The A allele of the rs1990760 polymorphism in the IFIH1 gene is associated with protection for arterial hypertension in type 1 diabetic patients and with expression of this gene in human mononuclear cells
dc.contributor.author | Bouças, Ana Paula | pt_BR |
dc.contributor.author | Brondani, Letícia de Almeida | pt_BR |
dc.contributor.author | Souza, Bianca Marmontel de | pt_BR |
dc.contributor.author | Lemos, Natália Emerim | pt_BR |
dc.contributor.author | Oliveira, Fernanda Santos de | pt_BR |
dc.contributor.author | Canani, Luis Henrique Santos | pt_BR |
dc.contributor.author | Crispim, Daisy | pt_BR |
dc.date.accessioned | 2019-10-10T03:50:59Z | pt_BR |
dc.date.issued | 2013 | pt_BR |
dc.identifier.issn | 1932-6203 | pt_BR |
dc.identifier.uri | http://hdl.handle.net/10183/200497 | pt_BR |
dc.description.abstract | Background: The rs1990760 polymorphism of interferon induced with helicase C domain 1 (IFIH1) has been associated with type 1 diabetes mellitus (T1DM). Here, we investigated whether this polymorphism is associated with T1DM or its clinical characteristics in a Brazilian population, and if IFIH1 gene expression in mononuclear cells from T1DM patients differs according to the genotypes of this polymorphism. A meta-analysis was also conducted to evaluate if the rs1990760 polymorphism is associated with T1DM. Methods: Frequencies of the rs1990760 polymorphism were analyzed in 527 T1DM patients and in 517 healthy subjects. IFIH1 gene expressions according to genotypes were measured in a sub-sample of 26 T1DM patients by quantitative realtime PCR. Results: Our data show the association of the A allele with risk to T1DM under a dominant model of inheritance [odds ratio (OR) = 1.421, P = 0.037], adjusting for ethnicity. The meta-analysis revealed significant association between the rs199760A allele and risk for T1DM for all analyzed inheritance models. Surprisingly, T1DM patients carrying the A allele showed lower levels of systolic (P = 0.001) and diastolic (P = 1610210) blood pressures as compared to G/G carriers. Furthermore, the A/A genotype seems to be associated with protection to arterial hypertension (AH) after adjustment for covariates (OR = 0.339, P = 0.019). IFIH1 gene expression in mononuclear cells from 26 T1DM patients did not differ among genotypes (P = 0.274). Nevertheless, IFIH1 gene expression was increased in mononuclear cells from T1DM patients with AH as compared with T1DM patients without AH [6.7 (1.7–2.0) vs. 1.8 (1.3–7.1) arbitrary units; P = 0.036]. The association with blood pressures and AH was not observed in patients with type 2 diabetes mellitus. Conclusions: Our results indicate that the rs1990760 polymorphism is associated with T1DM. Interestingly, the rs1990760 A allele seems to be associated with protection for AH in T1DM patients. Further studies are needed to confirm the association with AH. | en |
dc.format.mimetype | application/pdf | pt_BR |
dc.language.iso | eng | pt_BR |
dc.relation.ispartof | PLOS ONE. San Francisco. Vol. 8, no. 12 (Dec. 2013), e83451, 10 p. | pt_BR |
dc.rights | Open Access | en |
dc.subject | Hipertensão | pt_BR |
dc.subject | Estudos de associação genética | pt_BR |
dc.subject | RNA helicases DEAD-box | pt_BR |
dc.subject | Diabetes mellitus tipo 1 | pt_BR |
dc.title | The A allele of the rs1990760 polymorphism in the IFIH1 gene is associated with protection for arterial hypertension in type 1 diabetic patients and with expression of this gene in human mononuclear cells | pt_BR |
dc.type | Artigo de periódico | pt_BR |
dc.identifier.nrb | 001006779 | pt_BR |
dc.type.origin | Estrangeiro | pt_BR |
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