RESUMEN

PURPOSE: Although meningiomas are the most common primary intracranial tumors, their genetic etiologies have not been fully elucidated. To date, only two genome-wide association studies (GWASs) have focused on European ancestries, despite ethnic differences in the incidence of meningiomas. The aim of this study was to conduct the first GWAS of Japanese patients with meningiomas to identify the SNPs associated with meningioma susceptibility. METHODS: In this multicenter prospective case-control study, we studied 401 Japanese patients with meningioma admitted in five institutions in Japan, and 50,876 control participants of Japanese ancestry enrolled in Biobank Japan. RESULTS: The quality control process yielded 536,319 variants and imputation resulted in 8,224,735 variants on the autosomes and 224,820 variants on the X chromosomes. This GWAS eventually revealed no genetic variants with genome-wide significance (P < 5 × 10 - 8) and observed no significant association in the previously reported risk variants rs11012732 and rs2686876 due to low minor allele frequency in the Japanese population. CONCLUSION: This is the first GWAS of meningiomas in East Asian populations and is expected to contribute to the development of GWAS research for meningiomas.

Asunto(s)

RESUMEN

Background: The Serious Illness Conversation Guide (SICG) was developed by Ariadne Labs in the United States. However, there is a scarcity of literature on the cross-cultural adaptations of the SICG in Asian settings. Objectives: We aimed to adapt the SICG for English-speaking patients with serious illnesses in Singapore. Methods: We purposively recruited 28 patients with advanced stages of heart failure, renal failure, or cancer from a tertiary hospital. A designated research team member conducted semistructured interviews to obtain participants' feedback on the SICG. The interviews were transcribed by the designated study team member. Participants' response to each item on the SICG was coded quantitatively into categories to denote participant acceptance, partial acceptance, or nonacceptance. Transcripts were further analyzed using content analysis to understand participants' rationale regarding feedback of the specific SICG item. Modifications to the SICG were iteratively made over time to obtain its current version. Results: Participants indicated a preference for direct language with shorter sentences and inclusive pronouns. It was considered important that clinicians keep the conversation hopeful, individualize the conversation content according to the patient's journey, and use prompts where necessary to support the patient's elaboration. Conclusion: This study outlined a patient-centric approach to localizing the SICG in the English language to a new cultural context, marking the first such effort in an Asian setting. Further study is under way to evaluate the SICG in more disease populations and non-English languages used in Singapore.

RESUMEN

BACKGROUND: The association of single nucleotide polymorphism of KCNQ1 gene rs2237895 with type 2 diabetes mellitus (T2DM) is currently controversial. It is unknown whether this association can be gene realized across different populations. AIM: To determine the association of KCNQ1 rs2237895 with T2DM and provide reliable evidence for genetic susceptibility to T2DM. METHODS: We searched PubMed, Embase, Web of Science, Cochrane Library, Medline, Baidu Academic, China National Knowledge Infrastructure, China Biomedical Liter-ature Database, and Wanfang to investigate the association between KCNQ1 gene rs2237895 and the risk of T2DM up to January 12, 2022. Review Manager 5.4 was used to analyze the association of the KCNQ1 gene rs2237895 polymorphism with T2DM and to evaluate the publication bias of the selected literature. RESULTS: Twelve case-control studies (including 11273 cases and 11654 controls) met our inclusion criteria. In the full population, allelic model [odds ratio (OR): 1.19; 95% confidence interval (95%CI): 1.09-1.29; P < 0.0001], recessive model (OR: 1.20; 95%CI: 1.11-1.29; P < 0.0001), dominant model (OR: 1.27. 95%CI: 1.14-1.42; P < 0.0001), and codominant model (OR: 1.36; 95%CI: 1.15-1.60; P = 0.0003) (OR: 1.22; 95%CI: 1.10-1.36; P = 0.0002) indicated that the KCNQ1 gene rs2237895 polymorphism was significantly correlated with susceptibility to T2DM. In stratified analysis, this association was confirmed in Asian populations: allelic model (OR: 1.25; 95%CI: 1.13-1.37; P < 0.0001), recessive model (OR: 1.29; 95%CI: 1.11-1.49; P = 0.0007), dominant model (OR: 1.35; 95%CI: 1.20-1.52; P < 0.0001), codominant model (OR: 1.49; 95%CI: 1.22-1.81; P < 0.0001) (OR: 1.26; 95%CI: 1.16-1.36; P < 0.0001). In non-Asian populations, this association was not significant: Allelic model (OR: 1.06, 95%CI: 0.98-1.14; P = 0.12), recessive model (OR: 1.04; 95%CI: 0.75-1.42; P = 0.83), dominant model (OR: 1.06; 95%CI: 0.98-1.15; P = 0.15), codominant model (OR: 1.08; 95%CI: 0.82-1.42; P = 0.60. OR: 1.15; 95%CI: 0.95-1.39; P = 0.14). CONCLUSION: KCNQ1 gene rs2237895 was significantly associated with susceptibility to T2DM in an Asian population. Carriers of the C allele had a higher risk of T2DM. This association was not significant in non-Asian populations.

Asunto(s)

RESUMEN

Rainforest hunter-gatherers from Southeast Asia are characterized by specific morphological features including a particularly dark skin color (D), short stature (S), woolly hair (W), and the presence of steatopygia (S)-fat accumulation localized in the hips (DSWS phenotype). Based on previous evidence in the Andamanese population, we first characterized signatures of adaptive natural selection around the calcium-sensing receptor gene in Southeast Asian rainforest groups presenting the DSWS phenotype and identified the R990G substitution (rs1042636) as a putative adaptive variant for experimental follow-up. Although the calcium-sensing receptor has a critical role in calcium homeostasis by directly regulating the parathyroid hormone secretion, it is expressed in different tissues and has been described to be involved in many biological functions. Previous works have also characterized the R990G substitution as an activating polymorphism of the calcium-sensing receptor associated with hypocalcemia. Therefore, we generated a knock-in mouse for this substitution and investigated organismal phenotypes that could have become adaptive in rainforest hunter-gatherers from Southeast Asia. Interestingly, we found that mouse homozygous for the derived allele show not only lower serum calcium concentration but also greater body weight and fat accumulation, probably because of enhanced preadipocyte differentiation and lipolysis impairment resulting from the calcium-sensing receptor activation mediated by R990G. We speculate that such differential features in humans could have facilitated the survival of hunter-gatherer groups during periods of nutritional stress in the challenging conditions of the Southeast Asian tropical rainforests.

Asunto(s)

RESUMEN

Parkinson's Disease (PD) has witnessed an alarming rise in prevalence, highlighting the suboptimal nature of early diagnostic and therapeutic strategies. To address this issue, genetic testing has emerged as a potential avenue. In this comprehensive review, we have meticulously summarized the variants associated with PD in Asian populations. Our review reveals that these variants exert their influence on diverse biological pathways, encompassing the autophagy-lysosome pathway, cholesterol metabolism, circadian rhythm regulation, immune system response, and synaptic function. Conventionally, PD has been linked to other diseases; however, our findings shed light on a shared genetic susceptibility among these conditions, implying an underlying pathophysiological mechanism that unifies them. Moreover, it is noteworthy that these PD-associated variants can significantly impact drug responses during therapeutic interventions. This review not only provides a consolidated overview of the genetic variants associated with PD in Asian populations but also contributes novel insights into the intricate relationships between PD and other diseases by elucidating shared genetic components. These findings underscore the importance of personalized approaches in diagnosing and treating PD based on individual genetic profiles to optimize patient outcomes.

Asunto(s)

RESUMEN

BACKGROUND: Studies of the influence of smaller body type on the severity of prosthesis-patient mismatch (PPM) after small-sized surgical aortic valve replacement (SAVR) are few, but the issue is particularly relevant for Asian patients.Methods and Results: 695 patients who underwent SAVR with bioprosthetic valves had their hemodynamic valve performance analyzed at 3 months, 1 year, 3 years, and 5 years after operation, and clinical outcomes were assessed. The patients were stratified into 3 valve size groups: 19/21, 23, and 25/27 mm. A smaller valve was associated with higher mean pressure gradients at the 4 time points after operation (P trend <0.05). However, the 3 valve size groups demonstrated no significant differences in the risk of clinical events. At none of the time points did patients with projected PPM show increased mean pressure gradients (P>0.05), whereas patients with measured PPM did (P<0.05). Compared with patients with projected PPM, those with measured PPM demonstrated higher rates of infective endocarditis readmission (adjusted hazard ratio [aHR] 3.31, 95% confidence interval [CI] 1.06-10.39) and a higher risk of composite outcomes (aHR 1.45, 95% CI 0.95-2.22, P=0.087). CONCLUSIONS: Relative to those receiving larger valves, patients receiving small bioprosthetic valves had poorer hemodynamic performance but did not demonstrate differences in clinical events in long-term follow-up.

Asunto(s)

RESUMEN

BACKGROUND AND AIM: Whether alcohol intake is associated with Helicobacter pylori (H. pylori) eradication failure remains controversial, and this meta-analysis was aimed at investigating the effect of alcohol on the risk of H. pylori eradication failure. METHODS: Relevant studies were systematically screened for and retrieved from PubMed and Web of Science (updated to January 2022), and relevant references were manually reviewed. The odds ratios (ORs) and 95% confidence intervals (CIs) were calculated. Subgroup, publication bias, and sensitivity analyses were also conducted. RESULTS: A total of 40 studies were included in the meta-analysis. No significant association was found between alcohol consumption and the risk of H. pylori eradication failure (OR = 1.09, 95% CI, 0.94-1.26). However, in subgroup analyses stratified by region, a positive association was found in Asian patients (OR = 1.23, 95% CI, 1.03-1.47). In Asian patients, alcohol consumption was associated with the risk of H. pylori eradication failure when the duration of therapy was > 7 days (OR = 1.17, 95% CI, 1.10-1.25), when the treatment regimen included nitroimidazoles (OR = 1.16, 95% CI, 1.09-1.24), and when patients were treated with bismuth-containing quadruple therapy (OR = 1.17, 95% CI, 1.10-1.25). Alcohol intake > 40 g/day was associated with H. pylori eradication failure (OR = 3.17, 95% CI, 1.56-6.41). Moreover, in Asian patients who were administered a vonoprazan (VPZ)-based therapy regimen, alcohol consumption had no effect on H. pylori eradication rates (OR = 1.73, 95% CI, 0.98-3.05). CONCLUSION: Our meta-analysis clearly showed that a higher daily alcohol intake was associated with a higher risk of H. pylori eradication failure in Asian populations. Moreover, a VPZ-based treatment regimen can prevent this effect.

Asunto(s)

RESUMEN

BACKGROUND: Animal and small-cohort human studies have shown that tea consumption affects the gut microbiome, but evidence from large cohort studies is lacking. OBJECTIVES: We examined associations between tea consumption and gut microbiome composition among older Chinese adults. METHODS: The study included 1179 men and 1078 women from the Shanghai Men's and Women's Health Studies, who reported tea drinking status, type, amount, and duration at baseline and follow-up surveys (1996-2017) and were free of cancer, cardiovascular disease, and diabetes at stool collection (2015-2018). Fecal microbiome was profiled using 16S rRNA sequencing. Associations of tea variables with microbiome diversity and taxa abundance were evaluated using linear or negative binomial hurdle models after adjusting for sociodemographics, lifestyle, and hypertension status. RESULTS: Mean age at stool collection was 67.2 ± 9.0 y in men and 69.6 ± 8.5 y in women. Tea drinking was not associated with microbiome ɑ-diversity in men or women; however, all tea variables were associated with ß-diversity in men (P < 0.001). Significant associations with taxa abundance were also observed mostly in men. Current tea drinking, mainly green tea drinking, was associated with increase in orders Synergistales and RF39 in men (ß = 0.30 to 0.42, all PFDR ≤ 0.10) but not in women (PInteraction-sex = 0.01). Also, increase in families Coriobacteriaceae, Odoribacteraceae, genera Collinsella, Odoribacter, and species Collinsella aerofaciens, Coprococcus catus, and Dorea formicigenerans were observed among men who drank >3.3 cups (781 mL)/d compared to that of nondrinkers (all PFDR <0.10). The increased Coprococcus catus related to tea drinking was more evident among men without hypertension and inversely associated with the prevalence of hypertension (OR: 0.90; 95% CI: 0.84, 0.97; PFDR = 0.03). CONCLUSIONS: Tea consumption may affect gut microbiome ß-diversity and abundance of some bacteria, which may contribute to reduced hypertension risk in Chinese men. Future studies should examine the sex-specific tea-gut microbiome associations and how certain bacteria may mediate the health benefits of tea.

Asunto(s)

RESUMEN

In recent years, a novel multiplex system containing two mini-short tandem repeats, 59 autosomal InDels, two Y-chromosomal InDels, and the Amelogenin gene with all amplicons less than 200 bp has been constructed and validated by ourselves for forensic degration sample, and its forensic application efficiency has been studied in Chinese some populations. Herein, the population genetic polymorphisms of these loci were investigated in Chinese Hui (n = 249) and Mongolian (n = 222) ethnic groups using direct multiplex amplification and capillary electrophoresis platform. The forensic identification efficiencies of this self-developed system were further evaluated in these two groups. And the results showed that the values of the combined power of discrimination were 0.9999999999999999999999999999006 (Hui) and 0.999999999999999999999999999738 (Mongolian), respectively. Moreover, the combined power of exclusion values were 0.99999817 (Hui) and 0.99999779 (Mongolian). The 59 autosomal InDels used in this study exhibited high forensic identification efficiencies in 10 East Asian populations, which was also expected to be a new powerful tool for identifying degraded biological materials in East Asian populations.

Asunto(s)

RESUMEN

BACKGROUND: The MBOAT7 rs641738 single-nucleotide polymorphism (SNP) has been proven to influence various liver diseases, but its association with hepatocellular carcinoma (HCC) susceptibility has been debated. To address this discrepancy, we conducted the current systematic review and meta-analysis. AIM: To perform a systematic review and meta-analysis on association of MBOAT7 SNP and HCC susceptibility. METHODS: We performed a systematic review in PubMed, Web of Science, Scopus, and EMBASE; applied specific inclusion and exclusion criteria; and extracted the data. Meta-analysis was conducted with the meta package in R. Sensitivity and subgroup analyses were also performed. This meta-analysis was registered in PROSPERO (CRD42023458046). RESULTS: Eight studies were included in the systematic review, and 12 cohorts from 6 studies were included in the meta-analysis. Our meta-analysis revealed an association between the MBOAT7 SNP and HCC susceptibility in both the dominant [odds ratio (OR): 1.14, 95% confidence interval (95%CI): 1.02-1.26, P = 0.020] and recessive (OR: 1.21, 95%CI: 1.05-1.39, P = 0.008) models. Subgroup analysis revealed that stratification of the included patients by geographical origin showed a significant association in Asia (OR: 1.20, 95%CI: 1.03-1.39). CONCLUSION: This meta-analysis underscores the contribution of the MBOAT7 rs641738 SNP to hepatocarcinogenesis, especially in Asian populations, which warrants further investigation.

RESUMEN

Aims: To investigate the potential association between type 2 diabetes (T2D) and hepatocellular carcinoma (HCC) in East Asian populations using Mendelian randomization (MR) analyses. Methods: Bidirectional Mendelian randomization (MR) studies were conducted using summary statistics from genome-wide association studies (GWAS) related to T2D and HCC. The potential effects of confounders such as chronic hepatitis B, chronic hepatitis C, body mass index, and alcohol intake frequency were corrected using a multivariate MR study. Various MR methods, including the inverse variance weighted (IVW) approach, were used to estimate the associations between T2D and HCC. Sensitivity analysis and assessment of heterogeneity were performed to ensure the robustness of the results. Results: In the forward MR study, the IVW approach of MR analysis suggested an inverse association between T2D and HCC, with a risk odds ratio of 0.8628 (95% confidence interval [CI], 0.7888-0.9438). Furthermore, even after adjusting for BMI, chronic hepatitis B, and alcohol intake frequency, this study still supports the inverse association between T2D and HCC. Additional MR methods provided further support for this relationship. Sensitivity analysis and assessment of heterogeneity confirmed the robustness of the results. The reverse MR analysis did not show a clear impact of genetic liability to HCC on reduced risk of T2D(OR=0.9788; 95% CI, 0.9061-1.0574). Conclusion: This study provides evidence of an inverse association between T2D and HCC in East Asian populations using MR analysis. Further studies are warranted to validate these findings.

Asunto(s)

RESUMEN

Tumor mutation burden (TMB) has been validated as a biomarker to predict the response of immune checkpoint inhibitors (ICIs) treatment in various cancers. However, the effects of different sequencing platforms, cancer types, and calculation algorithms on TMB as well as its cut-off value for predicting immunotherapy efficacy in the East Asian population still need to be further investigated. In this study, the data of 4126 samples generated by targeted panel sequencing or whole-exome sequencing (WES) in different platforms and public sequencing data from 3680 samples that contained targeted panel sequencing, WES and whole-genome sequencing (WGS) were obtained. The impact of different sequencing platforms and methods on TMB calculation was assessed. No significant bias was found in TMB calculated by different platforms. However, TMB calculated from WGS was significantly lower than those calculated from targeted panel sequencing and WES. The distribution of TMB at different sequencing depths and tumor purity were analyzed. There was no significant difference in the distribution of TMB when the sequencing depth was greater than 500, the tumor purity estimated by hematoxylin-eosin (HE) staining was between 0.1-1.0 or estimated by next-generation sequencing (NGS) was greater than 0.4. In addition, the somatic-germline-zygosity (SGZ) algorithm was optimized to calculate TMB from tumor-only sequencing samples in the East Asian population. The correlation coefficient of TMB calculated with the optimized SGZ algorithm and paired normal-tumor sequencing is 0.951. Furthermore, the optimal cut-off value of TMB in East Asian lung cancer patients treated with ICIs was determined to be 7 mut/Mb instead of 10 mut/Mb through the ROC curve and Log-rank analysis in the training cohort and validated in the test cohort. Patients with TMB ≥ 7 mut/Mb had better outcomes than patients with TMB<7 mut/Mb. In conclusion, this study systematically analyzed the factors that influenced the TMB calculation and optimized the SGZ algorithm to calculate TMB from tumor-only sequencing samples in the East Asian population. More importantly, the cut-off value of TMB for predicting immunotherapy efficacy was determined to be 7 mut/Mb instead of 10 mut/Mb in East Asian lung cancer patients, which can help in clinical decision-making.

RESUMEN

BACKGROUND: The increasing prevalence of gestational diabetes mellitus (GDM) is concerning as women with GDM are at high risk of type 2 diabetes (T2D) later in life. The magnitude of this risk highlights the importance of early intervention to prevent the progression of GDM to T2D. Rates of postpartum screening are suboptimal, often as low as 13% in Asian countries. The lack of preventive care through structured postpartum screening in several health care systems and low public awareness are key barriers to postpartum diabetes screening. OBJECTIVE: In this study, we developed a machine learning model for early prediction of postpartum T2D following routine antenatal GDM screening. The early prediction of postpartum T2D during prenatal care would enable the implementation of effective strategies for diabetes prevention interventions. To our best knowledge, this is the first study that uses machine learning for postpartum T2D risk assessment in antenatal populations of Asian origin. METHODS: Prospective multiethnic data (Chinese, Malay, and Indian ethnicities) from 561 pregnancies in Singapore's most deeply phenotyped mother-offspring cohort study-Growing Up in Singapore Towards healthy Outcomes-were used for predictive modeling. The feature variables included were demographics, medical or obstetric history, physical measures, lifestyle information, and GDM diagnosis. Shapley values were combined with CatBoost tree ensembles to perform feature selection. Our game theoretical approach for predictive analytics enables population subtyping and pattern discovery for data-driven precision care. The predictive models were trained using 4 machine learning algorithms: logistic regression, support vector machine, CatBoost gradient boosting, and artificial neural network. We used 5-fold stratified cross-validation to preserve the same proportion of T2D cases in each fold. Grid search pipelines were built to evaluate the best performing hyperparameters. RESULTS: A high performance prediction model for postpartum T2D comprising of 2 midgestation features-midpregnancy BMI after gestational weight gain and diagnosis of GDM-was developed (BMI_GDM CatBoost model: AUC=0.86, 95% CI 0.72-0.99). Prepregnancy BMI alone was inadequate in predicting postpartum T2D risk (ppBMI CatBoost model: AUC=0.62, 95% CI 0.39-0.86). A 2-hour postprandial glucose test (BMI_2hour CatBoost model: AUC=0.86, 95% CI 0.76-0.96) showed a stronger postpartum T2D risk prediction effect compared to fasting glucose test (BMI_Fasting CatBoost model: AUC=0.76, 95% CI 0.61-0.91). The BMI_GDM model was also robust when using a modified 2-point International Association of the Diabetes and Pregnancy Study Groups (IADPSG) 2018 criteria for GDM diagnosis (BMI_GDM2 CatBoost model: AUC=0.84, 95% CI 0.72-0.97). Total gestational weight gain was inversely associated with postpartum T2D outcome, independent of prepregnancy BMI and diagnosis of GDM (P=.02; OR 0.88, 95% CI 0.79-0.98). CONCLUSIONS: Midgestation weight gain effects, combined with the metabolic derangements underlying GDM during pregnancy, signal future T2D risk in Singaporean women. Further studies will be required to examine the influence of metabolic adaptations in pregnancy on postpartum maternal metabolic health outcomes. The state-of-the-art machine learning model can be leveraged as a rapid risk stratification tool during prenatal care. TRIAL REGISTRATION: ClinicalTrials.gov NCT01174875; https://clinicaltrials.gov/ct2/show/NCT01174875.

RESUMEN

The increasing prevalence of gestational diabetes mellitus (GDM) is contributing to the rising global burden of type 2 diabetes (T2D) and intergenerational cycle of chronic metabolic disorders. Primary lifestyle interventions to manage GDM, including second trimester dietary and exercise guidance, have met with limited success due to late implementation, poor adherence and generic guidelines. In this study, we aimed to build a preconception-based GDM predictor to enable early intervention. We also assessed the associations of top predictors with GDM and adverse birth outcomes. Our evolutionary algorithm-based automated machine learning (AutoML) model was implemented with data from 222 Asian multi-ethnic women in a preconception cohort study, Singapore Preconception Study of Long-Term Maternal and Child Outcomes (S-PRESTO). A stacked ensemble model with a gradient boosting classifier and linear support vector machine classifier (stochastic gradient descent training) was derived using genetic programming, achieving an excellent AUC of 0.93 based on four features (glycated hemoglobin A1c (HbA1c), mean arterial blood pressure, fasting insulin, triglycerides/HDL ratio). The results of multivariate logistic regression model showed that each 1 mmol/mol increase in preconception HbA1c was positively associated with increased risks of GDM (p = 0.001, odds ratio (95% CI) 1.34 (1.13-1.60)) and preterm birth (p = 0.011, odds ratio 1.63 (1.12-2.38)). Optimal control of preconception HbA1c may aid in preventing GDM and reducing the incidence of preterm birth. Our trained predictor has been deployed as a web application that can be easily employed in GDM intervention programs, prior to conception.

Asunto(s)

RESUMEN

BACKGROUND: The COVID-19 pandemic heightened anti-Asian racism towards East Asian diasporas in North America. Experiences of racism encountered by East Asian communities have been documented to negatively impact their mental health. METHODS: A scoping review was undertaken following Arksey and O'Malley's (2005) methodology to (a) map the foci of literature on racism and the mental health of East Asian diasporas in North America and (b) identify gaps in the current literature. RESULTS: A total of 1309 articles were identified in May 2021. Based on the inclusion criteria, 35 records were included. Two distinct mental health foci were found: mental health outcomes and mental healthcare access and utilization. The majority (n = 22) of the articles focused on racism at the interpersonal level. Six articles provided anti-racism solutions at the individual level, such as overcoming biases. Five articles targeted anti-racism solutions from both the individual and institutional levels, while 1 article addressed barriers at the institutional level, such as dismantling sanctioned power hierarchies. CONCLUSION: The expanding knowledge base on COVID-19-related racial discrimination is reminiscent of previous literature examining the history of anti-Asian racism in North America. Greater attention is needed to navigate impactful anti-racism solutions for East Asian populations' mental health in North America.

RESUMEN

BACKGROUND: There is limited evidence on the epidemiology and time trend analysis of incidence rates of gynecological cancer in Asia as a whole. We conducted this study to demonstrate breast and gynecological cancers incidence and trends in selected Asian populations. METHODS: We conducted this ecological study using cancer and population data from cancer incidence in five continents (CI5). We extracted the data of breast, uterine, cervix and ovary cancers in selected Asian populations from 1998 to 2012 from CI5plus. We used Joinpoint regression model (version 4.8.0.1) to evaluate the annual percentage change (APC), which characterizes trends in cancer rates over time, and the average annual percent changes (AAPCs), which describes the average APCs over a period of multiple years. Results were considered statistically significant at P < 0.05. RESULTS: Between breast and gynecological cancers, breast cancer has the highest incidence rates among women in Asia. The time trend of the incidence rates showed a constant growth in breast, ovary and corpus uteri cancers. This rising trend was obviously sharper for uterine cancer (AAPC 95% CI = 3.4 [3.0, 3.7]) followed by breast [AAPC 95% CI = 2.1 (2.0, 2.2)] and ovarian cancers (AAPC 95% CI = 0.5 [-0.4, 1.3]). The age-adjusted incidence rate (ASR) of cervical cancer displayed a declining trend from 1998 to 2012 (AAPC 95% CI = -1.4 [-2.4, -0.5]). CONCLUSION: Incidence rates of breast and gynecological cancers have a rising trend in Asian countries. However, breast and gynecological cancers have different patterns of time trend.

Asunto(s)

RESUMEN

Population stratification analyses targeting genetically closely related East Asians have revealed that distinguishable differentiation exists between Han Chinese, Korean, and Japanese individuals, as well as between southern (S-) and northern (N-) Han Chinese. Previous studies offer a number of choices for ancestry informative single nucleotide polymorphisms (AISNPs) to discriminate East-Asian populations. In this study, we collected and examined the efficiency of 1185 AISNPs using frequency and genotype data from various publicly available databases. With the aim to perform fine-scale classification of S-Han, N-Han, Korean, and Japanese subjects, machine-learning methods (Softmax and Random Forest) were used to screen a panel of highly informative AISNPs and to develop a superior classification model. Stepwise classification was implemented to increase and balance the discrimination in the process of AISNP selection, first discriminating Han, Korean, and Japanese individuals, and then characterizing stratification between S-Han and N-Han. The final 272-AISNP panel is an alternative optimization of various previous works, which promises reliable and >90% accuracy in classification of the four East-Asian groups. This AISNP panel and the machine-learning model could be a useful and superior choice in medical genome-wide association studies and in forensic investigations for unknown suspect identity.

Asunto(s)

RESUMEN

AIMS: The heterogeneity in Gestational Diabetes Mellitus (GDM) risk factors among different populations impose challenges in developing a generic prediction model. This study evaluates the predictive ability of existing UK NICE guidelines for assessing GDM risk in Singaporean women, and used machine learning to develop a non-invasive predictive model. METHODS: Data from 909 pregnancies in Singapore's most deeply phenotyped mother-offspring cohort study, Growing Up in Singapore Towards healthy Outcomes (GUSTO), was used for predictive modeling. We used a CatBoost gradient boosting algorithm, and the Shapley feature attribution framework for model building and interpretation of GDM risk attributes. RESULTS: UK NICE guidelines showed poor predictability in Singaporean women [AUC:0.60 (95% CI 0.51, 0.70)]. The non-invasive predictive model comprising of 4 non-invasive factors: mean arterial blood pressure in first trimester, age, ethnicity and previous history of GDM, greatly outperformed [AUC:0.82 (95% CI 0.71, 0.93)] the UK NICE guidelines. CONCLUSIONS: The UK NICE guidelines may be insufficient to assess GDM risk in Asian women. Our non-invasive predictive model outperforms the current state-of-the-art machine learning models to predict GDM, is easily accessible and can be an effective approach to minimize the economic burden of universal testing & GDM associated healthcare in Asian populations.

Asunto(s)