RESUMEN
OBJECTIVE: To examine variants at the 9p21 locus in a case-control study of acute myocardial infarction (MI) in Pakistanis and to perform an updated meta-analysis of published studies in people of European ancestry. METHODS AND RESULTS: A total of 1851 patients with first-ever confirmed MI and 1903 controls were genotyped for 89 tagging single-nucleotide polymorphisms at locus 9p21, including the lead variant (rs1333049) identified by the Wellcome Trust Case Control Consortium. Minor allele frequencies and extent of linkage disequilibrium observed in Pakistanis were broadly similar to those seen in Europeans. In the Pakistani study, 6 variants were associated with MI (P<10(-2)) in the initial sample set, and in an additional 741 cases and 674 controls in whom further genotyping was performed for these variants. For Pakistanis, the odds ratio for MI was 1.13 (95% CI, 1.05 to 1.22; P=2 x 10(-3)) for each copy of the C allele at rs1333049. In comparison, a meta-analysis of studies in Europeans yielded an odds ratio of 1.31 (95% CI, 1.26 to 1.37) for the same variant (P=1 x 10(-3) for heterogeneity). Meta-analyses of 23 variants, in up to 38,250 cases and 84,820 controls generally yielded higher values in Europeans than in Pakistanis. CONCLUSIONS: To our knowledge, this study provides the first demonstration that variants at the 9p21 locus are significantly associated with MI risk in Pakistanis. However, association signals at this locus were weaker in Pakistanis than those in European studies.
Asunto(s)
Pueblo Asiatico/genética , Cromosomas Humanos Par 9 , Infarto del Miocardio/genética , Polimorfismo de Nucleótido Simple , Población Blanca/genética , Estudios de Casos y Controles , Europa (Continente) , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Humanos , Desequilibrio de Ligamiento , Modelos Logísticos , Masculino , Persona de Mediana Edad , Infarto del Miocardio/etnología , Oportunidad Relativa , Pakistán , Fenotipo , Medición de Riesgo , Factores de RiesgoRESUMEN
BACKGROUND: Heart Failure (HF) is a common disease with a high mortality rate. Anaemia and renal failure (RF) are often present in patients with HF and associated with worse prognosis. Objective of study was to evaluate the prevalence of anaemia and RF in patients with HF. METHODS: Patients admitted in Punjab institute of cardiology Lahore with diagnosis of heart failure were enrolled from February, 2008 to December, 2008. Anaemia was defined as haemoglobin levels < 13 mg/dl for men and 12 mg/dl for women. Renal function was assessed by the glomerular filtration rate (GFR), calculated by the simplified formula of the MDRD (Modification of Diet in Renal Disease) study. RESULTS: Of the 276 patients included in this study, 42.03% (116) had anaemia and 38.40% (106) had moderate to severe renal failure (GFR < 60 ml/min). CONCLUSION: The prevalence of anaemia and renal failure was high in this population and was associated with the severity of the HF (functional classes III and IV).
Asunto(s)
Anemia/epidemiología , Insuficiencia Cardíaca/complicaciones , Insuficiencia Renal/epidemiología , Anemia/complicaciones , Estudios Transversales , Femenino , Tasa de Filtración Glomerular , Insuficiencia Cardíaca/epidemiología , Humanos , Masculino , Persona de Mediana Edad , Pakistán/epidemiología , Prevalencia , Pronóstico , Insuficiencia Renal/complicacionesRESUMEN
The burden of coronary heart disease (CHD) is increasing at a greater rate in South Asia than in any other region globally, but there is little direct evidence about its determinants. The Pakistan Risk of Myocardial Infarction Study (PROMIS) is an epidemiological resource to enable reliable study of genetic, lifestyle and other determinants of CHD in South Asia. By March 2009, PROMIS had recruited over 5,000 cases of first-ever confirmed acute myocardial infarction (MI) and over 5,000 matched controls aged 30-80 years. For each participant, information has been recorded on demographic factors, lifestyle, medical and family history, anthropometry, and a 12-lead electrocardiogram. A range of biological samples has been collected and stored, including DNA, plasma, serum and whole blood. During its next stage, the study aims to expand recruitment to achieve a total of about 20,000 cases and about 20,000 controls, and, in subsets of participants, to enrich the resource by collection of monocytes, establishment of lymphoblastoid cell lines, and by resurveying participants. Measurements in progress include profiling of candidate biochemical factors, assay of 45,000 variants in 2,100 candidate genes, and a genomewide association scan of over 650,000 genetic markers. We have established a large epidemiological resource for CHD in South Asia. In parallel with its further expansion and enrichment, the PROMIS resource will be systematically harvested to help identify and evaluate genetic and other determinants of MI in South Asia. Findings from this study should advance scientific understanding and inform regionally appropriate disease prevention and control strategies.