scholarly journals Gain-of-Function Mutations of SLC16A11 Contribute to the Pathogenesis of Type 2 Diabetes

Cell Reports ◽  
2019 ◽  
Vol 26 (4) ◽  
pp. 884-892.e4 ◽  
Author(s):  
Yongxu Zhao ◽  
Zhuanghui Feng ◽  
Yongxian Zhang ◽  
Yingmin Sun ◽  
Yanhao Chen ◽  
...  
Cell Reports ◽  
2019 ◽  
Vol 29 (3) ◽  
pp. 778-780 ◽  
Author(s):  
Eitan Hoch ◽  
Jose C. Florez ◽  
Eric S. Lander ◽  
Suzanne B.R. Jacobs

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.


2005 ◽  
Vol 173 (4S) ◽  
pp. 283-284
Author(s):  
Istvan Kovanecz ◽  
Monica G. Ferrini ◽  
Hugo H. Davila ◽  
Jacob Rajfer ◽  
Nestor F. Gonzalez-Cadavid
Keyword(s):  

2008 ◽  
Vol 42 (10) ◽  
pp. 1-4
Author(s):  
MIRIAM E. TUCKER
Keyword(s):  

2008 ◽  
Vol 41 (10) ◽  
pp. 8
Author(s):  
MARTIN J. ABRAHAMSON ◽  
BARRY J. GOLDSTEIN

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