<p><b>AIM: </b>Adverse drug reactions to 5-Fluorouracil(5-FU) is frequent and largely attributable to genetic variations in the DPYD gene, a rate limiting enzyme that clears 5-FU. The study aims at understanding the pharmacogenetic landscape of DPYD variants in south Asian populations.</p><p><b>MATERIALS & METHODS: </b>Systematic analysis of population scale genome wide datasets of over 3000 south Asians was performed. Independent evaluation was performed in a small cohort of patients.</p><p><b>RESULTS: </b>Our analysis revealed significant differences in the the allelic distribution of variants in different ethnicities.</p><p><b>CONCLUSIONS: </b>This is the first and largest genetic map the DPYD variants associated with adverse drug reaction to 5-FU in south Asian population. Our study highlights ethnic differences in allelic frequencies.</p>
J. M. Hariprakash, Vellarikkal, S. K., Keechilat, P., Verma, A., Jayarajan, R., Dixit, V., Ravi, R., Senthivel, V., Kumar, A., Sehgal, P., Sonakar, A. K., Ambawat, S., Giri, A. K., Philip, A., Sivadas, A., Faruq, M., Bharadwaj, D., Sivasubbu, S., and Scaria, V., “Pharmacogenetic landscape of DPYD variants in south Asian populations by integration of genome-scale data.”, Pharmacogenomics, vol. 19, no. 3, pp. 227-241, 2018.