Lack of selection in ASPM gene haplotype
Some new evidence contradicting previous claims that a particular haplotype of the ASPM gene was selected. We posted about some related work in 2005.
An excerpt:
We also assessed evidence for selection at ASPM by carrying out the long-range haplotype (LRH) test (9). This test assesses whether a haplotype is too young to have risen to its frequency without selection. The LRH test is not affected by uncertainty in recombination rate estimates. We compared LRH results for the A44871G polymorphism to SNPs of matched frequency in HapMap CEU (3, 10) (Fig. 1C). We observed at least as strong a signal for selection at 90% of the regions examined (3, 11). Several genome-wide surveys using similar methods also failed to find evidence for selection at ASPM in European-derived populations (4, 12, 13). The one survey that did find a signal near ASPM did so only in individuals of Chinese ancestry (13), failing to support the contention of (1) of recent selection in European history. Based on linkage disequilibrium (LD) breaking down within ~100 kb on either side (Fig. 1B), we estimate that the G allele arose in European history at least tens of thousands of years ago and possibly more than 100,000 years ago (14) (table S3 and SOM Text). These dates are difficult to reconcile with selection ~6000 years ago, as suggested in (1).