Abstract
Due to the environmental and genetic background, it is known that some diseases show the population-specific tendency. In this study we focused on the genetic background for Middle Eastern population. Cardiovascular diseases are one of major death factors and actually causing a high mortal rate in Middle East such as in Saudi Arabia. We developed a method to detect the SNPs responsible to the diseases in a particular population and apply it to the Middle Eastern population. First, to reveal the genetic background of the diseases in the Middle Eastern population, we integrated a genomic variation database and human health information. Although there are some projects about human genomic variation, we use Human Genome Diversity Project (HGDP) database because they contain genetic variations of the Middle Eastern population. Also, ClinVar provides information about genomic variation and human health. We integrated these two databases. Then, we performed statistical analysis such as Fisher’s exact test to reveal SNPs significantly associated with a population of interest. As an example, we focused on cardiovascular diseases in the Middle Eastern population. We examined allele frequencies of variations and found promising SNPs that are related to genes; CHRNA3, CACNA1C, CACNB2, and MYH6. Interestingly, these genes code for proteins involved in the nicotinic acetylcholine receptor-signaling pathway. They are related to nicotine addiction, which contributes to the development of cardiovascular diseases. Considering higher smoking ratio in Middle East, our results are convincing and our methods worked well. We can apply this method to other populations and diseases for further studies and clinical applications.