RESUMEN
Obesity rates in Cyprus are very high and epidemiological information on type 2 diabetes mellitus is limited. The correlates of type 2 diabetes among adults remain unknown in the Cypriot population. Thus, the purpose of this study is to provide the first national estimate of the prevalence of type 2 diabetes and investigate its correlates. A randomly stratified nationally sample of 1001 adults aged 18-80 participated in the study. Only 950 subjects completed the study. All subjects were free of any diseases (known diabetes, kidney, liver), medication and supplementation. The overall prevalence of diabetes and pre-diabetes based on WHO criteria was 9.2% and 16.3%, respectively. After adjusting for age, energy intake, smoking and physical activity participants with obesity (BMI) (OR=2.00, P<0.001), waist circumference (WC) (OR=2.08, P<0.001), hypertension (HT) (OR=1.99, P<0.001) and hypercholesterolemia (HC) (OR=2.07, P<0.007) were most likely to develop T2DM compared with the normal ones. The odds of having diabetes were also found significant between subjects with high levels of triglycerides (TG) (OR=1.49, P<0.007), compared with the normal ones and between subjects with low levels of HDL (OR=1.44, P<0.008) compared with the ones with high levels of HDL. The prevalence of type 2 diabetes in Cyprus is relatively medium-high. However, the pre-diabetes rates are very high showing a promising increase toward total rates of type 2 diabetes. Obesity, HT, WC, TG, HC and low HDL are all strong correlates of type 2 diabetes. Healthy education programs should be initiated for young and older-aged people and those with described abnormal risk factors.
Asunto(s)
Diabetes Mellitus Tipo 2/epidemiología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Presión Sanguínea , Índice de Masa Corporal , Comorbilidad , Chipre/epidemiología , Diabetes Mellitus Tipo 2/sangre , Diabetes Mellitus Tipo 2/diagnóstico , Femenino , Humanos , Hipercolesterolemia/sangre , Hipercolesterolemia/diagnóstico , Hipercolesterolemia/epidemiología , Hipertensión/diagnóstico , Hipertensión/epidemiología , Hipertensión/fisiopatología , Estilo de Vida , Lípidos/sangre , Modelos Logísticos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Obesidad/diagnóstico , Obesidad/epidemiología , Oportunidad Relativa , Estado Prediabético/sangre , Estado Prediabético/diagnóstico , Estado Prediabético/epidemiología , Prevalencia , Factores de Riesgo , Circunferencia de la Cintura , Adulto JovenRESUMEN
OBJECTIVES: The purpose of this study was to identify the mutations in the glutaryl-CoA dehydrogenase gene (GCDH) in ten Cypriot patients with Glutaric aciduria type I (GAI). DESIGN AND METHODS: Molecular analysis of the GCDH gene was performed by direct sequencing of the patients' genomic DNA. In silico tools were applied to predict the effect of the novel variants on the structure and function of the protein. RESULTS: All disease alleles were characterized (mutation detection rate 100%). Five missense mutations were identified: c.192G>T (p.Glu64Asp) and c.803G>T (p.Gly268Val), which are novel, and three previously described mutations, c.1123T>C (p.Cys375Arg), c.1204C>T (p.Arg402Trp) and c.1286C>T (p.Thr429Met). CONCLUSIONS: Two novel mutations, p.Glu64Asp and p.Gly268Val, account for the majority of disease alleles (76.5%) in Cypriot patients with Glutaric aciduria type I. A founder effect for the p.Glu64Asp and the p.Gly268Val can be suggested based on the place of origin of the carriers of these mutations. Identification of the causative mutations of GAI in Cypriot patients will facilitate carrier detection as well as post- and pre-natal diagnosis.
Asunto(s)
Errores Innatos del Metabolismo de los Aminoácidos/genética , Encefalopatías Metabólicas/genética , Glutaril-CoA Deshidrogenasa/deficiencia , Mutación Missense/genética , Adolescente , Adulto , Alelos , Niño , Preescolar , Femenino , Tamización de Portadores Genéticos , Glutaril-CoA Deshidrogenasa/genética , Humanos , Masculino , Adulto JovenRESUMEN
OBJECTIVES: The purpose of this study was to identify the mutations responsible for phenylalanine hydroxylase deficiency in Cypriot patients detected through neonatal screening. DESIGN AND METHODS: Analysis of the PAH gene was performed by direct sequencing of the patients' genomic DNA, MLPA analysis and real-time PCR. RESULTS: Among 22 independent alleles thirteen previously described mutations were detected (detection rate 100%), all in compound heterozygosity: p.Arg395Gly (18.2%), c.168+5G>C (13.6%), p.EX3del (9%), c.1066-11G>A (9%), p.Ala403Val (9%), p.Glu178Gly (9%), p.Ser70Pro (4.5%), p.Arg241His (4.5%), p.Phe55fs (4.5%), p.Arg158Gln (4.5%), p.Asp222Gly (4.5%), p.Ala300Ser (4.5%), p.Pro225Thr (4.5%). Of the ten different genotypes, three have been previously reported to be associated with a mild clinical phenotype and to respond to tetrahydrobiopterin (BH4) administration. CONCLUSIONS: Marked genetic heterogeneity was found in Cypriot patients with hyperphenylalaninemia with two mutations accounting for 32% of the alleles. Most of the mutations detected have been found in other European and Mediterranean populations.