RT Journal Article
SR Electronic
T1 Fine-scale population structure and demographic history of British Pakistanis
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 2020.09.02.279190
DO 10.1101/2020.09.02.279190
A1 Elena Arciero
A1 Sufyan A. Dogra
A1 Massimo Mezzavilla
A1 Theofanis Tsismentzoglou
A1 Qin Qin Huang
A1 Karen A. Hunt
A1 Dan Mason
A1 David A. van Heel
A1 Eamonn Sheridan
A1 John Wright
A1 Neil Small
A1 Shai Carmi
A1 Mark M. Iles
A1 Hilary C. Martin
YR 2020
UL http://biorxiv.org/content/early/2020/09/03/2020.09.02.279190.abstract
AB Previous genetic and public health research in the Pakistani population has focused on the role of consanguinity in increasing recessive disease risk, but little is known about its recent population history or the effects of endogamy. Here, we investigate fine-scale population structure, history and consanguinity patterns using genetic and questionnaire data from >4,000 British Pakistani individuals, mostly with roots in Azad Kashmir and Punjab. We reveal strong recent population structure driven by the biraderi social stratification system. We find that all subgroups have had low effective population sizes (Ne) over the last 50 generations, with some showing a decrease in Ne 15-20 generations ago that has resulted in extensive identity-by-descent sharing and increased homozygosity. Using new theory, we show that the footprint of regions of homozygosity in the two largest subgroups is about twice that expected naively based on the self-reported consanguinity rates and the inferred historical Ne trajectory. These results demonstrate the impact of the cultural practices of endogamy and consanguinity on population structure and genomic diversity in British Pakistanis, and have important implications for medical genetic studies.Competing Interest StatementThe authors have declared no competing interest.