Fine-scale population structure and demographic history of British Pakistanis

被引:23
作者
Arciero, Elena [1 ]
Dogra, Sufyan A. [2 ]
Malawsky, Daniel S. [1 ]
Mezzavilla, Massimo [3 ]
Tsismentzoglou, Theofanis [4 ,5 ]
Huang, Qin Qin [1 ]
Hunt, Karen A. [6 ]
Mason, Dan [2 ]
Sharif, Saghira Malik [7 ]
van Heel, David A. [6 ]
Sheridan, Eamonn [5 ]
Wright, John [2 ]
Small, Neil [8 ]
Carmi, Shai [9 ]
Iles, Mark M. [4 ,5 ]
Martin, Hilary C. [1 ]
机构
[1] Wellcome Sanger Inst, Wellcome Genome Campus, Hinxton, England
[2] Bradford Teaching Hosp NHS Fdn Trust, Bradford Inst Hlth Res, Bradford, W Yorkshire, England
[3] Univ Trieste, Dept Med Sci, Trieste, Italy
[4] Univ Leeds, Leeds Inst Data Analyt, Leeds, W Yorkshire, England
[5] Univ Leeds, Leeds Inst Med Res, Leeds, W Yorkshire, England
[6] Queen Mary Univ London, Barts & London Sch Med & Dent, Blizard Inst, London, England
[7] Leeds Teaching Hosp NHS Trust, Yorkshire Reg Genet Serv, Leeds, W Yorkshire, England
[8] Univ Bradford, Fac Hlth Studies, Richmond Rd, Bradford, W Yorkshire, England
[9] Hebrew Univ Jerusalem, Braun Sch Publ Hlth & Community Med, Jerusalem, Israel
关键词
CONSANGUINITY; UK; IDENTITY; DESCENT; DISEASE; RISK; AGRICULTURE; STATISTICS; COMPONENTS; DIVERSITY;
D O I
10.1038/s41467-021-27394-2
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
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 genotype chip data from 2,200 British Pakistanis. We reveal strong recent population structure driven by the biraderi social stratification system. We find that all subgroups have had low recent effective population sizes (N-e), with some showing a decrease 15-20 generations ago that has resulted in extensive identity-by-descent sharing and homozygosity, increasing the risk of recessive disorders. Our results from two orthogonal methods (one using machine learning and the other coalescent-based) suggest that the detailed reporting of parental relatedness for mothers in the cohort under-represents the true levels of consanguinity. These results demonstrate the impact of cultural practices on population structure and genomic diversity in Pakistanis, and have important implications for medical genetic studies. Little is known about the recent population history or the effects of endogamy on the Pakistani population. Here the authors examine the impact of the biraderi social stratification system on the population structure of individuals of British Pakistani ancestry in the Born in Bradford cohort.
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页数:16
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