Journal of the ASEAN Federation of Endocrine Societies最新文献

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Clinical Features of Unrecognized Congenital Adrenal Hyperplasia Due to 17α-hydroxylase Deficiency Since Adolescence: A Case Report. 青春期以来17α-羟化酶缺乏所致未被识别的先天性肾上腺增生1例
IF 0.6
Journal of the ASEAN Federation of Endocrine Societies Pub Date : 2023-01-01 Epub Date: 2023-06-21 DOI: 10.15605/jafes.038.02.08
K G Rashmi, Lavanya Ravichandran, Ayan Roy, Dukhabandhu Naik, Sadishkumar Kamalanathan, Jayaprakash Sahoo, Aaron Chapla, Nihal Thomas
{"title":"Clinical Features of Unrecognized Congenital Adrenal Hyperplasia Due to 17α-hydroxylase Deficiency Since Adolescence: A Case Report.","authors":"K G Rashmi, Lavanya Ravichandran, Ayan Roy, Dukhabandhu Naik, Sadishkumar Kamalanathan, Jayaprakash Sahoo, Aaron Chapla, Nihal Thomas","doi":"10.15605/jafes.038.02.08","DOIUrl":"10.15605/jafes.038.02.08","url":null,"abstract":"<p><p>The majority of patients with congenital adrenal hyperplasia (CAH) present with a deficiency of 21-hydroxylase or 11-beta-hydroxylase, which account for 90% and 7% of cases, respectively. However, CAH due to 17α-hydroxylase deficiency (17OHD) is an extremely rare form of CAH (<1% of all CAH cases) that leads to a deficiency of cortisol and sex steroids, along with features of aldosterone excess. This is a case of a 51-year-old single female who was referred to us for the evaluation of new-onset hypertension and hypokalaemia of one-year duration. She was born out of a second-degree consanguineous marriage and reared as a female. She was diagnosed to have testicular feminization syndrome when she presented with a history of primary amenorrhea, absence of secondary sexual characteristics, and bilateral labial swellings at pubertal age. Subsequently, she underwent gonadectomy at the age of 16. Due to the presence of hypertension, metabolic alkalosis and bilaterally enlarged adrenals on CT scan, 46, XY disorders of sexual development (DSD) was considered. A karyotype confirmed the presence of 46, XY chromosomal sex, and genetic analysis revealed a mutation in the <i>CYP17A1</i> gene, thus confirming the diagnosis of 17α-hydroxylase deficiency.</p>","PeriodicalId":41792,"journal":{"name":"Journal of the ASEAN Federation of Endocrine Societies","volume":"38 2","pages":"131-134"},"PeriodicalIF":0.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10692439/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138478857","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Persistent Bilateral Atypical Femoral Fractures in an Antiresorptive-Naïve Singaporean Chinese Patient with Graves' Disease. 一例Antiresorptive-Naïve新加坡华人Graves病患者的持续性双侧非典型股骨骨折。
IF 0.6
Journal of the ASEAN Federation of Endocrine Societies Pub Date : 2023-01-01 Epub Date: 2023-08-30 DOI: 10.15605/jafes.038.02.17
Kuan Swen Choo, Lily Mae Dacay, Le Roy Chong, Linsey Utami Gani
{"title":"Persistent Bilateral Atypical Femoral Fractures in an Antiresorptive-Naïve Singaporean Chinese Patient with Graves' Disease.","authors":"Kuan Swen Choo, Lily Mae Dacay, Le Roy Chong, Linsey Utami Gani","doi":"10.15605/jafes.038.02.17","DOIUrl":"10.15605/jafes.038.02.17","url":null,"abstract":"<p><p>Atypical femoral fractures (AFFs) are rare adverse effects of bisphosphonate therapy. We report an unusual case of bilateral diaphyseal AFFs in an antiresorptive-naïve Singaporean Chinese female with Graves' disease. She presented with complete right AFF requiring surgical fixation, and persistent left incomplete AFF for over four years. Femoral bowing, varus femoral geometry, and ethnic influence likely contributed to the AFFs' formation. This case may provide insights into the pathogenesis of AFFs in high-risk Asian populations.</p>","PeriodicalId":41792,"journal":{"name":"Journal of the ASEAN Federation of Endocrine Societies","volume":"38 2","pages":"135-140"},"PeriodicalIF":0.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10692435/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138478864","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Prevalence of Advanced Liver Fibrosis Among Patients With Type 2 Diabetes Mellitus: A Single-Centre Experience in Penang, Malaysia. 晚期肝纤维化在2型糖尿病患者中的患病率:马来西亚槟城的单中心研究
IF 0.7
Journal of the ASEAN Federation of Endocrine Societies Pub Date : 2023-01-01 DOI: 10.15605/jafes.038.01.08
Xe Hui Lee, Lisa Mohamed Nor, Choon Seong Ang, Toh Peng Yeow, Shueh Lin Lim
{"title":"The Prevalence of Advanced Liver Fibrosis Among Patients With Type 2 Diabetes Mellitus: A Single-Centre Experience in Penang, Malaysia.","authors":"Xe Hui Lee,&nbsp;Lisa Mohamed Nor,&nbsp;Choon Seong Ang,&nbsp;Toh Peng Yeow,&nbsp;Shueh Lin Lim","doi":"10.15605/jafes.038.01.08","DOIUrl":"https://doi.org/10.15605/jafes.038.01.08","url":null,"abstract":"<p><strong>Objectives: </strong>Type 2 diabetes mellitus (T2DM) is an important risk factor for Non-alcoholic fatty liver disease (NAFLD). It worsens the course of NAFLD. We investigated the prevalence of advanced liver fibrosis among patients with T2DM. Our secondary objectives were to describe patient demographics, to explore associated clinical factors, and to compare FIB-4 Index and liver stiffness measurement (LSM).</p><p><strong>Methodology: </strong>This was a cross-sectional study on 258 patients with T2DM duration of at least 10 years. Transient elastography (FibroScan<sup>®</sup>) was performed on all subjects. Advanced liver fibrosis was diagnosed based on LSM results. The FIB-4 index formula was used.</p><p><strong>Results: </strong>The prevalence of advanced liver fibrosis was 22.1%. Associated factors were body mass index (BMI), alanine transaminase (ALT), aspartate transaminase (AST), gamma-glutamyl transferase (GGT), triglyceride (TG) and high-density lipoprotein (HDL) cholesterol. Independent factors were BMI and GGT (<i>p</i>=0.003 and <i>p</i><0.001). FIB-4 index has 30.0% sensitivity, 85.0% specificity, 38.7% positive predictive value, and 79.4% negative predictive value in detecting advanced liver fibrosis by LSM criteria.</p><p><strong>Conclusion: </strong>Our study confirmed the high prevalence of advanced liver fibrosis among patients with long-standing T2DM. This study suggests the benefit of advanced liver fibrosis screening in patients with a minimum of 10 years of T2DM, especially those with high BMI and GGT.</p>","PeriodicalId":41792,"journal":{"name":"Journal of the ASEAN Federation of Endocrine Societies","volume":"38 1","pages":"52-61"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/23/7f/JAFES-38-1-52.PMC10213172.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9596215","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Role of Triglyceride-Glucose Index in the Prediction of the Development of Hypertension - Findings from a Community Cohort in Singapore. 甘油三酯-葡萄糖指数在预测高血压发展中的作用——来自新加坡社区队列的研究结果。
IF 0.7
Journal of the ASEAN Federation of Endocrine Societies Pub Date : 2023-01-01 DOI: 10.15605/jafes.038.01.09
Jonathon Kc Khoo, Serena Low, Bastari Irwan, Justin Is Tang, Chee Fang Sum, Tavintharan Subramaniam, Su Chi Lim
{"title":"The Role of Triglyceride-Glucose Index in the Prediction of the Development of Hypertension - Findings from a Community Cohort in Singapore.","authors":"Jonathon Kc Khoo,&nbsp;Serena Low,&nbsp;Bastari Irwan,&nbsp;Justin Is Tang,&nbsp;Chee Fang Sum,&nbsp;Tavintharan Subramaniam,&nbsp;Su Chi Lim","doi":"10.15605/jafes.038.01.09","DOIUrl":"https://doi.org/10.15605/jafes.038.01.09","url":null,"abstract":"<p><strong>Objectives: </strong>Triglyceride-glucose index (TyGI) is an emerging surrogate marker of insulin resistance. We aim to explore the role of triglyceride-glucose index in the prediction of the development of hypertension.</p><p><strong>Methodology: </strong>We conducted a retrospective cohort study that included 3,183 study participants identified from a community health screening programme who had no baseline hypertension and were then followed up after an average of 1.7 years. Cox proportional-hazard model was used to assess the association between risk of incident hypertension and TyGI in quartiles, while adjusting for demographics and clinical characteristics.</p><p><strong>Results: </strong>Hypertension occurred in 363 study participants (11.4%). Those who developed hypertension had higher TyGI [8.6 (IQR 8.2-9.0)] than those who did not [8.2 (IQR 8.0-8.7)] (<i>p</i><0.001). Significant association between TyGI and hypertension was observed in both the unadjusted and proportional hazard model [Quartile (Q)2, <i>p</i>=0.010; Q3, <i>p</i><0.001 and Q4, <i>p</i><0.001] and the model that adjusted for demographics (Q2, <i>p</i>=0.016; Q3, <i>p</i>=0.003; Q4, <i>p</i><0.001). In the model adjusted for clinical covariates, the hazard of developing hypertension remained higher in TyGI Q4 compared to TyGI Q1(Hazard Ratio=2.57; 95% Confidence Interval: 1.71, 3.87). Increasing triglyceride-glucose index accounted for 16.4% of the association between increasing BMI and incident hypertension, after adjusting for age, gender, ethnicity and baseline HDL cholesterol (<i>p</i><0.001).</p><p><strong>Conclusion: </strong>Triglyceride-glucose index was an independent predictor of the development of hypertension. It may potentially be used as an inexpensive indicator to predict the development of hypertension and risk-stratify individuals to aid management in clinical practice.</p>","PeriodicalId":41792,"journal":{"name":"Journal of the ASEAN Federation of Endocrine Societies","volume":"38 1","pages":"62-67"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b9/54/JAFES-38-1-62.PMC10213169.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9596216","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
The Effect of Glucocorticoids on TAF1 Gene Transcription in X-linked Dystonia Parkinsonism. 糖皮质激素对x连锁肌张力障碍帕金森病TAF1基因转录的影响。
IF 0.7
Journal of the ASEAN Federation of Endocrine Societies Pub Date : 2023-01-01 DOI: 10.15605/jafes.037.S6
Sam Ezrael Dela Cruz, Pia Bagamasbad
{"title":"The Effect of Glucocorticoids on <i>TAF1</i> Gene Transcription in X-linked Dystonia Parkinsonism.","authors":"Sam Ezrael Dela Cruz,&nbsp;Pia Bagamasbad","doi":"10.15605/jafes.037.S6","DOIUrl":"https://doi.org/10.15605/jafes.037.S6","url":null,"abstract":"<p><strong>Objective: </strong>X-linked Dystonia Parkinsonism (XDP) is associated with a SINE-VNTR- Alu (SVA) retrotransposon insertion in an intron of the <i>TAF1</i> gene that alters gene transcription and splicing. In this study, we determined if the SVA insertion introduces glucocorticoid (GC)-responsive <i>cis</i>-regulatory elements that may contribute to dysregulated <i>TAF1</i> transcription and XDP disease progression.</p><p><strong>Methodology: </strong>We performed <i>in silico</i> analysis to identify potential GC receptor (GR) binding sites within the XDP-SVA. We also conducted promoter-reporter assays on HeLa and HEK293T cells to assess the intrinsic promoter activity of three XDP-SVA variants representing different hexameric repeat lengths associated with differences in disease onset. We treated XDP fibroblast cell models with GR agonist (CORT) or antagonist (RU486), then subjected <i>TAF1</i> and the XDP-associated aberrant transcript, <i>TAF1-32i</i> to gene expression analysis.</p><p><strong>Results: </strong>A transcription factor binding site search revealed three binding sites for GR within the XDP-SVA-two within the SINE region and one in the Alu region. Promoter-reporter assays showed induction of XDP-SVA promoter activity upon CORT treatment that was dependent on the cell line and XDP-SVA hexamer repeat length. Gene expression analysis showed that baseline <i>TAF1</i> levels differed between control and patient fibroblast cell lines, and treatment with CORT led to an increasing trend in the expression of the aberrant <i>TAF1-32i</i> transcript but did not reach statistical significance. Treatment with RU486 increased <i>TAF1</i> mRNA expression only in the control cell lines.</p><p><strong>Conclusion: </strong>Using reporter assays, the XDP-SVA was shown to exhibit CORT-dependent transcriptional activation. Gene expression analysis also showed that GC signaling may influence <i>TAF1</i> and <i>TAF1-32i</i> expression, possibly through interaction with the XDP-SVA. Our data provide a potential link between stress and XDP progression.</p>","PeriodicalId":41792,"journal":{"name":"Journal of the ASEAN Federation of Endocrine Societies","volume":"38 1","pages":"23-30"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/00/70/JAFES-38-S1-23.PMC10207867.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9598989","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Molecular Insights to Clinical Perspectives. 分子洞察临床观点。
IF 0.7
Journal of the ASEAN Federation of Endocrine Societies Pub Date : 2023-01-01 DOI: 10.15605/jafes.037.S1
Catherine Lynn T Silao
{"title":"Molecular Insights to Clinical Perspectives.","authors":"Catherine Lynn T Silao","doi":"10.15605/jafes.037.S1","DOIUrl":"https://doi.org/10.15605/jafes.037.S1","url":null,"abstract":"","PeriodicalId":41792,"journal":{"name":"Journal of the ASEAN Federation of Endocrine Societies","volume":"38 1","pages":"3"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/91/3c/JAFES-38-S1-3.PMC10207865.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9902427","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Efficacy and Safety of Myo-inositol Supplementation for the Prevention of Gestational Diabetes Mellitus in Overweight and Obese Pregnant Women: A Systematic Review and Meta-Analysis. 补充肌醇预防超重和肥胖孕妇妊娠期糖尿病的有效性和安全性:一项系统综述和荟萃分析
IF 0.6
Journal of the ASEAN Federation of Endocrine Societies Pub Date : 2023-01-01 Epub Date: 2023-07-15 DOI: 10.15605/jafes.038.02.11
Patricia Ann Factor, Hannah Corpuz
{"title":"The Efficacy and Safety of Myo-inositol Supplementation for the Prevention of Gestational Diabetes Mellitus in Overweight and Obese Pregnant Women: A Systematic Review and Meta-Analysis.","authors":"Patricia Ann Factor, Hannah Corpuz","doi":"10.15605/jafes.038.02.11","DOIUrl":"10.15605/jafes.038.02.11","url":null,"abstract":"<p><strong>Background: </strong>Myo-inositol has emerged as one of the preventive therapies for the development of gestational diabetes mellitus in at-risk populations. This systematic review and meta-analysis was conducted to determine the efficacy and safety of myo-inositol in decreasing the incidence of gestational diabetes in overweight and obese pregnant women.</p><p><strong>Methodology: </strong>This meta-analysis was conducted using the standard Cochrane methodology and reported in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) 2020 guidelines. Inclusion criteria were randomized controlled trials (RCTs) that enrolled overweight and obese pregnant women and used myo-inositol supplementation. The primary outcome was the incidence of gestational diabetes mellitus at 24-28 weeks. Secondary outcomes included cesarean section rate, the incidence of pregnancy-induced hypertension, macrosomia and preterm delivery. Risk ratios (RRs) and 95% confidence intervals (CIs) were used for dichotomous data.</p><p><strong>Results: </strong>Six RCTs were included. Compared to standard micronutrient supplementation, standard dose of myo-inositol (4 g) may reduce the incidence of GDM (RR 0.54; CI [0.30, 0.96]; n = 887 women), but the certainty of evidence is low to very low. With low-dose myo-inositol however, evidence is uncertain about its benefit on the incidence of gestational diabetes mellitus in overweight and obese women with RR 0.71; CI [0.14, 3.50]. No adverse effects were noted. For the secondary outcomes, standard dose myo-inositol appears to reduce the incidence of pregnancy-induced hypertension and preterm delivery, but the certainty of evidence is low to very low.</p><p><strong>Conclusion: </strong>Current evidence is uncertain on the potential benefit of myo-inositol supplementation in overweight and obese pregnant women. While studies show that 4 g myo-inositol per day may decrease the incidence of GDM, pregnancy-induced hypertension and pre-term birth with no associated risk of serious adverse events, the certainty of evidence is low to very low. Future high-quality trials may provide more compelling evidence to support practice recommendations.</p>","PeriodicalId":41792,"journal":{"name":"Journal of the ASEAN Federation of Endocrine Societies","volume":"38 2","pages":"102-112"},"PeriodicalIF":0.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10692440/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138478871","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Survey on Factors Affecting Knowledge and Satisfaction with Care Among Persons with Diabetes Mellitus in an Urban Health Centre and its Outreach Clinics in South India. 对影响印度南部城市保健中心及其外展诊所糖尿病患者的知识和护理满意度的因素的调查
IF 0.6
Journal of the ASEAN Federation of Endocrine Societies Pub Date : 2023-01-01 Epub Date: 2023-07-15 DOI: 10.15605/jafes.038.02.05
Lerisha Lovelina, Pavan Mukherjee, Vijaya Kumar, Sunil Abraham, Sajitha Rahman, Ruby Angeline Pricilla
{"title":"A Survey on Factors Affecting Knowledge and Satisfaction with Care Among Persons with Diabetes Mellitus in an Urban Health Centre and its Outreach Clinics in South India.","authors":"Lerisha Lovelina, Pavan Mukherjee, Vijaya Kumar, Sunil Abraham, Sajitha Rahman, Ruby Angeline Pricilla","doi":"10.15605/jafes.038.02.05","DOIUrl":"10.15605/jafes.038.02.05","url":null,"abstract":"<p><strong>Objective: </strong>To determine the level of knowledge and factors affecting knowledge and satisfaction with diabetes care among persons with diabetes at urban health centre (UHC) and community health worker (CHW)-led outreach clinics (ORC) in South India.</p><p><strong>Methodology: </strong>A cross-sectional study was carried out using a structured questionnaire. One hundred patients at the UHC and 200 patients at the ORC were included.</p><p><strong>Results: </strong>Patients with DM of more than eight years, with co-morbidities and maintained on insulin had good knowledge at the UHC. At the ORC, participants who received education beyond the primary level and belonging to non - Hindu religion had higher knowledge. Patients at the ORC experienced better satisfaction in terms of waiting time for appointments, consultation, registration system and counselling. At the UHC, those who received primary education or those with lower educational attainment had better satisfaction. Overall, knowledge (<i>p</i> = 0.03) and satisfaction (<i>p</i> = 0.00001) of diabetes care was better at the ORC than at the UHC.</p><p><strong>Conclusions: </strong>Our study found better knowledge and satisfaction with diabetes care at the ORC than at the UHC. Whether or not the difference can be attributed to CHW-based clinics in the community needs to be further elucidated.</p>","PeriodicalId":41792,"journal":{"name":"Journal of the ASEAN Federation of Endocrine Societies","volume":"38 2","pages":"41-49"},"PeriodicalIF":0.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10692441/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138478852","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Validation of Genome-Wide Association Studies (GWAS)-Identified Type 2 Diabetes Mellitus Risk Variants in Pakistani Pashtun Population. 全基因组关联研究(GWAS)在巴基斯坦普什图人群中鉴定的2型糖尿病风险变异的验证
IF 0.7
Journal of the ASEAN Federation of Endocrine Societies Pub Date : 2023-01-01 DOI: 10.15605/jafes.037.S5
Asif Jan, Zakiullah, Fazli Khuda, Rani Akbar
{"title":"Validation of Genome-Wide Association Studies (GWAS)-Identified Type 2 Diabetes Mellitus Risk Variants in Pakistani Pashtun Population.","authors":"Asif Jan,&nbsp;Zakiullah,&nbsp;Fazli Khuda,&nbsp;Rani Akbar","doi":"10.15605/jafes.037.S5","DOIUrl":"https://doi.org/10.15605/jafes.037.S5","url":null,"abstract":"<p><strong>Objective: </strong>Recent GWAS largely conducted in European populations have successfully identified multiple genetic risk variants associated with Type 2 Diabetes Mellitus (T2DM). However, the effects conferred by these variants in the Pakistani population have not yet been fully elucidated. The objective of this study was to examine European GWAS-identified T2DM risk variants in the Pakistani Pashtun population to better understand the shared genetic basis of T2DM in the European and Pakistani cohorts.</p><p><strong>Methodology: </strong>A total of 100 T2DM patients and 100 healthy volunteers of Pashtun ethnicity were enrolled in this study. Both groups were genotyped for 8 selected single nucleotide polymorphisms (SNPs) using the Sequenom MassARRAY<sup>®</sup> platform. The association between selected SNPs and T2DM was determined by using appropriate statistical tests.</p><p><strong>Results: </strong>Of the 8 studied SNPs, 5 SNPs, <i>SLC30A8</i>/ rs13266634 (<i>p</i>=0.031, OR=2.13), <i>IGF2BP2</i>/ rs4402960 (<i>p</i>=0.001, OR=3.01), <i>KCNJ11</i>/ rs5219 (<i>p</i>=0.042, OR=1.78), <i>PPARG</i>/ rs1801282 (<i>p</i>=0.042, OR=2.81) and <i>TCF7L2</i>/ rs7903146 (<i>p</i>=0.00006, 3.41) had a significant association with T2DM. SNP <i>GLIS3</i>/ rs7041847 (<i>p</i>=0.051, OR=2.01) showed no sufficient evidence of association. SNPs <i>KCNQ1</i>/ rs2237892 (<i>p</i>=0.140, OR=1.61) and <i>HHEX/IDE</i>/ s1111875 (<i>p</i>=0.112, OR=1.31) showed opposite allelic effects and were not validated for T2DM risk in the study population. Among the studied SNPs, <i>TCF7L2</i>/ rs7903146 showed the most significant association.</p><p><strong>Conclusion: </strong>Our study finding indicates that selected genome-wide significant T2DM risk variants previously identified in European descent also increase the risk of developing T2DM in the Pakistani Pashtun population.</p>","PeriodicalId":41792,"journal":{"name":"Journal of the ASEAN Federation of Endocrine Societies","volume":"38 1","pages":"55-61"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e7/36/JAFES-38-S1-55.PMC10207868.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9777783","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
New-onset Thyroid Eye Disease after COVID-19 Vaccination in a Radioactive Iodine-Treated Graves' Disease Patient: A Case Report and Literature Review. 放射性碘治疗Graves病患者接种COVID-19后新发甲状腺眼病1例报告及文献复习
IF 0.7
Journal of the ASEAN Federation of Endocrine Societies Pub Date : 2023-01-01 DOI: 10.15605/jafes.038.01.19
Jamie Hong Im Teoh, Norlaila Mustafa, Norasyikin Wahab
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