Alarming findings about genomics of sudden cardiac arrest in India

...Mol Cytogenet Mol Cytogenet Molecular Cytogenetics 1755-8166 BioMed Central 4042503 1755-8166-7-S1-P102 10.1186/1755-8166-7-S1-P102 Poster Presentation Alarming findings about genomics of sudden cardiac arrest in India Mankad Pankaj 1 pankaj.mankad@tiscali.co.uk Balan Srisanth 1 Mohammed Saleem 1 1 Xcode Life Sciences, Chennai, 600 034, Tamil Nadu, India 2014 21 1 2014 7 Suppl 1 Proceedings of the International Conference on Human Genetics and 39th Annual Meeting of Indian Society of Human Genetics The conference and publication charges for this supplement were funded through the co-sponsorship of the Government of Gjarat Department of Science and Technology, Genzyme and Zydus Cadila. Genzyme and Zydus Cadila were not involved in the selection of abstracts. P102 P102 Copyright 2014 Mankad et al; licensee BioMed Central Ltd. 2014 Mankad et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/2.0 ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/ ) applies to the data made available in this article, unless otherwise stated. 23-25 January 2013 International Conference on Human Genetics and 39th Annual Meeting of the Indian Society of Human Genetics (ISHG) Ahmadabad, India Background Over 10% of total deaths and 50% of cardiac deaths in India are Sudden Cardiac Deaths (SCA) and occur at a young age of 5-8 years. We analysed risk allele plus genotype frequencies and polymorphism associations of 38 SNPs, confirmed in GWAS studies that increasing the risk of SCA in 124 random people in the general population. The data were compared with Caucasians reported in HapMap (n = 113). Material and methods Following DNA extraction from saliva, genotyping was performed using Illumina golden gate genotyping assay. Allele and genotype frequencies were determined by direct gene count method. Results Population Genomics indicated Odds Ratio of risk alleles as 1.62 (1.31 -1.92). The carrier rate of risk allele frequency was significantly higher (p = 0.037 to p = 9.18E-37) in Indians compared to Caucasians in 56% of SNPs in H-W equilibrium (15 of 27).6 SNPs showed statistically insignificant comparatively lower risk allele frequency in Indians. Mean increase in higher risk allele frequency SNPs was 2.4 fold (1.1 6.7). Frequency in Indians, for the two SNPs with the strongest SCD risk correlate in the gene BAZ2B was 2 times (rs4665058) and 6 times (rs 174230) greater than in Caucasians. Personalized Genomics indicated that even the frequency of risk homozygous genotype, resulting in the SCA threat in affected individuals being the square of the risk allele hazard, was markedly different with 4.7% Caucasians carrying homozygous risk genotype versus 10.6% of Indians (p<.0001). In 18 (out of 38) SNPs studied, the homozygous genotype difference in Indians was more than double). Although interplay of gene-gene interaction in individualized risk prediction is still undefined, 59% (73 of 124) people carried between 10 to 19 risk alleles and 41% (51 of 124) had between 20 to 30 risk alleles (median 19, range 10 -25), of the total maximum of 76. Conclusions This is the first report, highlighting extremely high genomic propensity for Sudden Cardiac Arrest in Indians compared to the Caucasians. In

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