The insulin polymorphism -23Hph increases the risk for type 1 diabetes mellitus in the Romanian population

Cimponeriu, Danut; Apostol, Pompilia; Radu, I.; Craciun, Anne M.; Serafinceanu, Cristian; Toma, M.; Panaite, Cristian; Cheţa, D

doi:10.1590/s1415-47572010005000074

Cited by 5 publications

(3 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Mathematical models estimate that, adding the HLA and VNTR contribution, up to 60% of the total genetic component of T1D is obtained [ 19 ]. VNTR polymorphisms located in the insulin promoter, 596 bp upstream of the insulin start codon, consist of a highly polymorphic tandem repeat sequence ACAGGGGTGTGGGG (14 pb) whose variants are grouped into three classes of alleles according to their length [ 20 , 21 ]. Regarding our population, VNTR is in linkage disequilibrium with rs689 where class I VNTR allele is associated with autoimmunity and inherited linked to the Adenine SNP allele.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

The Genetic Profile from HLA and Non-HLA Loci Allows Identification of Atypical Type 2 Diabetes Patients

Fabregat

Fernández

Javiel

et al. 2015

Journal of Diabetes Research

View full text Add to dashboard Cite

The complex diagnosis and treatment of diabetes highlight the need for markers to define how to monitor patients correctly during the course of their disease. Different studies demonstrate the existence of patients who cannot be clearly classified. We have previously shown that it is possible to differentiate “atypical diabetic patients” based on genotyping the HLA. In this work we show that the analysis of non-HLA related to type 1 diabetes in the INS-VNTR, SNP rs689, and rs3842753 improves the identification of these patients. We genotyped 913 individuals comprising controls from the general population and “classic” and “atypical” diabetic patients. We compared the distribution of these loci and analyzed linkage disequilibrium. The haplotype was in LD for all the SNPs that were evaluated. Regarding their association with the disease, the haplotype IAC was associated with type 1 (odds 2.60, 1.82–3.72, CI 95%) and “atypical diabetes” (odds 1.50, 1.01–2.23, CI 95%), whereas we did not observe an association with type 2 diabetes. Therefore, our results confirm that atypical diabetes is a different entity of the disease where the patient presents with a genetic background of T1D and a T2D phenotype, findings that are likely to be relevant for patient diagnosis and management in the clinic.

show abstract

Section: Introductionmentioning

confidence: 99%

“…Even in the presence of autoantibodies and a high-risk HLA genotype, individuals carrying class III VNTR alleles present a significant reduction in the probability of developing the disease [ 24 , 25 ]. Based on this association, major studies have used 23HphI (rs689) as an associated marker to study the VNTR [ 21 , 26 , 27 ].…”

Section: Introductionmentioning

confidence: 99%

The Genetic Profile from HLA and Non-HLA Loci Allows Identification of Atypical Type 2 Diabetes Patients

Fabregat

Fernández

Javiel

et al. 2015

Journal of Diabetes Research

View full text Add to dashboard Cite

show abstract

“…However, they showed that the A/A genotype rather than the T/T genotype was associated with higher mean BMI and waist circumference (Huede et al 2004;Le Stunff et al 2001). In contrast, no significant associations between the INS polymorphisms with childhood and adult obesity among the Europeans (Bouatio-Naji et al 2008;Cimponeriu et al 2010), and with body composition in early childhood (Maas et al 2010) were reported. In our study, there was also lack of association between the INSR rs3745551 and childhood obesity in the Malay population.…”

Section: Discussionmentioning

confidence: 99%

Association between Polymorphisms of Insulin and Insulin Receptor Gene with Childhood Obesity in Malay Population

Teh

Nizam

Chong

et al. 2016

JSKM

View full text Add to dashboard Cite

Childhood obesity is a global epidemic, which leads to the increasing number of studies on genetic locations associated with obesity-related traits. Polymorphisms of insulin (INS) gene have been shown to be associated with obesity-related phenotypes in Europeans Obesiti kanak-kanak merupakan epidemik di seluruh dunia dan telah menyebabkan pertambahan kajian mengenai lokasi gen berkaitan dengan ciri-ciri obesiti. Polimorfisme gen insulin (INS) telah dikaitkan dengan fenotip obesiti dalam kalangan orang Eropah manakala gen reseptor insulin (INSR) berhubung kait dengan regulasi tenaga. Oleh itu, kajian ini dijalankan untuk mengkaji hubungan antara polimorfisme gen INS (rs689) dan gen INSR (rs3745551) dengan risiko obesiti kanak-kanak dalam populasi Melayu. Kanak-kanak yang berumur 6-12 tahun dan mempunyai berat badan normal (528 orang) dan kanak-kanak yang mempunyai berat badan berlebihan atau obes (557 orang) digenotip dengan menggunakan Sequenom iPLEX® Gold yang bersemi-automasi. Indeks jisim badan dikira daripada ukuran berat badan dan ketinggian. Distribusi genotip rs689 (T/T: 0.006, A/T: 0.159 and A/A: 0.835) dan rs3745551 (G/G: 0.054, A/G: 0.378 and A/A: 0.568)

show abstract

Association of INS VNTR polymorphisms with polycystic ovary syndrome (PCOS) in south Indian population

et al. 2018

View full text Add to dashboard Cite

The insulin polymorphism -23Hph increases the risk for type 1 diabetes mellitus in the Romanian population

Cited by 5 publications

References 29 publications

The Genetic Profile from HLA and Non-HLA Loci Allows Identification of Atypical Type 2 Diabetes Patients

The Genetic Profile from HLA and Non-HLA Loci Allows Identification of Atypical Type 2 Diabetes Patients

Association between Polymorphisms of Insulin and Insulin Receptor Gene with Childhood Obesity in Malay Population

Association of INS VNTR polymorphisms with polycystic ovary syndrome (PCOS) in south Indian population

Contact Info

Product

Resources

About