ABSTRACT
La diabetes mellitus tipo 2 (DM2) se define genéticamente como una enfermedad compleja originada por la interacción del medio ambiente y los genes, que se encuentran ubicados en diferentes regiones del genoma humano. El gen calpaína 10 (CAPN10), localizado en 2q37.3, constituye un gen de susceptibilidad para esta enfermedad. La asociación alélica y haplotópica observada de los polimorfismos de nucleótido simple (SNP) 19, 43 y 63 en poblaciones amerindias y algunas europeas confirmar a estos resultados. En esta investigación se postuló que los SNP 19, 43 y 63 del gen CAPN10 estaban asociados a DM2 en la población peruana. Se analizaron 45 pacientes diabéticos y 58 familiares no diabéticos. Además de los factores de riesgo como la obesidad, el ¨índice de masa corporal (IMC), la hipertrigliceridemia (HTG), la hipertensión arterial (HTA) y la hipercolesterolemia (HC), se identificaron ¨Cmediante reacción en cadena de la polimerasa (PCR)¨C los SNP 19, 43 y 63 del CAPN10. Se analizaron los resultados utilizando las pruebas de equilibrio de Hardy-Weinberg y el análisis de regresión logística condicional. Se observó asociación del SNP19 a DM2 (χ2= 8,31; p= 0,01) e IMC, HTG e HC en familias diabéticas peruanas. El aporte de la investigación radica en haber detectado estas asociaciones en la población diabética peruana (AU)
Type 2 diabetes mellitus (T2DM) is genetically defined as a complex diseasecaused by the interaction of environment and genes, which are located in differentregions from the human genome. Calpain 10 (CAPN10) is a susceptibilitygene for the disease, located in 2q37.3. The allelic and haplotypic associationobserved of SNP¡¯s 19, 43 and 63 in Amerindian and some Europeanpopulations would confirm these results.In this research, it has been postulated that SNP¡¯s 19, 43 and 63 of CAPN10gene were associated with T2DM in Peruvian population. It has been analyzed45 diabetic patients and 58 non-diabetic relatives. Among other risk factor forobesity, such body mass index (BMI), hypertriglyceridemia (HTG), arterial hypertension(HTA), and hypercholesterolemia (HC), it has been identified bypolymerase chain reaction (PCR) SNP¡¯s 19, 43 and 63 of CAPN10. The Hardy-Weinberg test and conditional regression logistic were used to analyze theresults.The results showed association of SNP19 with T2DM (¦Ö2= 8.31; p= 0.01)and BMI, HTG, HC in Peruvian diabetic families. The main contribution of thisresearch is having detected these associations in the diabetic Peruvian population(AU)
Subject(s)
Humans , Calpain/genetics , Diabetes Mellitus, Type 2/ethnology , Diabetes Mellitus, Type 2/genetics , Polymorphism, Single Nucleotide/genetics , Risk Factors , Haplotypes/genetics , Polymerase Chain Reaction/methods , Polymerase Chain Reaction , Gene Frequency/geneticsABSTRACT
Description of the Klippel-Trénaunay-Syndrome; it could have been sporadic found in a 3; 6-year-old girl. This congenital anomaly is characterized by haemangiomatosis, varicosis and unilateral hypertrophia of limbs. As a rule the therapy is a symptomatic one, surgical operations concerning the skeleton are infrequent.