Natural selection and the molecular basis of electrophoretic variation at the coagulation F13B locus.

European Journal of Human Genetics : EJHG
Anthony W RyanMark Stoneking

Abstract

Electrophoretic analysis of protein variation at the coagulation F13B locus has previously revealed three alleles, with alleles 1, 2, and 3 each being at high frequency in European, African, and Asian populations, respectively. To determine if this unusual pattern of interpopulation differentiation reflects local natural selection or neutral genetic drift, we re-sequenced 4.6 kb of the gene, encompassing all exons, splice junctions, and 1.4 kb of the promoter, in African, European, and Asian samples. These analyses revealed three major lineages, which correspond to the common protein alleles and differ from each other at a non-synonymous substitution in exon 3 and a novel splice acceptor in intron K. There is previous evidence that these lineages are not functionally equivalent; we therefore carried out case-control analyses and confirmed that variability at F13B modulates susceptibility and/or survivorship in coronary artery disease (P<0.05) and type II diabetes within the coronary artery disease cohort (P<0.01). Tajima's D and Fu and Li's tests did not indicate significant departures from neutral expectations. However, publicly available data from SeattleSNPs and HapMap do indicate highly unusual levels of population differen...Continue Reading

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Citations

May 7, 2010·Proceedings of the National Academy of Sciences of the United States of America·Peter J RichersonJoseph Henrich
Jan 9, 2015·International Journal of Molecular Sciences·Zoltán A MezeiLászló Muszbek
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Jan 30, 2010·Blood·Jonas EmsleyDavid Gailani
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