Role of the KCNJ Gene Variants in the Clinical Outcome of Type 1
                    Diabetes

Annalisa Blasetti; Valeria Castorani; Laura Comegna; Simone Franchini; Giovanni Prezioso; Martina Provenzano; Concetta Di Giulio; Daniela Iannucci; Lorena Matonti; Stefano Tumini; Francesco Chiarelli; Liborio Stuppia

doi:10.1055/a-1204-5443

Hormone and Metabolic Research, Inhaltsverzeichnis

Horm Metab Res 2020; 52(12): 856-860
DOI: 10.1055/a-1204-5443

Endocrine Care

Role of the KCNJ Gene Variants in the Clinical Outcome of Type 1 Diabetes

Annalisa Blasetti

¹Department of Pediatrics, University of Chieti, Chieti, Italy

,

Valeria Castorani

¹Department of Pediatrics, University of Chieti, Chieti, Italy

,

Laura Comegna

¹Department of Pediatrics, University of Chieti, Chieti, Italy

,

Simone Franchini

¹Department of Pediatrics, University of Chieti, Chieti, Italy

,

Giovanni Prezioso

¹Department of Pediatrics, University of Chieti, Chieti, Italy

,

Martina Provenzano

²Molecular Genetics Unit, CeSI-Met, Chieti, Italy

,

Concetta Di Giulio

³S.O.D. Pediatrics and Neonatology, Hospital of Senigallia, Senigallia, Italy

,

Daniela Iannucci

¹Department of Pediatrics, University of Chieti, Chieti, Italy

,

Lorena Matonti

¹Department of Pediatrics, University of Chieti, Chieti, Italy

,

Stefano Tumini

¹Department of Pediatrics, University of Chieti, Chieti, Italy

,

Francesco Chiarelli

¹Department of Pediatrics, University of Chieti, Chieti, Italy

,

Liborio Stuppia

²Molecular Genetics Unit, CeSI-Met, Chieti, Italy

› Institutsangaben

Abstract

Diabetes is considered as a disease with a wide and continuous clinical spectrum, ranging from Type 1 (T1D) and Type 2 Diabetes (T2D) with complex multifactorial causes. In the last years, particular attention has been focused on the predictive value and therapeutic potential of single nucleotide polymorphisms (SNPs). SNPs can alter the seed-sequence in miRNA’s loci and miRNA target sites causing changes in the structure and influencing the binding function. Only few studies have investigated the clinical influence of SNPs, in particular potassium inwardly rectifying channel, subfamily J, member 11 (KCNJ) gene variants in T1D population. The aim of the study is to investigate the occurrence and the possible metabolic significance of KCNJ polymorphism in a group of pediatric patients with T1D. The study was performed in a cohort of 90 Caucasian children and adolescents with T1D and 93 healthy subjects. Rs5210 polymorphism has been analyzed with a prevalence of the GG genotype in the patient group suggesting its association with T1D. Therefore, a relationship was found between GG genotype and body mass index (BMI) at diagnosis and insulin requirement (IR) after 6 months. The study suggested an action for rs5210 in determining the metabolic features of T1D pediatric patients, by showing some clues of insulin resistance in patients carrying that polymorphism.

Key words

gene polimorphisms - K-ATP channels - type 1 diabetes - type 2 diabetes - insulin resistance - type 1.5 diabetes

Volltext

Referenzen

References
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