MicroRNA genetic variations: Association with type 2 diabetes

Cinzia Ciccacci, Davide Di Fusco, Laura Cacciotti, Roberto Morganti, Cinzia D'Amato, Carla Greco, Sara Rufini, Giuseppe Novelli, Federica Sangiuolo, Vincenza Spallone, Paola Borgiani

Research output: Contribution to journalArticlepeer-review


MicroRNAs are small single-stranded molecules that have emerged as important genomic regulators in different pathways. Different studies have shown that they are implicated in the metabolism and glucose homeostasis, and therefore, they could also be involved in the pathogenesis of metabolic disorders such as type 2 diabetes (T2DM). The aim of this study was to verify whether genetic variations in candidate microRNA (miRNA or miR) genes could contribute to T2DM susceptibility. We have selected 13 miRNAs as candidate loci according to literature data and to a computational analysis. MicroRNA genes were analyzed by direct sequencing in a cohort of 163 Italian T2DM patients and 185 healthy controls. We identified 6 novel variants never described before and 9 SNPs already described in databases. Five newly identified variants were found only in the cases group. We performed a case/control association study to test the associations of particular alleles/genotypes of identified SNPs with the disease. Two polymorphisms were associated with T2DM susceptibility: in particular, the G allele of rs895819 in hsa-mir-27a has shown a significantly protective effect (OR = 0.58 and P = 0.008), while the G allele of rs531564 in hsa-mir-124a appears to be a risk allele (OR = 2.15, P = 0.008). This is the first report indicating that genetic polymorphisms in miRNA regions could contribute to T2DM susceptibility.

Original languageEnglish
Pages (from-to)867-872
Number of pages6
JournalActa Diabetologica
Issue number6
Publication statusPublished - Dec 2013


  • MicroRNA
  • Single-nucleotide polymorphisms (SNPs)
  • Susceptibility alleles
  • Type 2 diabetes

ASJC Scopus subject areas

  • Endocrinology
  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism


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