keyword
https://read.qxmd.com/read/38533754/the-rs2018736-fibulin-5-polymorphism-as-a-determinant-for-pelvic-organ-prolapse-a-case-control-study
#1
JOURNAL ARTICLE
Juliana B Teixeira, Maria A T Bortolini, Rebecca S P Silva, Nilce C Batista, Carolina L Costa E Silva, Kristina Allen-Brady, Rodrigo A Castro
OBJECTIVE: Fibulin-5 is a connective tissue component and may play a role in pelvic organ prolapse (POP) pathogenesis. This study aimed to verify the association of the rs2018736 polymorphism of the fibulin-5 gene with POP in postmenopausal Brazilian women, and to determine the risk factors for POP. METHOD: This observational, cross-sectional, case-control study assessed postmenopausal women with advanced POP (stages III and IV) and control women (stages 0 and I) by examination and peripheral blood sample collection...
March 27, 2024: Climacteric: the Journal of the International Menopause Society
https://read.qxmd.com/read/38533286/association-of-protein-tyrosine-phosphatase-receptor-type-d-and-serine-racemase-genetic-variants-with-type-2-diabetes-in-malaysian-indians
#2
JOURNAL ARTICLE
Riyadh Saif-Ali, Zaid Al-Hamodi, Sameer D Salem, Molham Al-Habori, Sami A Al-Dubai, Ikram S Ismail
INTRODUCTION: Type 2 diabetes (T2D) candidate genes, protein tyrosine phosphatase receptor type D (PTPRD), and serine racemase (SRR) were suggested by a genome-wide association study (GWAS) in the Chinese population. Association studies have been replicated among East Asian populations. The association of PTPRD and SRR genetic variants with T2D in Southeast Asian populations still needs to be studied. This study aimed to investigate the association of PTPRD and SSR genetic variants with T2D in Malaysian Indian subjects...
2024: Indian Journal of Endocrinology and Metabolism
https://read.qxmd.com/read/38527901/uncovering-genetic-associations-in-the-human-diseasome-using-an-endophenotype-augmented-disease-network
#3
JOURNAL ARTICLE
Jakob Woerner, Vivek Sriram, Yonghyun Nam, Anurag Verma, Dokyoon Kim
MOTIVATION: Many diseases, particularly cardiometabolic disorders, exhibit complex multimorbidities with one another. An intuitive way to model the connections between phenotypes is with a disease-disease network (DDN), where nodes represent diseases and edges represent associations, such as shared single-nucleotide polymorphisms (SNPs), between pairs of diseases. To gain further genetic understanding of molecular contributors to disease associations, we propose a novel version of the shared-SNP DDN (ssDDN), denoted as ssDDN+, which includes connections between diseases derived from genetic correlations with intermediate endophenotypes...
March 4, 2024: Bioinformatics
https://read.qxmd.com/read/38527673/genetic-association-of-novel-snps-in-hk-1-rs201626997-and-hk-3-rs143604141-with-type-2-diabetes-mellitus-in-bangladeshi-population
#4
JOURNAL ARTICLE
Md Tarikul Islam, Md Abdullah Al Mamun Khan, Shahidur Rahman, K M Kaderi Kibria
BACKGROUND: Hexokinase, a key enzyme in glycolysis, has isoforms like HK-1, HK-2, HK-3, and Glucokinase. Unpublished exome sequencing data showed that two novel polymorphisms in HK-1 rs201626997 (G/T) and HK-3 rs143604141 (G/A) exist in the Bangladeshi population. We investigated the possible relationship of these SNPs with T2DM. MATERIALS AND METHODS: Peripheral blood samples from the study participants were used to isolate their genomic DNA. An allele-specific PCR was standardized that can discriminate between the wild-type and mutant-type alleles of HK-1 (rs201626997) and HK-3 (rs143604141) polymorphisms...
March 23, 2024: Gene
https://read.qxmd.com/read/38527428/menarche-a-journey-into-womanhood-age-at-menarche-and-health-related-outcomes-in-east-asians
#5
JOURNAL ARTICLE
Jian-Shiun Chiou, Ying-Ju Lin, Cherry Yin-Yi Chang, Wen-Miin Liang, Ting-Yuan Liu, Jai-Sing Yang, Chen-Hsing Chou, Hsing-Fang Lu, Mu-Lin Chiu, Ting-Hsu Lin, Chiu-Chu Liao, Shao-Mei Huang, I-Ching Chou, Te-Mao Li, Peng-Yan Huang, Tzu-Shun Chien, Hou-Ren Chen, Fuu-Jen Tsai
STUDY QUESTION: Are there associations of age at menarche (AAM) with health-related outcomes in East Asians? SUMMARY ANSWER: AAM is associated with osteoporosis, Type 2 diabetes (T2D), glaucoma, and uterine fibroids, as demonstrated through observational studies, polygenic risk scores, genetic correlations, and Mendelian randomization (MR), with additional findings indicating a causal effect of BMI and T2D on earlier AAM. WHAT IS KNOWN ALREADY: Puberty timing is linked to adult disease risk, but research predominantly focuses on European populations, with limited studies in other groups...
March 25, 2024: Human Reproduction
https://read.qxmd.com/read/38523292/sglt2-inhibition-and-three-urological-cancers-up-to-date-results
#6
JOURNAL ARTICLE
Lede Lin, Kang Ning, Liyuan Xiang, Liao Peng, Xiang Li
OBJECTIVE: To identify the causal role of sodium-glucose cotransporter 2 (SGLT2) inhibition on three urological cancers. METHODS: Six single nucleotide polymorphisms associated with the expression level of SLC5A2, a proxy for SGLT2 inhibition, from a recent publication were extracted. Three common urological cancers, including bladder cancer, prostate cancer and kidney cancer, were analysed. The main cohort of bladder cancer was derived from UK Biobank (1279 cases and 372,016 controls)...
March 2024: Diabetes/metabolism Research and Reviews
https://read.qxmd.com/read/38512812/effects-of-ninjurin-2-polymorphisms-on-susceptibility-to-coronary-heart-disease
#7
JOURNAL ARTICLE
Yuping Yan, Xiaoyan Du, Xia Dou, Jingjie Li, Wenjie Zhang, Shuangyu Yang, Wenting Meng, Gang Tian
OBJECTIVE: The aim of this study was to explore the effects of Ninjurin 2 (NINJ2) polymorphisms on susceptibility to coronary heart disease (CHD). METHODS: We conducted a case-control study with 499 CHD cases and 505 age and gender-matched controls. Five single nucleotide polymorphisms (SNPs) in NINJ2 (rs118050317, rs75750647, rs7307242, rs10849390, and rs11610368) were genotyped by the Agena MassARRAY platform. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using logistic regression analysis to assess the association of NINJ2 polymorphisms and CHD risk-adjusted for age and gender...
March 1, 2024: Cell Cycle
https://read.qxmd.com/read/38507016/genetic-evidence-for-t-wave-area-from-12-lead-electrocardiograms-to-monitor-cardiovascular-diseases-in-patients-taking-diabetes-medications
#8
JOURNAL ARTICLE
Mengling Qi, Haoyang Zhang, Xuehao Xiu, Dan He, David N Cooper, Yuanhao Yang, Huiying Zhao
Aims Many studies indicated use of diabetes medications can influence the electrocardiogram (ECG), which remains the simplest and fastest tool for assessing cardiac functions. However, few studies have explored the role of genetic factors in determining the relationship between the use of diabetes medications and ECG trace characteristics (ETC). Methods Genome-wide association studies (GWAS) were performed for 168 ETCs extracted from the 12-lead ECGs of 42,340 Europeans in the UK Biobank. The genetic correlations, causal relationships, and phenotypic relationships of these ETCs with medication usage, as well as the risk of cardiovascular diseases (CVDs), were estimated by linkage disequilibrium score regression (LDSC), Mendelian randomization (MR), and regression model, respectively...
March 20, 2024: Human Genetics
https://read.qxmd.com/read/38504175/diabetes-mellitus-and-idiopathic-pulmonary-fibrosis-a-mendelian-randomization-study
#9
JOURNAL ARTICLE
Quou Kang, Jing Ren, Jinpeng Cong, Wencheng Yu
BACKGROUND: The question as to whether or not diabetes mellitus increases the risk of idiopathic pulmonary fibrosis (IPF) remains controversial. This study aimed to investigate the causal association between type 1 diabetes (T1D), type 2 diabetes (T2D), and IPF using Mendelian randomization (MR) analysis. METHODS: We used two-sample univariate and multivariate MR (MVMR) analyses to investigate the causal relationship between T1D or T2D and IPF. We obtained genome-wide association study (GWAS) data for T1D and T2D from the European Bioinformatics Institute, comprising 29,652 T1D samples and 101,101 T1D single nucleotide polymorphisms (SNPs) and 655,666 T2D samples and 5,030,727 T2D SNPs...
March 20, 2024: BMC Pulmonary Medicine
https://read.qxmd.com/read/38499234/variants-in-3p24-3-predicts-the-risk-of-early-neurological-deterioration-in-large-artery-atherosclerotic-stroke
#10
JOURNAL ARTICLE
Xiaoya Huang, Qiang Ye, Zhenguo Zhu, Yanyan Chen, Niange Xia, Rongrong Chen, Wujun Geng, Zusen Ye
The rate of early neurological deterioration (END) differs in different subtypes of ischaemic stroke. Previous studies showed PLCL2 gene is a novel susceptibility locus for the occurrence of atherosclerosis and thrombotic events. The objective of this research is to examine the efficacy that PLCL2 may have on the risk of END in large artery atherosclerotic (LAA) stroke. Tagged single nucleotide polymorphisms (SNPs) were identified by a strategy of fine-mapping. The genotyping of the selected SNPs was performed by SNPscan...
March 16, 2024: Brain Research
https://read.qxmd.com/read/38499207/molecular-genealogy-of-metabolic-associated-hepatocellular-carcinoma
#11
JOURNAL ARTICLE
Takahiro Kodama, Tetsuo Takehara
This review examines the latest epidemiological and molecular pathogenic findings of metabolic-associated hepatocellular carcinoma (HCC). Its increasing prevalence is a significant concern and reflects the growing burden of obesity and metabolic diseases, including metabolic dysfunction-associated steatotic liver disease (MASLD), formerly known as nonalcoholic fatty liver disease (NAFLD), and type 2 diabetes. Metabolic-associated HCC has unique molecular abnormality and distinctive gene expression patterns implicating aberrations in bile acid, fatty acid metabolism, oxidative stress, and proinflammatory pathways...
March 18, 2024: Seminars in Liver Disease
https://read.qxmd.com/read/38495787/a-two-sample-bidirectional-mendelian-randomization-analysis-investigates-associations-between-gut-microbiota-and-type-2-diabetes-mellitus
#12
JOURNAL ARTICLE
Siyuan Song, Qiling Zhang, Li Zhang, Xiqiao Zhou, Jiangyi Yu
OBJECTIVE: This study sought to elucidate the causal association between gut microbiota (GM) composition and type 2 diabetes mellitus (T2DM) through a comprehensive two-sample bidirectional Mendelian randomization analysis. METHOD: T2DM data were sourced from the IEU OpenGWAS Project database, complemented by 211 gut microbiota (GM) datasets from the MiBioGen Federation. The primary analytical approach employed was inverse variance weighted (IVW), supplemented by MR-Egger regression and weighted median (WME) methods to investigate their potential interplay...
2024: Frontiers in Endocrinology
https://read.qxmd.com/read/38487540/the-ifih1-a946t-risk-variant-promotes-diabetes-in-a-sex-dependent-manner
#13
JOURNAL ARTICLE
Amanda J Stock, Pierina Gonzalez Paredes, Luciana Previato de Almeida, Stanley D Kosanke, Srinivaas Chetlur, Hannah Budde, Paul Wakenight, Theresa A Zwingman, Aaron B I Rosen, Eric J Allenspach, Kathleen J Millen, Jane H Buckner, David J Rawlings, Jacquelyn A Gorman
Type 1 diabetes (T1D) is an autoimmune disease in which pancreatic islet β-cells are attacked by the immune system, resulting in insulin deficiency and hyperglycemia. One of the top non-synonymous single-nucleotide polymorphisms (SNP) associated with T1D is in the interferon-induced helicase C domain-containing protein 1 ( IFIH1 ), which encodes an anti-viral cytosolic RNA sensor. This SNP results in an alanine to threonine substitution at amino acid 946 ( IFIH1A946T ) and confers an increased risk for several autoimmune diseases, including T1D...
2024: Frontiers in Immunology
https://read.qxmd.com/read/38483771/whole-genome-sequencing-of-mouse-lines-divergently-selected-for-fatness-fli-and-leanness-fhi-revealed-several-genetic-variants-as-candidates-for-novel-obesity-genes
#14
JOURNAL ARTICLE
Martin Šimon, Špela Mikec, Santosh S Atanur, Janez Konc, Nicholas M Morton, Simon Horvat, Tanja Kunej
BACKGROUND: Analysing genomes of animal model organisms is widely used for understanding the genetic basis of complex traits and diseases, such as obesity, for which only a few mouse models exist, however, without their lean counterparts. OBJECTIVE: To analyse genetic differences in the unique mouse models of polygenic obesity (Fat line) and leanness (Lean line) originating from the same base population and established by divergent selection over more than 60 generations...
March 14, 2024: Genes & Genomics
https://read.qxmd.com/read/38483572/shared-and-distinct-genetics-of-pure-type-1-diabetes-and-type-1-diabetes-with-celiac-disease-homology-in-their-auto-antigens-and-immune-dysregulation-states-a-study-from-north-india
#15
JOURNAL ARTICLE
Navchetan Kaur, Jagdeep Singh, Ranjana W Minz, Shashi Anand, Biman Saikia, Sanjay K Bhadada, Devi Dayal, Manoj Kumar, Sandeep K Dhanda
AIM: This study was undertaken to explicate the shared and distinctive genetic susceptibility and immune dysfunction in patients with T1D alone and T1D with CD (T1D + CD). METHODS: A total of 100 T1D, 50 T1D + CD and 150 healthy controls were recruited. HLA-DRB1/DQB1 alleles were determined by PCR-sequence-specific primer method, SNP genotyping for CTLA-4 and PTPN22 was done by simple probe-based SNP-array and genotyping for INS-23 Hph1 A/T was done by RFLP...
March 14, 2024: Acta Diabetologica
https://read.qxmd.com/read/38481313/large-scale-causal-analysis-of-gut-microbiota-and-six-common-complications-of-diabetes-a-mendelian-randomization-study
#16
JOURNAL ARTICLE
Jiachen Wang, Menghao Teng, Ruoyang Feng, Xiaochen Su, Ke Xu, Junxiang Wang, Guoqiang Wang, Yulong Zhang, Peng Xu
BACKGROUND: This study aimed to reveal the association between the gut microbiota (GM) and six diabetic complications: diabetic hypoglycemia; ketoacidosis; nephropathy; neuropathy; retinopathy; and Charcot's foot. METHODS: GM data were obtained from the MiBioGen consortium and Dutch Microbiome Project while data on the six diabetic complications were obtained from the FinnGen consortium. Two-sample Mendelian randomization (TSMR) was performed to explore the association between GM and the common diabetic complications...
March 13, 2024: Diabetology & Metabolic Syndrome
https://read.qxmd.com/read/38478114/association-of-combined-344t-c-and-k173r-polymorphisms-in-aldosterone-synthase-gene-with-type-2-diabetes-mellitus-in-the-moroccan-population
#17
JOURNAL ARTICLE
Youssef Nouhi, Fatima-Zahrae Aboubakr, Otmane El Brini, Bouchra Benazzouz, Omar Akhouayri
Background : Aldosterone synthase (CYP11B2) is crucial for aldosterone production, and variations in its gene may influence type 2 diabetes mellitus (T2DM) development. This study explores the link between two single nucleotide polymorphisms (SNPs) in the CYP11B2 gene - -344T/C and K173R and T2DM in the Moroccan population . Methods : The research involved 86 individuals with T2DM and 75 control subjects. Genotyping for the -344T/C and K173R SNPs was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis ...
March 13, 2024: Romanian Journal of Internal Medicine
https://read.qxmd.com/read/38477501/glycemic-traits-and-colorectal-cancer-survival-in-a-cohort-of-south-korean-patients-a-mendelian-randomization-analysis
#18
JOURNAL ARTICLE
So Yon Jun, Sooyoung Cho, Min Jung Kim, Ji Won Park, Seung-Bum Ryoo, Seung Yong Jeong, Kyu Joo Park, Aesun Shin
BACKGROUND: Clinical diabetic traits have been reported to be associated with increased colorectal cancer (CRC) risk in observational studies. Using the Mendelian randomization (MR) analysis method, we examined the causal association between glycemic traits, such as fasting glucose (FG), fasting insulin (FI), and glycosylated hemoglobin A1c (HbA1c), and survival in a cohort of CRC patients. METHODS: We conducted a two-sample MR analysis among a cohort of patients with locally advanced CRC at Seoul National University Hospital...
March 2024: Cancer Medicine
https://read.qxmd.com/read/38466796/inhibition-of-sodium-glucose-cotransporter-2-and-liver-related-complications-in-individuals-with-diabetes-a-mendelian-randomization-and-population-based-cohort-study
#19
JOURNAL ARTICLE
Sung Won Chung, Hye-Sung Moon, Hyunjae Shin, Hyein Han, Sehoon Park, Heejin Cho, Jeayeon Park, Moon Haeng Hur, Min Kyung Park, Sung-Ho Won, Yun Bin Lee, Eun Ju Cho, Su Jong Yu, Dong Ki Kim, Jung-Hwan Yoon, Jeong-Hoon Lee, Yoon Jun Kim
BACKGROUND AIMS: No medication has been found to reduce the liver-related events. We evaluated the effect of sodium-glucose cotransporter-2 inhibitor (SGLT2i) on liver-related outcomes. APPROACH RESULTS: Single nucleotide polymorphisms (SNPs) associated with SGLT2 inhibition were identified, and a genetic risk score (GRS) was computed using the UK Biobank (UKB) data (n=337,138). Two-sample Mendelian randomization (MR) was conducted using the FinnGen (n=218,792) database and UKB data...
March 11, 2024: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://read.qxmd.com/read/38464367/genotype-based-precision-nutrition-strategies-for-the-prediction-and-clinical-management-of-type-2-diabetes-mellitus
#20
REVIEW
Omar Ramos-Lopez
Globally, type 2 diabetes mellitus (T2DM) is one of the most common metabolic disorders. T2DM physiopathology is influenced by complex interrelationships between genetic, metabolic and lifestyle factors (including diet), which differ between populations and geographic regions. In fact, excessive consumptions of high fat/high sugar foods generally increase the risk of developing T2DM, whereas habitual intakes of plant-based healthy diets usually exert a protective effect. Moreover, genomic studies have allowed the characterization of sequence DNA variants across the human genome, some of which may affect gene expression and protein functions relevant for glucose homeostasis...
February 15, 2024: World Journal of Diabetes
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