HNF1A gene polymorphisms and cardiovascular risk factors in individuals with late-onset autosomal dominant diabetes: a cross-sectional study

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dc.contributor.author Giuffrida, Fernando de Mello Almada [UNIFESP]
dc.contributor.author Furuzawa, Gilberto [UNIFESP]
dc.contributor.author Kasamatsu, Teresa Sayoko [UNIFESP]
dc.contributor.author Oliveira, Marcos M. [UNIFESP]
dc.contributor.author Reis, Andre Fernandes [UNIFESP]
dc.contributor.author Dib, Sergio Atala [UNIFESP]
dc.date.accessioned 2016-01-24T13:52:38Z
dc.date.available 2016-01-24T13:52:38Z
dc.date.issued 2009-06-02
dc.identifier http://dx.doi.org/10.1186/1475-2840-8-28
dc.identifier.citation Cardiovascular Diabetology. London: Biomed Central Ltd, v. 8, 9 p., 2009.
dc.identifier.issn 1475-2840
dc.identifier.uri http://repositorio.unifesp.br/handle/11600/31596
dc.description.abstract Background: Type 2 diabetes mellitus (T2DM) is a genetically heterogeneous disease, hepatocyte nuclear factor-1 homeobox A (HNF1A) single-nucleotide polymorphisms (SNPs) playing a minor role in its pathogenesis. HNF1A is a frequent cause of monogenic diabetes, albeit with early-onset. Some uncommon subgroups like late-onset autosomal dominant diabetes mellitus (LOADDM) may present peculiar inheritance patterns with a stronger familial component. This study aims to investigate the relationship of HNF1A SNPs with cardiovascular risk factors in this group, as well as to characterize them in contrast with classical T2DM (CT2DM).Methods: eighteen LOADDM (age at onset > 40 y.o.; diabetes in 3 contiguous generations, uniparental lineage) along with 48 CT2DM patients and 42 normoglycemic controls (N group) have been evaluated for cardiovascular risk factors and SNPs of HNF1A.Results: LOADDM showed significantly higher frequencies of SNPs A98V (22.2% vs 2.1%, p = 0.02) and S487N (72.2% vs 43.8%, p = 0.049) of HNF1A compared to CT2DM. I27L did not show significant difference (66.7% vs 45.8%), but associated with lower risk of hypertriglyceridemia (OR 0.16, 95% CI 0.04-0.65, p = 0.01). Protective effect was independent from other well-known predictive risk factors for hypertriglyceridemia, such as waist circumference (OR 1.09 per 1 cm increase, p = 0.01) and HDL (OR 0.01 per 1 mmol/l, p = 0.005), after logistic regression.Conclusion: Late onset autosomal dominant diabetes mellitus is clinically indistinguishable from classical type 2 diabetes individuals. However, LOADDM group is enriched for common HNF1A polymorphisms A98V and S487N. I27L showed protective effect upon hypertriglyceridemia in this sample of individuals, suggesting a role for HNF1A on diabetic individuals' lipid profile. These data contribute to the understanding of the complex interactions between genes, hyperglycemia and cardiovascular risk factors development in type 2 diabetes mellitus. en
dc.description.sponsorship Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.format.extent 9
dc.language.iso eng
dc.publisher Biomed Central Ltd
dc.relation.ispartof Cardiovascular Diabetology
dc.rights Acesso aberto
dc.title HNF1A gene polymorphisms and cardiovascular risk factors in individuals with late-onset autosomal dominant diabetes: a cross-sectional study en
dc.type Artigo
dc.contributor.institution Universidade Federal de São Paulo (UNIFESP)
dc.description.affiliation Universidade Federal de São Paulo, Dept Med, Disciplina Endocrinol, São Paulo, Brazil
dc.description.affiliationUnifesp Universidade Federal de São Paulo, Dept Med, Disciplina Endocrinol, São Paulo, Brazil
dc.description.sponsorshipID FAPESP: 03/12419-4
dc.identifier.file WOS000267031500001.pdf
dc.identifier.doi 10.1186/1475-2840-8-28
dc.description.source Web of Science
dc.identifier.wos WOS:000267031500001



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