scholarly journals Gain-of-Function Claims for Type-2-Diabetes-Associated Coding Variants in SLC16A11 Are Not Supported by the Experimental Data

Cell Reports ◽  
2019 ◽  
Vol 29 (3) ◽  
pp. 778-780 ◽  
Author(s):  
Eitan Hoch ◽  
Jose C. Florez ◽  
Eric S. Lander ◽  
Suzanne B.R. Jacobs
2006 ◽  
Vol 7 (1) ◽  
Author(s):  
Steven C Elbein ◽  
Xiaoqin Wang ◽  
Mohammad A Karim ◽  
Winston S Chu ◽  
Kristi D Silver

2015 ◽  
Vol 242 (1) ◽  
pp. 334-339 ◽  
Author(s):  
Sabrina Prudente ◽  
Diego Bailetti ◽  
Christine Mendonca ◽  
Gaia Chiara Mannino ◽  
Andrea Fontana ◽  
...  

2014 ◽  
Vol 94 (3) ◽  
pp. 479
Author(s):  
Kirk E. Lohmueller ◽  
Thomas Sparsø ◽  
Qibin Li ◽  
Ehm Andersson ◽  
Thorfinn Korneliussen ◽  
...  

Cell Reports ◽  
2019 ◽  
Vol 26 (4) ◽  
pp. 884-892.e4 ◽  
Author(s):  
Yongxu Zhao ◽  
Zhuanghui Feng ◽  
Yongxian Zhang ◽  
Yingmin Sun ◽  
Yanhao Chen ◽  
...  

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Samira Taghizadeh Jazdani ◽  
Hajieh Bibi Shahbazian ◽  
Bahman Cheraghian ◽  
Mohammad Taha Jalali ◽  
Narges Mohammadtaghvaei

Abstract Objective Many different genetic variants of proprotein convertase subtilisin kexin 9 (PCSK9) are related to the serum levels of cholesterol and LDL cholesterol (LDL-C). The rs615563 variant of PCSK9 (a gain-of-function mutation) is associated with increased triglycerides and cholesterol levels, but its association with the incidence of diabetes is not well defined. This study aimed to investigate the relationship between the PCSK9 rs615563 variant with the incidence of type 2 diabetes. The data reported in this study are based on subsamples from a 5-year (2009–2014) cohort study of the adult population (590 subjects) aged 20 years and older. The rs615563 polymorphism was genotyped using polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP) analysis. Results The distribution of PCSK9 rs615563 genotypes was not significantly different between the diabetic and non-diabetic individuals. The incidence of diabetes after five-years of follow-up was not different between the genotypes. Our findings also showed no significant relationship between this polymorphism and serum lipid parameters. The data extracted from our cohort study do not support the findings that the gain-of-function mutations of PCSK9 predispose to the incidence of type 2 diabetes.


Diabetes ◽  
2020 ◽  
Vol 69 (Supplement 1) ◽  
pp. 241-OR
Author(s):  
PETER DORNBOS ◽  
LAURA RAFFIELD ◽  
XIANYONG YIN ◽  
JASON FLANNICK

Author(s):  
Hajie Lotfi ◽  
Saeed Pirmoradi ◽  
Rasoul Mahmoudi ◽  
Mohammad Teshnehlab ◽  
Roghayeh Sheervalilou ◽  
...  

AbstractBackgroundThe global trend of obesity and diabetes is considerable. Recently, the early diagnosis and accurate prediction of type 2 diabetes mellitus (T2DM) patients have been planned to be estimated according to precise and reliable methods, artificial networks and machine learning (ML).Materials and methodsIn this study, an experimental data set of relevant features (adipocytokines and anthropometric levels) obtained from obese women (diabetic and non-diabetic) was analyzed. Machine learning was used to select significant features [by the separability-correlation measure (SCM) algorithm] for classification of women with the best accuracy and the results were evaluated using an artificial neural network (ANN).ResultsAccording to the experimental data analysis, a significant difference (p < 0.05) was found between fasting blood sugar (FBS), hemoglobin A1c (HbA1c) and visfatin level in two groups. Moreover, significant correlations were determined between HbA1c and FBS, homeostatic model assessment (HOMA) and insulin, total cholesterol (TC) level and body mass index (BMI) in non-diabetic women and insulin and HOMA, FBS and HbA1c, insulin and HOMA, systolic blood pressure (SBP) and diastolic blood pressure (DBP), BMI and TC and HbA1c and TC in the diabetic group. Furthermore, there were significant positive correlations between adipocytokines except for the resistin and leptin levels for both groups. The excellent (FBS and HbA1c), good (HOMA) and fair (visfatin, adiponectin and insulin) discriminators of diabetic women were determined based on specificities and sensitivities level. The more selected features in the ML method were FBS, apelin, visfatin, TC, HbA1c and adiponectin.ConclusionsThus, the subset of features involving FBS, apelin, visfatin and HbA1c are significant features and make the best discrimination between groups. In this study, based on statistical and ML results, the useful biomarkers for discrimination of diabetic women were FBS, HbA1c, HOMA, insulin, visfatin, adiponectin and apelin. Eventually, we designed useful software for identification of T2DM and the healthy population to be utilized in clinical diagnosis.


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