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The promise of disease gene discovery in South Asia

Nathan Nakatsuka, Priya Moorjani, Niraj Rai, Biswanath Sarkar, Arti Tandon, Nick Patterson, Gandham SriLakshmi Bhavani, Katta Mohan Girisha, Mohammed S Mustak, Sudha Srinivasan, Amit Kaushik, Saadi Abdul Vahab, Sujatha M. Jagadeesh, Kapaettu Satyamoorthy, Lalji Singh, David Reich, Kumarasamy Thangaraj
doi: https://doi.org/10.1101/047035
Nathan Nakatsuka
1Department of Genetics, Harvard Medical School, New Research Building, 77 Ave. Louis Pasteur, Boston, MA 02115, USA
2Harvard-MIT Division of Health Sciences and Technology, Harvard Medical School, Boston, MA 02115, USA
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Priya Moorjani
3Department of Biological Sciences, Columbia University, 600 Fairchild Center, New York, NY 10027, USA
6Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02141, USA
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Niraj Rai
4CSIR-Centre for Cellular and Molecular Biology, Habsiguda, Hyderabad, Telangana 500007, India
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Biswanath Sarkar
5Superintending Anthropologist (Physical) (Rtd.), Anthropological Survey of India, 27 Jawaharlal Nehru Road, Kolkata 700016, India
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Arti Tandon
1Department of Genetics, Harvard Medical School, New Research Building, 77 Ave. Louis Pasteur, Boston, MA 02115, USA
6Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02141, USA
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Nick Patterson
6Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02141, USA
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Gandham SriLakshmi Bhavani
7Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India
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Katta Mohan Girisha
7Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India
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Mohammed S Mustak
8Department of Applied Zoology, Mangalore University, Mangalagangothri 574199, Mangalore, Karnataka, India
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Sudha Srinivasan
9Centre for Human Genetics, Biotech Park, Electronics City (Phase I), Bangalore 560100, India
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Amit Kaushik
10Amity Institute of Biotechnology, Amity University, Sector125, Noida 201303, India
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Saadi Abdul Vahab
11School of Life Sciences, Manipal University, Manipal 576104, India
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Sujatha M. Jagadeesh
12Fetal Care Research Foundation, 197 Dr. Natesan Road, Chennai 600004, India
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Kapaettu Satyamoorthy
11School of Life Sciences, Manipal University, Manipal 576104, India
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Lalji Singh
4CSIR-Centre for Cellular and Molecular Biology, Habsiguda, Hyderabad, Telangana 500007, India
13Present address: Genome Foundation, Hyderabad 500076, India
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David Reich
1Department of Genetics, Harvard Medical School, New Research Building, 77 Ave. Louis Pasteur, Boston, MA 02115, USA
5Superintending Anthropologist (Physical) (Rtd.), Anthropological Survey of India, 27 Jawaharlal Nehru Road, Kolkata 700016, India
14Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA
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Kumarasamy Thangaraj
4CSIR-Centre for Cellular and Molecular Biology, Habsiguda, Hyderabad, Telangana 500007, India
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Abstract

The more than 1.5 billion people who live in South Asia are correctly viewed not as a single large ethnic group, but as many small endogamous groups. We assembled genome-wide data from over 2,800 individuals from over 275 distinct South Asian groups. We document shared ancestry across groups that correlates with geography, language, and religious affiliation. We characterize the strength of the founder events that gave rise to many of the groups, and identify 14 groups with census sizes of more than a million that descend from founder events significantly stronger than those in Ashkenazi Jews and Finns, both of which have high rates of recessive disease due to founder events. These results highlight a major and under-appreciated opportunity for reducing disease burden among South Asians through the discovery of and testing for recessive disease genes. As a proof-of-principle, we show that it is possible to localize genes for progressive pseudorheumatoid dysplasia and mucopolysaccharidosis type IVA, two recessive diseases prevalent in South India, using the founder event disease gene mapping approach introduced here.

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Posted February 03, 2017.
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The promise of disease gene discovery in South Asia
Nathan Nakatsuka, Priya Moorjani, Niraj Rai, Biswanath Sarkar, Arti Tandon, Nick Patterson, Gandham SriLakshmi Bhavani, Katta Mohan Girisha, Mohammed S Mustak, Sudha Srinivasan, Amit Kaushik, Saadi Abdul Vahab, Sujatha M. Jagadeesh, Kapaettu Satyamoorthy, Lalji Singh, David Reich, Kumarasamy Thangaraj
bioRxiv 047035; doi: https://doi.org/10.1101/047035
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The promise of disease gene discovery in South Asia
Nathan Nakatsuka, Priya Moorjani, Niraj Rai, Biswanath Sarkar, Arti Tandon, Nick Patterson, Gandham SriLakshmi Bhavani, Katta Mohan Girisha, Mohammed S Mustak, Sudha Srinivasan, Amit Kaushik, Saadi Abdul Vahab, Sujatha M. Jagadeesh, Kapaettu Satyamoorthy, Lalji Singh, David Reich, Kumarasamy Thangaraj
bioRxiv 047035; doi: https://doi.org/10.1101/047035

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