RESUMO
Orofacial clefts are common developmental disorders that pose significant clinical, economical and psychological problems. We conducted genome-wide association analyses for cleft palate only (CPO) and cleft lip with or without palate (CL/P) with ~17 million markers in sub-Saharan Africans. After replication and combined analyses, we identified novel loci for CPO at or near genome-wide significance on chromosomes 2 (near CTNNA2) and 19 (near SULT2A1). In situ hybridization of Sult2a1 in mice showed expression of SULT2A1 in mesenchymal cells in palate, palatal rugae and palatal epithelium in the fused palate. The previously reported 8q24 was the most significant locus for CL/P in our study, and we replicated several previously reported loci including PAX7 and VAX1.
Assuntos
População Negra/genética , Fissura Palatina/genética , Genética Populacional , Genoma Humano , Genômica , Locos de Características Quantitativas , Alelos , Animais , Mapeamento Cromossômico , Modelos Animais de Doenças , Elementos Facilitadores Genéticos , Feminino , Expressão Gênica , Frequência do Gene , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Genômica/métodos , Genótipo , Humanos , Masculino , Camundongos , Razão de Chances , Polimorfismo de Nucleotídeo ÚnicoRESUMO
BACKGROUND: Metabolic Syndrome (MetS) is a clump of risk factors for development of type 2 diabetes mellitus and cardiovascular diseases. Menopause and age are thought to predispose women to the development of metabolic syndrome. This study aimed to estimate the prevalence of MetS and identify its predominant components among pre-and postmenopausal women in the Kumasi Metropolis, Ghana.Two hundred and fifty (250) Ghanaian women were randomly selected for the study. They were evaluated for the prevalence of metabolic syndrome using the World Health Organization (WHO), National Cholesterol Education Program Adult Treatment Panel III (NCEP ATP III), International Diabetes Federation (IDF) and Harmonization (H_MS) criteria. RESULTS: Out of the total subjects, 143 (57.2%) were premenopausal and 107 (42.8%) menopausal. The study population was between the ages of 20-78 years. The overall percentage prevalence of MetS were 14.4%, 25.6%, 29.2% and 30.4% according to the WHO, NCEP-ATP III, IDF and H_MS criteria, respectively. The prevalence was found to increase with age, irrespective of criterion used. Generally, MetS was significantly higher among postmenopausal women (p < 0.05 by all criteria) compared to their premenopausal cohort, but with marked inter-criteria variations. Abdominal obesity, blood pressure, fasting blood glucose, triglyceride, very low density lipoprotein cholesterol, and triglyceride-high density lipoprotein cholesterol ratio were significantly (p < 0.05) different among the two groups of women.Central obesity, higher blood pressure and raised fasting blood glucose were the predominant components that contributed to the syndrome in Ghanaian women. CONCLUSION: The higher prevalence of the metabolic syndrome in postmenopausal women is an indication that they are at risk of developing cardiovascular disease and type 2 diabetes. Therefore women in that group should be monitored for the two conditions and also be advised to adopt healthy lifestyles to minimize the incidence of these conditions.
