RESUMO
AIM: The ectonucleotide pyrophosphatase/phosphodiesterase 1 enzyme (ENPP1), which downregulates insulin signaling by inhibiting insulin-receptor tyrosine kinase activity, is encoded by the ENPP1 gene. A common functional ENPP1 K121Q polymorphism has been suggested to contribute to insulin resistance, obesity and type 2 diabetes (T2D) in various ethnic groups. For this reason, we assessed the association between the ENPP1 K121Q polymorphism in T2D and obesity phenotypes in the Moroccan population. METHODS: Using LightCycler((R)) technology, we genotyped the ENPP1 K121Q polymorphism in 503 subjects with T2D and 412 normoglycaemic individuals. RESULTS: There was no evidence of an association between ENPP1 K121Q and T2D in either an additive (P=0.99) or recessive mode of inheritance (P=0.47). However, the Q121 variant was significantly more frequent in obese than in non-obese subjects after adjusting for age, gender and T2D status. We observed genetic heterogeneity between obese and non-obese T2D patients (P=0.02). The K121Q polymorphism was associated with T2D in the presence of obesity in both additive (1.55 [95% CI 1.16-2.07]; P=0.003) and recessive (2.31 [95% CI 1.34-3.97]; P=0.002) modes of inheritance. CONCLUSION: Although there was no evidence of an association between the ENPP1 K121Q variant and the general phenotype of T2D, we did find an association with adult obesity and T2D. The Q121 allele frequency in Morocco is 37.3%, placing it between European Caucasians (15%) and Black Africans (79%). This study is the first to report an association between K121Q and metabolic diseases in the Moroccan population.
Assuntos
Substituição de Aminoácidos , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/genética , Obesidade/genética , Diester Fosfórico Hidrolases/genética , Polimorfismo Genético , Pirofosfatases/genética , Adulto , Idoso , Glicemia/metabolismo , Estudos de Casos e Controles , Mapeamento Cromossômico , Cromossomos Humanos Par 6 , Diabetes Mellitus Tipo 2/sangue , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Marrocos , Relação Cintura-QuadrilRESUMO
We studied the relationship between erectile dysfunction (ED) and diabetes among 189 men (> 40 years) attending primary health care centres in Morocco. Of the 89 diabetic men, 82% had ED while only 17% of the 100 non-diabetic men had ED. The frequency of ED among diabetic men increased with age, from 60% in those aged 40-49 years to 94.95% in those aged > or = 60 years (from 6.3% to 35.4% in men without diabetes for similar ages). ED was reported by 93.3% of diabetic men who had had diabetes for > 15 years. The frequency of ED did not differ with type of diabetes but it was significantly commoner in diabetic men with a low level of education and with hypertension.
Assuntos
Diabetes Mellitus Tipo 1 , Diabetes Mellitus Tipo 2 , Disfunção Erétil , Pacientes Ambulatoriais/estatística & dados numéricos , Adulto , Distribuição por Idade , Consumo de Bebidas Alcoólicas/efeitos adversos , Consumo de Bebidas Alcoólicas/epidemiologia , Estudos de Casos e Controles , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/epidemiologia , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/epidemiologia , Escolaridade , Disfunção Erétil/epidemiologia , Disfunção Erétil/etiologia , Exercício Físico , Humanos , Hiperlipidemias/complicações , Hiperlipidemias/epidemiologia , Hipertensão/complicações , Hipertensão/epidemiologia , Masculino , Pessoa de Meia-Idade , Marrocos/epidemiologia , Obesidade/complicações , Obesidade/epidemiologia , Vigilância da População , Prevalência , Neoplasias da Próstata/complicações , Neoplasias da Próstata/epidemiologia , Fatores de Risco , Índice de Gravidade de Doença , Fumar/efeitos adversos , Fumar/epidemiologiaRESUMO
AIMS: Recent genome-wide association studies (GWAS) and previous approaches have identified many genetic variants associated with type 2 diabetes (T2D) in populations of European descent, but their contribution in Arab populations from North Africa is unknown. Our study aimed to validate these markers and to assess their combined effects, using large case-control studies of Moroccan and Tunisian individuals. METHODS: Overall, 44 polymorphisms, located at 37 validated European loci, were first analyzed in 1055 normoglycaemic controls and 1193 T2D cases from Morocco. Associations and trends were then assessed in 942 normoglycaemic controls and 1446 T2D cases from Tunisia. Finally, their ability to discriminate cases from controls was evaluated. RESULTS: Carrying a genetic variant in BCL11A, ADAMTS9, IGF2BP2, WFS1, CDKAL1, TP53INP1, CDKN2A/B, TCF7L2, KCNQ1, HNF1A, FTO, MC4R and GCK increased the risk of T2D when assessing the Moroccan and Tunisian samples together. Each additional risk allele increased the susceptibility for developing the disease by 12% (P = 9.0 × 10(-9)). Genotype information for 13 polymorphisms slightly improved the classification of North Africans with and without T2D, as assessed by clinical parameters, with an increase in the area under the receiver operating characteristic curve from 0.64 to 0.67 (P = 0.004). CONCLUSION: In addition to TCF7L2, 12 additional loci were found to be shared between Europeans and North African Arabs. As for Europeans, the reliability of genetic testing based on these markers to determine the risk for T2D is low. More genome-wide studies, including next-generation sequencing, in North African populations are needed to identify the genetic variants responsible for ethnic disparities in T2D susceptibility.
Assuntos
Árabes/genética , Diabetes Mellitus Tipo 2/etnologia , Diabetes Mellitus Tipo 2/genética , Polimorfismo de Nucleotídeo Único , Proteína 2 Semelhante ao Fator 7 de Transcrição/genética , Adulto , Alelos , Árabes/estatística & dados numéricos , Estudos de Casos e Controles , Diabetes Mellitus Tipo 2/epidemiologia , Dieta , Feminino , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Marrocos/epidemiologia , Razão de Chances , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Comportamento Sedentário , Tunísia/epidemiologiaRESUMO
إن مضاعفات التشيخ الناجمة عن السكري تفرض عبئاً مرضياً ثقيلاً وزيادة في معدل الوفيات. وتقدم هذه الدراسة لمحات وبائية وسريرية عن مرضى السكري في دراسة الأتراب EpiDiaM والتي تشمل 1196 حالة سكري تم اختيارهم من قبل شبكة الرعاية الصحية الأساسية في مدينة فاس. لقد كان متوسط عمر المشاركين 57.5 [SD 10.4]سنة، 47.1% منهم تتراوح أعمارهم بين 50 و 60 عاماً. وكانت الغالبية [77.7%]من النساء. وكان متوسط مدة السكري 8 [SD 6.6]سنوات. وكان ارتفاع ضغط الدم موجوداً لدى 49.3% من الأتراب، وكان 77.9% منهم لديهم وزن زائد أو سمنة، كما عانى 63.8% منهم من واحدة أو أكثر من المضاعفات. ومن بين الذين لديهم مضاعفات كان اعتلال الشبكية هو الأكثر شيوعاً [69.4%]، تليه أمراض القلب [50.8%]واعتلال الأعصاب [45.6%]ومرض الكلى [4.8%]. إن ارتفاع معدل انتشار المضاعفات يؤكد على ضرورة معالجة عوامل الخطورة التي يمكن تفاديها والحيلولة دون حدوث المضاعفات
Le diabète est une maladie à lourde charge de morbidité et de mortalité liées aux complicationsdégénératives. La présente étude présente le profil épidémiologique et clinique des patients diabétiques inclus dans l’étude de cohorte « EpiDiaM », qui portait sur 1196 cas recrutés au niveau du réseau de soins de santé de base de la ville de Fès. L’âge moyen des participants était de 57,5 (ET 10,4) ans. Dans 47,1 % des cas, les patients étaient âgés entre 50 et 60 ans. La majorité (77,7 %) était des femmes. L’ancienneté moyenne du diabète était de 8 (ET 6,6) ans. L’hypertension était présente chez 49,3 % des patients alors que 77,9 % étaient en surpoids ouobèses ; 63,8 % des patients souffraient de complications. Chez ces derniers, la rétinopathie était la complication la plus fréquente (69,4 %), suivie par la cardiopathie (50,8 %), la neuropathie (45,6 %) et la néphropathie (4,8 %).La forte prévalence des complications souligne la nécessité d’agir sur les facteurs de risque évitables et de prévenir les complications.
Degenerative complications as a result of diabetes impose a heavy disease burden and increase mortality. This study presents epidemiological and clinical profiles of diabetic patients in the EpiDiaM cohort study, which include 1196 diabetic cases recruited from the basic health care network in the city of Fez. Themean age of the participants was 57.5 (SD 10.4) years with 47.1% aged between 50 and 60 years. The majority (77.7%) were women. The mean duration of diabetes was 8 (SD 6.6) years. Hypertension was found in 49.3% of the cohort, 77.9% were overweight or obese and 63.8% had one or more complications. Among those withcomplications, retinopathy was the most common (69.4%), followed by heart conditions (50.8%), neuropathy (45.6%) and renal disease (4.8 %). The high prevalence of complications emphasizes the need to address the avoidable risk factors and prevent complications.
Assuntos
Diabetes Mellitus Tipo 2 , Fatores Epidemiológicos , Estudos de CoortesRESUMO
الأطروحة في الطب هي عمل علمي يتيح لطالب الطب اكتساب درجة دكتور في الطب، لذا يوصى بأن تكون الأطروحات التي يقدمها الطلاب ملبية للمعايير المنهجية الأساسية للحصول على نتائج وتوصيات موثوقة علميا. وتهدف هذه الدراسة إلى تقييم المنهجيات في الأطروحات المقدمة لكلية الطب في فاس في عام 2008 . وقد أعد الباحثون جدولا تقييميا يتضمن أسئلة حول الأقسام المختلفة لبنية الأطروحة:[المقدمة، والطرق، والبحوث، والمناقشة]التي كانت الأطروحات قد استندت إليها، وقدروا النسب المئوية للأطروحات التي تتماشى مع كل معيار. وقد شملت الدراسة 160 أطروحة حول مختلف الاختصاصات، عرضت عام 2008، واتضح أن معظم الأطروحات [79.3 %]كانت عن سلسلة حالات، وكان السؤال الذي يدور البحث حوله مطروحا بوضوح في 62% من الأطروحات، إلا أن الأهداف الأولية لم تكن وثيقة الصلة إلا في 52 % من الأطروحات. وتوضح هذه الدراسة أن هناك مواطن قصور هامة في سامة المنهجيات المتبعة لإعداد الأطروحات، وأن قلة قليلة جدا من الأطروحات قد نشرت
RÉSUMÉ La thèse de médecine est un travail scientifique permettant l’obtention du diplôme de Docteur en médecine. Il est donc recommandé que les thèses présentées par les étudiants remplissent des critères méthodologiques essentiels pour que les résultats et recommandations soient scientifiquement crédibles. L’objectif de ce travail était d’évaluer la qualité méthodologique des thèses soutenues à la Faculté de Médecine de Fès en 2008. Une grille d’évaluation a été élaborée à partir de la littérature. Elle contient des questions sur les différentes sections de la structure IMRED sur laquelle étaient basées ces thèses. Nous avons estimé la proportion de thèses conformes aux critères de la grille. Il y a eu 160 thèses soutenues dans diverses spécialités en 2008. La majorité des thèses (79,3 %) concernait des séries de cas. La question de recherche a été clairement formulée dans 62,0 % des travaux mais l’objectif principal a été jugé pertinent dans seulement 52,0 % des thèses. Notre étude montre d’importantes insuffisances dans la rigueur méthodologique et une très faible représentation de ces thèses dans les publications.
A thesis in medicine is a scientific work which allows a medical student to acquire a Doctor of Medicine degree. It is therefore recommended that theses presented by students fulfill essential methodological criteria in order to obtain scientifically credible results and recommendations. The aim of this study was to assess the methodology of thesis presented to the Faculty of Medicine in Fez in 2008. We developed an evaluation table containing questions on the different sections of the IMRAD structure on which these theses were based and we estimated the proportion of theses that conformed to each criterion. There were 160 theses on various specialties presented in 2008. The majority of the theses (79.3%) were case series. Research questions were clearly expressed in 62.0% but the primary objectives were pertinent in only 52.0%. Our study shows that there were important deficiencies in the methodological rigor of the theses and very little representation of the theses in publications.
Assuntos
Dissertações Acadêmicas como Assunto , Métodos , Docentes de MedicinaRESUMO
We studied the relationship between erectile dysfunction [ED] and diabetes among 189 men [> 40 years] attending primary health care centres in Morocco. Of the 89 diabetic men, 82% had ED while only 17% of the 100 non-diabetic men had ED. The frequency of ED among diabetic men increased with age, from 60% in those aged 40-49 years to 94.95% in those aged >/= 60 years [from 6.3% to 35.4% in men without diabetes for similar ages]. ED was reported by 93.3% of diabetic men who had had diabetes for > 15 years. The frequency of ED did not differ with type of diabetes but it was significantly commoner in diabetic men with a low level of education and with hypertension