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Identification of a single nucleotide polymorphism indicative of high risk in acute myocardial infarction.
Shalia, Kavita; Saranath, Dhananjaya; Rayar, Jaipreet; Shah, Vinod K; Mashru, Manoj R; Soneji, Surendra L.
Afiliación
  • Shalia K; Sir H. N. Medical Research Society, Sir H. N. Hospital & Research Centre, Mumbai, India.
  • Saranath D; Department of Molecular Medicine, Reliance Life Sciences Pvt. Ltd., Dhirubhai Ambani Life Sciences Centre, Navi Mumbai, India.
  • Rayar J; Department of Molecular Medicine, Reliance Life Sciences Pvt. Ltd., Dhirubhai Ambani Life Sciences Centre, Navi Mumbai, India.
  • Shah VK; Department of Cardiology, Sir H. N. Hospital & Research Centre, Mumbai, India.
  • Mashru MR; Department of Cardiology, Sir H. N. Hospital & Research Centre, Mumbai, India.
  • Soneji SL; Department of Cardiology, Sir H. N. Hospital & Research Centre, Mumbai, India.
Indian J Med Res ; 146(4): 505-513, 2017 10.
Article en En | MEDLINE | ID: mdl-29434065
Background & objectives: Acute myocardial infarction (AMI) is a major health concern in India. The aim of the study was to identify single nucleotide polymorphisms (SNPs) associated with AMI in patients using dedicated chip and validating the identified SNPs on custom-designed chips using high-throughput microarray analysis. Methods: In pilot phase, 48 AMI patients and 48 healthy controls were screened for SNPs using human CVD55K BeadChip with 48,472 SNP probes on Illumina high-throughput microarray platform. The identified SNPs were validated by genotyping additional 160 patients and 179 controls using custom-made Illumina VeraCode GoldenGate Genotyping Assay. Analysis was carried out using PLINK software. Results: From the pilot phase, 98 SNPs present on 94 genes were identified with increased risk of AMI (odds ratio of 1.84-8.85, P=0.04861-0.003337). Five of these SNPs demonstrated association with AMI in the validation phase (P=0.05). Among these, one SNP rs9978223 on interferon gamma receptor 2 [IFNGR2, interferon (IFN)-gamma transducer 1] gene showed a significant association (P=0.00021) with AMI below Bonferroni corrected P value (P=0.00061). IFNGR2 is the second subunit of the receptor for IFN-gamma, an important cytokine in inflammatory reactions. Interpretation & conclusions: The study identified an SNP rs9978223 on IFNGR2 gene, associated with increased risk in AMI patient from India.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Receptores de Interferón / Polimorfismo de Nucleótido Simple / Estudios de Asociación Genética / Infarto del Miocardio Tipo de estudio: Diagnostic_studies / Etiology_studies / Risk_factors_studies Límite: Aged / Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Indian J Med Res Año: 2017 Tipo del documento: Article País de afiliación: India Pais de publicación: India
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Receptores de Interferón / Polimorfismo de Nucleótido Simple / Estudios de Asociación Genética / Infarto del Miocardio Tipo de estudio: Diagnostic_studies / Etiology_studies / Risk_factors_studies Límite: Aged / Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Indian J Med Res Año: 2017 Tipo del documento: Article País de afiliación: India Pais de publicación: India