Abstract
Background:
Signatures of positive selection in ASPM across human lineage suggest a rich pool of genetic variation. SNPs are one of the most common types of genetic variations and essential for deeper understanding of population differentiation.
Subjects and Methods:
Taking the advantages of 1000 genome project data, we extensively analyzed a population based SNPs of ASPM gene among geographically distinct populations for understanding genographic similarities and differences using various methods of population genetics and statistics.
Results
Analysis of the common (MAF>0.05) SNPs among four major population (AF, EA, SA and EU) comprised of sixteen subpopulation from 1000 Genomes data showed different pattern of variation in ASPM gene. We also found population specific SNPs significantly present in one population with a MAF greater than 0.05 and absent in other suggesting that ASPM is possibly under selection resulting variations among populations. Fst detected lowest distance between SA and EU with a mean value of 0.014534, whereas EA and EU measured an estimated mean Fst of 0.12402. Surprisingly, the HWE test resulted five significant SNPs (rs6700180, rs10922163, rs10801589, rs10754216, rs3737111) shared among SA and EU with similar p-value (<0.05). The Tajima’s D test showed mid-region of ASPM with significant value especially from 197070 kbp to 197090 kbp suggesting enriched region with possible selective pressure. Venn analysis identified that 11 SNPs were shared in all the population. AF population acquired 135 variations that are specific to them. In African YRI subpopulation 45 SNPs found to be specific, and in EU subpopulations 48 SNPs were shared by TSI,