMR was 68.0/100,000 live births (LB). The MMR was almost twice as high among Black women compared to White (125.81 vs 64.15, PR = 1.96, 95%CI:1.84-2.08) and Pardo women (125.8 vs 64.0, PR = 1.96, 95%CI: 1.85-2.09). MMR was higher among Black women in all geographical regions, and the Southeast region reached the highest difference among Black and White women (115.5 versus 60.8, PR = 2.48, 95%CI: 2.03-3.03). During the covid-19 pandemic, MMR increased in all groups of women (Black 144.1, Pardo 74.8 and White 80.5/100.000 LB), and the differences between Black and White (PR = 1.79, 95%CI: 1.64-1.95) and Black and Pardo (PR = 1.92, 95%CI: 1.77-2.09) remained. MMR was significantly higher among Black women than among White or Pardo women in all age ranges and for all causes. CONCLUSION: Black women presented higher MMR in all years, in all geographic regions, age groups, and causes. In Brazil, Black skin color is a key MM determinant. Reducing MM requires reducing racial disparities.

Mate selection and current trends in the prevalence of autism.

BACKGROUND: According to the most recent U.S. CDC surveillance data, the rise in prevalence of childhood autism spectrum disorder among minority children has begun to outpace that of non-Hispanic white children. Since prior research has identified possible differences in the extent of mate selection for autistic traits across families of different ethnicity, this study examined variation in autism related traits in contemporaneous, epidemiologically ascertained samples of spousal pairs representing Hispanic and non-Hispanic white populations. The purpose was to determine whether discrepancies by ethnicity could contribute to differential increases in prevalence in the current generation of young children. METHODS: Birth records were used to identify all twin pairs born between 2011 and 2013 in California and Missouri. Families were selected at random from pools of English-speaking Hispanic families in California and Non-Hispanic White families in Missouri. Autistic trait data of parents was obtained using the Adult Report Form of the Social Responsiveness Scale (SRS-2). RESULTS: We did not identify a statistically significant difference in the degree of mate selection for autism related traits between Hispanic and non-Hispanic white spousal pairs. However, the degree of spousal correlation observed in this recent cohort was pronounced (on the order of ICC 0.45) and exceeded that typically reported in prior research (on the order of 0.30), surpassing also widely reported estimates for sibling correlation (also on the order of 0.30). LIMITATIONS: The sample did not allow for a direct appraisal of change in the magnitude of spousal correlation over time and the ascertainments of trait burden were derived from spouse report. CONCLUSION: Across two epidemiologically ascertained samples of spousal pairs representing Hispanic and non-Hispanic white families across two U.S. states (respectively, California and Missouri), the extent of autism-related trait co-variation for parents of the current generation of young children is substantial and exceeds correlations typically observed for siblings. Given the heritability of these traits and their relation to autism risk, societal trends in the degree of mate selection for these traits should be considered as possible contributors to subtle increases in the incidence of autism over time and across generations.

Evaluating the effect of green tea intake on cardiovascular diseases: A Mendelian randomization study in European and East Asian populations.

Previous research shows that more than 70% of cardiovascular diseases (CVDs) are attributed to modifiable risk factors. Here, we investigated relationship between consumption of green tea in European and East Asian populations and risk of CVDs using Mendelian randomization (MR). Instrumental variables for green tea intake were obtained from genome-wide association studies (GWASs) of 64,949 Europeans and 152,653 East Asians. GWASs for CVDs were derived from UK BioBank and BioBank Japan projects. The main method selected for MR analysis was either the inverse variance weighted (IVW) or Wald ratio, depending on the quantity of single nucleotide polymorphisms. Furthermore, we performed sensitivity analyses to confirm the reliability of the findings. Based on the results of IVW, there is no causal relationship between consumption of green tea and risk of 4 CVDs among Europeans (atrial fibrillation: OR = 1.000, 95% CI: 0.995-1.005, P = .910; heart failure: OR = 1.003, 95% CI: 0.994-1.012, P = .542; ischemic stroke: OR = 1.002, 95% CI: 0.993-1.011, P = .690; coronary artery disease: OR = 1.001, 95% CI: 0.996-1.007, P = .677). Sensitivity analyses and supplementary MR analyses also verify the robustness of the findings. Likewise, there was no correlation between the consumption of green tea and the occurrence of CVDs in East Asians. The consumption of green tea is not associated with a reduced risk of CVDs in populations from Europe and East Asia. This means that those who are trying to reduce their risk of CVDs by drinking more green tea may not benefit from doing so.

Prevalence of trochlear dysplasia in an 1162 retrospective cohort study using CT scans.

HYPOTHESIS/PURPOSE: The prevalence of trochlear dysplasia is common in different populations. BACKGROUND: The prevalence of trochlear dysplasia in the general population, categorised by sex, race, age, and body mass index, has been sparse. This study aimed to define the prevalence of trochlear dysplasia based on the latter categories. STUDY DESIGN: Cohort retrospective study. METHODS: 1162 skeletal mature healthy femora were obtained from a CT-scan-based modelling system (SOMA). Thin slice CT scans were acquired exclusively for medical indications such as polytrauma (20%), CT angiography (70%) and other reasons (i.e. Total Joint Replacement) (10%). Trochlear dysplasia was measured using Pfirmann's method. Patient demographics such as age, race and sex were recorded. RESULTS: The overall prevalence of trochlear dysplasia is 4.5% and is far more common in Asian female patients compared to Caucasian, African and Middle Eastern knees. CONCLUSION: Overall, the prevalence of dysplasia in the general population was determined to be 4.5%, with female patients being more likely to suffer from the condition. Patients of Asian and Caucasian race were more likely to have trochlear dysplasia, while Middle Eastern male patients displayed more dysplastic values than their female counterparts.

Metabolic activity of CYP2C19 and CYP2D6 on antidepressant response from 13 clinical studies using genotype imputation: a meta-analysis.

Cytochrome P450 enzymes including CYP2C19 and CYP2D6 are important for antidepressant metabolism and polymorphisms of these genes have been determined to predict metabolite levels. Nonetheless, more evidence is needed to understand the impact of genetic variations on antidepressant response. In this study, individual clinical and genetic data from 13 studies of European and East Asian ancestry populations were collected. The antidepressant response was clinically assessed as remission and percentage improvement. Imputed genotype was used to translate genetic polymorphisms to metabolic phenotypes (poor, intermediate, normal, and rapid+ultrarapid) of CYP2C19 and CYP2D6. CYP2D6 structural variants cannot be imputed from genotype data, limiting the determination of metabolic phenotypes, and precluding testing for association with response. The association of CYP2C19 metabolic phenotypes with treatment response was examined using normal metabolizers as the reference. Among 5843 depression patients, a higher remission rate was found in CYP2C19 poor metabolizers compared to normal metabolizers at nominal significance but did not survive after multiple testing correction (OR = 1.46, 95% CI [1.03, 2.06], p = 0.033, heterogeneity I2 = 0%, subgroup difference p = 0.72). No metabolic phenotype was associated with percentage improvement from baseline. After stratifying by antidepressants primarily metabolized by CYP2C19, no association was found between metabolic phenotypes and antidepressant response. Metabolic phenotypes showed differences in frequency, but not effect, between European- and East Asian-ancestry studies. In conclusion, metabolic phenotypes imputed from genetic variants using genotype were not associated with antidepressant response. CYP2C19 poor metabolizers could potentially contribute to antidepressant efficacy with more evidence needed. Sequencing and targeted pharmacogenetic testing, alongside information on side effects, antidepressant dosage, depression measures, and diverse ancestry studies, would more fully capture the influence of metabolic phenotypes.