Cardiovascular risk stratification in diabetic patients with MODY

• Grant number: 15/05123-9
• Support Opportunities: Regular Research Grants
• Start date: August 01, 2015
• End date: July 31, 2017
• Field of knowledge: Health Sciences - Medicine
• Principal Investigator: André Fernandes Reis
• Grantee: André Fernandes Reis
• Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil
• Associated researchers: Magnus Régios Dias da Silva

Abstract

Cardiovascular disease is the leading cause of death in patients with all forms of diabetes mellitus (DM), representing approximately 80% of the mortality of these patients. The MODY (maturity onset diabetes of the young) is a subtype of monogenic DM associated with at least 13 distinct genetic etiologies. Cardiovascular disease in patients with MODY is a little studied topic. Among the markers of cardiovascular disease, including in DM, there is the use of coronary calcium score (ECC) and clinical and laboratory scores as Framingham Score. Objective: Stratified the risk of cardiovascular disease in patients with monogenic forms of DM MODY (GCK, HNF-1a, HNF-4A and HNF-1B MODY). Patients and Methods: We will evaluate 40 patients with genetic diagnosis of mutations within genes GCK, HNF1A, HNF4A. For the control group will be assessed equal number of family members or nondiabetic spouses, matched for age and sex to compare the clinical parameters, cardiovascular risk assessment, and frequency of previous cardiovascular disease. In risk stratification will also be analyzed, the data of 25 patients with DM1 and DM2 25 with no history of cardiovascular disease. We will calculate the Framingham score, metabolic syndrome, and ECC performed dosages associated with cardiovascular risk and metabolic control. Genetic analysis will be performed by sequencing and multiplex ligation direct-dependent probe amplification assay (MLPA). The results could help to define the risk of cardiovascular disease in the DM subgroup, providing more specific preventive measures. (AU)

Scientific publications

(8)

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

GABRIELA IRENE GARCIA BRANDES; RENATA PEIXOTO-BARBOSA; ANA PAULA GOMES MESKI; FERNANDO M. A. GIUFFRIDA; ANDRÉ F. REIS. Granuloma annulare and necrobiosis lipoidica in a patient with HNF1A-MODY. ARCHIVES OF ENDOCRINOLOGY METABOLISM, 2022-05-18. (15/05123-9)

DOTTO, RENATA P.; DE SANTANA, LUCAS SANTOS; LINDSEY, SUSAN C.; CAETANO, LILIAN ARAUJO; FRANCO, LUCIANA F.; MOISES, REGINA CELIA M. S.; SA, JOAO R.; NISHIURA, JOSE LUIZ; TELES, MILENA GURGEL; HEILBERG, ITA P.; et al. Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia. ARCHIVES OF ENDOCRINOLOGY METABOLISM, v. 63, n. 3, p. 250-257, MAY-JUN 2019. (15/05123-9, 13/19920-2)

FRANCO, LUCIANA F.; SZARF, GILBERTO; DOTTO, RENATA P.; DIB, SERGIO A.; MOISES, REGINA S.; GIUFFRIDA, FERNANDO M. A.; REIS, ANDRE F.. Cardiovascular risk assessment by coronary artery calcium score in subjects with maturity-onset diabetes of the young caused by glucokinase mutations. Diabetes Research and Clinical Practice, v. 176, JUN 2021. (15/05123-9)

DOTTO, RENATA P.; GIUFFRIDA, FERNANDO M. A.; FRANCO, LUCIANA; MATHEZ, ANDREIA L. G.; WEINERT, LETICIA S.; SILVEIRO, SANDRA P.; SA, JOAO R.; REIS, ANDRE F.; DIAS-DA-SILVA, MAGNUS R.. Unexpected finding of a whole HNF1B gene deletion during the screening of rare MODY types in a series of Brazilian patients negative for GCK and HNF1A mutations. Diabetes Research and Clinical Practice, v. 116, p. 100-104, JUN 2016. (15/05123-9, 11/20747-8)

DE SANTANA, LUCAS S.; CAETANO, LILIAN A.; COSTA-RIQUETTO, ALINE D.; FRANCO, PEDRO C.; DOTTO, RENATA P.; REIS, ANDRE F.; WEINERT, LETICIA S.; SILVEIRO, SANDRA P.; VENDRAMINI, MARCIO F.; DO PRADO, FLAVIENE A.; et al. Targeted sequencing identifies novel variants in common and rare MODY genes. MOLECULAR GENETICS & GENOMIC MEDICINE, v. 7, n. 12, DEC 2019. (17/14703-4, 13/19920-2, 17/15365-5, 15/05123-9, 13/02162-8)

GIUFFRIDA, FERNANDO M. A.; MOISES, REGINA S.; WEINERT, LETICIA S.; CALLIARI, LUIS E.; DELLA MANNA, THAIS; DOTTO, RENATA P.; FRANCO, LUCIANA F.; CAETANO, LILIAN A.; TELES, MILENA G.; LIMA, RENATA ANDRADE; et al. Maturity-onset diabetes of the young (MODY) in Brazil: Establishment of a national registry and appraisal of available genetic and clinical data. Diabetes Research and Clinical Practice, v. 123, p. 134-142, JAN 2017. (15/05123-9)

GABRIELA IRENE GARCIA BRANDES; RENATA PEIXOTO-BARBOSA; ANA PAULA GOMES MESKI; FERNANDO M. A. GIUFFRIDA; ANDRÉ F. REIS. Granuloma annulare and necrobiosis lipoidica in a patient with HNF1A-MODY. ARCHIVES OF ENDOCRINOLOGY METABOLISM, v. 66, n. 3, p. 420-424, 2022-05-18. (15/05123-9)

GIUFFRIDA, FERNANDO M.; FRANCO, LUCIANA F.; SZARF, GILBERTO; DOTTO, RENATA P.; KUNII, ILDA S.; MOISES, REGINA C. S.; DIAS-DA-SILVA, MAGNUS R.; REIS, ANDRE F.. Cardiovascular Risk Assessed by Coronary Calcium Score Is Lower in GCK-MODY than in Controls and Type 2 Diabetes. Diabetes, v. 65, p. 1-pg., 2016-06-01. (15/05123-9)