scholarly journals Novel Genetic Findings in a Chinese Family with Early-Onset Female-Related Type 2 Diabetes

2017 ◽  
Vol 13 (3) ◽  
pp. 364-369
Author(s):  
T Zhou
2016 ◽  
Vol 2016 ◽  
pp. 1-8 ◽  
Author(s):  
Ying Yang ◽  
Tai-Cheng Zhou ◽  
Yong-Ying Liu ◽  
Xiao Li ◽  
Wen-Xue Wang ◽  
...  

Maturity-onset diabetes of the young (MODY) is characterized by the onset of diabetes before the age of 25 years, positive family history, high genetic predisposition, monogenic mutations, and an autosomal dominant mode of inheritance. Here, we aimed to investigate the mutations and to characterize the phenotypes of a Han Chinese family with early-onset maternally inherited type 2 diabetes. Detailed clinical assessments and genetic screening for mutations in theHNF4α,GCK,HNF-1α,IPF-1,HNF1β, andNEUROD1genes were carried out in this family. One HNF4A mutation (p.T130I) and two HNF1A polymorphisms (p.I27L and p.S487N) were identified. Mutation p.T130I was associated with both early-onset and late-onset diabetes and caused downregulatedHNF4Aexpression, whereas HNF1A polymorphisms p.I27L and p.S487N were associated with the age of diagnosis of diabetes. We demonstrated that mutation p.T130I in HNF4A was pathogenic as were the predicted polymorphisms p.I27L and p.S487N in HNF1A by genetic and functional analysis. Our results show that mutations inHNF4AandHNF1Agenes might account for this early-onset inherited type 2 diabetes.


2021 ◽  
pp. 1-11
Author(s):  
Baizid Khoorshid Riaz ◽  
Shahjada Selim ◽  
Megan Neo ◽  
Md Nazmul Karim ◽  
M. Mostafa Zaman

<b><i>Methodology:</i></b> Biochemically confirmed type 2 diabetes mellitus (T2DM) patients (<i>n</i> = 1,114) were recruited from the outpatient department of 2 tertiary care hospitals in Dhaka, Bangladesh. Face-to-face interview was conducted using a semi-structured questionnaire containing sociodemographic parameters and relevant information about depression and diabetes. Biochemical test results and treatment-related information were taken from patients’ records. The Hospital Anxiety and Depression Scale (HADS) was used to screen all patients for psychiatric manifestation. Those diagnosed by HADS were subsequently reassessed using structured clinical interview for DSM-5 Disorders – Clinician Version. T2DM diagnosed at age &#x3c;40 years were considered as early onset T2DM. Association between age of onset category and depression was assessed using multivariable mixed-effect logistic regression adjusting for random variation of the area of residence and plausible confounders. <b><i>Results:</i></b> Around a third of the participants (32.5%) were diagnosed with T2DM before the age of 40 years. Early onset T2DM patients were found to have 57% increase in the risk of developing depression (OR 1.57; 95% CI 1.13–2.28; <i>p</i> = 0.011) in comparison to those with usual onset T2DM (≥40 years). Among other factors a positive family history for diabetes (OR 1.33; 95% CI 1.03–1.78; <i>p</i> = 0.038), poor glycemic control (OR 1.31; 95% CI 1.03–1.68; <i>p</i> = 0.028), presence of 1, or more diabetic complications (OR 1.37; 95% CI 1.03–1.78; <i>p</i> = 0.011) also showed increased risk of depression. <b><i>Conclusion:</i></b> Early onset T2DM patients are at greater risk of developing depression. The finding is likely to help in setting preventive strategies aiming to reduce the presence of concomitant depression symptoms among diabetes.


Diabetologia ◽  
2021 ◽  
Author(s):  
Amélie Keller ◽  
Fanney Thorsteinsdottir ◽  
Maria Stougaard ◽  
Isabel Cardoso ◽  
Peder Frederiksen ◽  
...  

Diabetes Care ◽  
2020 ◽  
Vol 44 (1) ◽  
pp. 231-239
Author(s):  
John Epoh Dibato ◽  
Olga Montvida ◽  
Francesco Zaccardi ◽  
Jack Alistair Sargeant ◽  
Melanie J. Davies ◽  
...  

2007 ◽  
Vol 28 (11) ◽  
pp. 1150-1150 ◽  
Author(s):  
O. Porzio ◽  
O. Massa ◽  
V. Cunsolo ◽  
C. Colombo ◽  
M. Malaponti ◽  
...  

2011 ◽  
Vol 2011 ◽  
pp. 1-7 ◽  
Author(s):  
Miira Klemetti ◽  
Leena M. Hiltunen ◽  
Sanna Heino ◽  
Seppo Heinonen ◽  
Eero Kajantie ◽  
...  

Previous studies have demonstrated a common variant of the obesity and fat mass-relatedFTOgene, rs9939609, to be associated with obesity, type 2 diabetes, and elevated blood pressure. We investigated whether theFTOSNP rs9939609 is associated with the risk of preeclampsia (PE) in a Finnish study population. 485 women with prior PE and 449 women who had given birth after a normotensive pregnancy were genotyped (TaqMan) for the SNP rs9939609. The prevalences of genotypes AA, AT, and TT were 15%, 53%, and 32%, respectively, among the PE cases, and 16%, 47%, and 37%, respectively, among the controls (P=0.199). We found no evidence of an association between theFTOSNP rs9939609 and PE. However, our cases were dominated by severe, early-onset PE. Thus, we are unable to exclude an association with the milder, later-onset form of the disease in which the role of maternal metabolic predisposition could be more significant.Erratum to “An Obesity-RelatedFTOVariant and the Risk of Preeclampsia in a Finnish Study Population”


2008 ◽  
Vol 82 (1) ◽  
pp. 80-86 ◽  
Author(s):  
Yasuko Uchigata ◽  
Toshika Otani ◽  
Hiroko Takaike ◽  
Junnosuke Miura ◽  
Mari Osawa ◽  
...  

2013 ◽  
Vol 72 (1) ◽  
pp. 21190 ◽  
Author(s):  
Julia D. Rempel ◽  
Juliet Packiasamy ◽  
Heather J. Dean ◽  
Jonathon McGavock ◽  
Alyssa Janke ◽  
...  

2017 ◽  
Vol 15 (9) ◽  
pp. 458-464 ◽  
Author(s):  
Gadadharan Vijayakumar ◽  
Ganapathy K. Sreehari ◽  
Aswathi Vijayakumar ◽  
Abdul Jaleel

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