RESUMEN
Of 1050 Mauritanian blood donors screened from the two main racial groups, i.e., the Moors and Black Africans, 60 were found to carry Hb S [ß6(A3)GluâVal, GAG>GTG], giving a global frequency of 5.71%. The prevalence observed in the Black African Mauritanians (10.69%) is almost five times that found in the Moor group (2.25%). Four of the five main ß(S) haplotypes were detected in this study: Senegal (77.8%), Benin (8.8%), Arab-Indian (5.5%) and Bantu (4.4%). These data showed that Hb S is a serious public health problem in Mauritania. They also confirm the ethnic heterogeneity of the Mauritanian population.
Asunto(s)
Haplotipos , Hemoglobina Falciforme/genética , Familia de Multigenes/genética , Globinas beta/genética , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Masculino , MauritaniaRESUMEN
AIMS: Many genetic association studies reported the contribution of KCNJ11 gene to type 2 diabetes susceptibility in different populations. We aimed to evaluate the association between E23K variant of KCNJ11 and type 2 diabetes in the Mauritanian population. MATERIALS AND METHODS: We performed a case-control association study including 135 type 2 diabetes Mauritanian patients and 135 controls. Genotyping for the E23K variant was performed using a TaqMan allelic discrimination assay. RESULTS: We found significant association between KCNJ11 E23K variant and type 2 diabetes (Global model, OR=2.08, 95% CI=1.09-3.97, p=0.026). In the Moor ethnic group, E23K was also associated with type 2 diabetes in the general model (OR=2.08, 95% CI=1.09-3.97, p=0.026) and under the dominant model (OR=2.49, 95% CI=1.12-5.55, p=0.026). In the Mauritanians of African descent, KK genotype was not found. Besides, E23K variant was not associated with type 2 diabetes (OR=0.69, 95% CI=0.04-11.32, p=0.793). CONCLUSIONS: Our results revealed the risk of type 2 diabetes conferred by KCNJ11 E23K gene variant in the Mauritanian population.
Asunto(s)
Diabetes Mellitus Tipo 2/genética , Polimorfismo de Nucleótido Simple , Canales de Potasio de Rectificación Interna/genética , Adulto , Estudios de Casos y Controles , Diabetes Mellitus Tipo 2/diagnóstico , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Pruebas Genéticas , Humanos , Modelos Logísticos , Masculino , Mauritania , Persona de Mediana Edad , Análisis Multivariante , Oportunidad Relativa , Fenotipo , Factores de RiesgoRESUMEN
AIM: We estimated the prevalence of undiagnosed diabetes, analyzed the influence of family history on the occurrence of T2D and evaluated its aggregation pattern in the Mauritanian population. METHODS: The prevalence of unknown diabetes was obtained using data compiled from 1278 Mauritanian adults applying a questionnaire and fasting serum glucose tests. Detailed family history of diabetes and clinical characteristics were gathered from 421 T2D patients. RESULTS: The prevalence of undiagnosed diabetes was 4.7 ± 1.2% in the studied population (3.1% in men and 6.4% in women). 27% of T2D patients reported at least one relative with diabetes. Association between family history and diabetes was higher among first degree compared to second degree relatives (p=0.003). We observed more probands with an affected mother than those who have a father with diabetes (p = 0.002), suggesting a preferential maternal effect which did not extend to second degree relatives. CONCLUSIONS: These results show that the prevalence of diabetes in the Mauritanian population could be higher than currently thought. Family history screening may be used in the management of this condition in Mauritania.