Skip to main content Accessibility help
×
Hostname: page-component-848d4c4894-mwx4w Total loading time: 0 Render date: 2024-07-04T20:56:41.330Z Has data issue: false hasContentIssue false

21 - Population stratification and its implications: lessons from genome-wide studies

from Part V - Population genetics and personalized medicine

Published online by Cambridge University Press:  18 December 2015

Sheikh Nizamuddin
Affiliation:
CSIR-Centre for Cellular and Molecular Biology
Rakesh Tamang
Affiliation:
University of Calcutta
Kumarasamy Thangaraj
Affiliation:
Evolutionary and Medical Genetics Laboratory
Krishnarao Appasani
Affiliation:
GeneExpression Systems, Inc., Massachusetts
Stephen W. Scherer
Affiliation:
University of Toronto
Peter M. Visscher
Affiliation:
University of Queensland
Get access

Summary

Introduction

It is a well-established fact that the anatomically modern human originated in Africa about 200 thousand years ago (KYA) and migrated out-of-Africa about 60–70 KYA. In this process, several populations arose and each of them has their own evolutionary history. Genetic drift, endogamy practices, admixture, and natural selection are examples of a few evolutionary phenomena leading to genetic diversity among populations around the world including susceptibility and resistance to genetic diseases, infectious diseases, therapeutic response to drugs, etc. Understanding these phenomena is much more relevant in a country like India, which has the richest ethnic, cultural, linguistic, and social diversity in the world and harbors 4635 anthropologically well-defined populations, among which 532 are tribes, including 72 primitive tribes (36 hunters and gatherers). In simple terms, there are populations in India who are phenotypically similar to Africans (Andamanese), some are similar to Europeans, some are similar to southeast Asians, and some are not related to any populations outside India. Most interestingly, Indian populations differ from each other with respect to their social structure, language, marriage practices, dress and food habits, physical appearance, etc. They are inhabitated in a variety of the geographical realms, ranging from scorching desert to evergreen forest, fertile plains to the southern dry plateaus, lowlands to the breath-taking high Himalayas. Broadly, Indians speak four major families of languages: Indo-European, Dravidian, Austroasiatic, and Tibeto-Burman. In addition, India has two distinguished isolated languages, namely Andamanese and Nihalis spoken in Andaman and Nicobar Islands, and pockets of Madhya Pradesh and Maharashtra, respectively. In addition to the indigenous populations, India experienced migration of several populations in the recent past. With everything mentioned above about India, it is tempting to say that India is an “ethnic museum.” This chapter is intended to highlight the Indian population structure and its important implications.

Population stratification: India as an example

India is known for its social stratifications that include castes, tribes, and religious groups. The Rig Veda, which was written between 1700 and 1100 BC (Rao et al., 2009), is considered to be the oldest written evidence about the existence and organization of the caste system. The precise date of origin of the caste system in India is still unclear. Initially, the newborn individual was devoid of any predefined caste. Later, one's caste was assigned based on the profession followed in the course of their life.

Type
Chapter
Information
Genome-Wide Association Studies
From Polymorphism to Personalized Medicine
, pp. 315 - 340
Publisher: Cambridge University Press
Print publication year: 2016

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Agarwal, S.S., Phadke, S.R., Phadke, R.V., et al. (1994). Handigodu disease: a radiological study. A new variety of spondyloepi(meta)physeal dysplasia of the autosomal dominant type. Skel. Radiol., 23(8), 611–619.CrossRefGoogle ScholarPubMed
Aggarwal, S., Negi, S., Jha, P., et al. (2010). EGLN1 involvement in high-altitude adaptation revealed through genetic analysis of extreme constitution types defined in Ayurveda. Proc. Natl Acad. Sci. USA, 107(44), 18961–18966.CrossRefGoogle ScholarPubMed
Akira, S., Uematsu, S. and Takeuchi, O. (2006). Pathogen recognition and innate immunity. Cell, 124(4), 783–801.CrossRefGoogle ScholarPubMed
Ali, M., McKibbin, M., Booth, A., et al. (2009). Null mutations in LTBP2 cause primary congenital glaucoma. Am. J. Hum. Genet., 84(5), 664–671.CrossRefGoogle ScholarPubMed
Aschim, E.L., Giwercman, A., Stahl, O., et al. (2005). The RsaI polymorphism in the estrogen receptor-beta gene is associated with male infertility. J. Clin. Endocrinol. Metab., 90(9), 5343–5348.CrossRefGoogle ScholarPubMed
Badadani, M., Shetty, K.T. and Agarwal, S. (2010). Hypocalcitonemia in Handigodu Disease: a spondylo epi (meta) physeal dysplasia. Int. J. Clin. Exp. Med., 3(2), 115–121.Google ScholarPubMed
Badadani, M., Shetty, K.T., Babu, S.V. and Agarwal, S. (2008). Metabolic status of magnesium and ceruloplasmin in Handigodu Joint Disease: a variety of spondylo epi (meta) physeal dysplasia. Clin. Chim. Acta, 395(1–2), 170–171.CrossRefGoogle ScholarPubMed
Bamshad, M., Kivisild, T., Watkins, W.S., et al. (2001). Genetic evidence on the origins of Indian caste populations. Genome Res., 11(6), 994–1004.CrossRefGoogle ScholarPubMed
Bartoloni, L., Cazzadore, C., Ferlin, A., Garolla, A. and Foresta, C. (2004). Lack of the T54A polymorphism of the DAZL gene in infertile Italian patients. Molec. Hum. Reprod., 10(8), 613–615.CrossRefGoogle ScholarPubMed
Basu Mallick, C., Iliescu, F.M., Mols, M., et al. (2013). The light skin allele of SLC24A5 in South Asians and Europeans shares identity by descent. PLoS Genet., 9(11), e1003912.CrossRefGoogle ScholarPubMed
Been, L.F., Ralhan, S., Wander, G.S., et al. (2011). Variants in KCNQ1 increase type II diabetes susceptibility in South Asians: a study of 3,310 subjects from India and the US. BMC Med. Genet., 12, 18.CrossRefGoogle ScholarPubMed
Behar, D.M., Yunusbayev, B., Metspalu, M., et al. (2010). The genome-wide structure of the Jewish people. Nature, 466(7303), 238–242.CrossRefGoogle ScholarPubMed
Bhaskar, L.V., Thangaraj, K., Pardhasaradhi, G., et al. (2010). Neuropeptide Y gene polymorphisms are not associated with obesity in a South Indian population. Eur. J. Clin. Nutr., 64(8), 868–872.CrossRefGoogle ScholarPubMed
Browning, S.R. and Browning, B.L. (2007). Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering. Am. J. Hum. Genet., 81(5), 1084–1097.CrossRefGoogle ScholarPubMed
Cha, P.C., Zembutsu, H., Takahashi, A., et al. (2012). A genome-wide association study identifies SNP in DCC is associated with gallbladder cancer in the Japanese population. J. Hum. Genet., 57(4), 235–237.CrossRefGoogle ScholarPubMed
Chasman, D.I., Schurks, M., Anttila, V., et al. (2011). Genome-wide association study reveals three susceptibility loci for common migraine in the general population. Nature Genet., 43(7), 695–698.CrossRefGoogle ScholarPubMed
Chaubey, G. and Endicott, P. (2013). The Andaman Islanders in a regional genetic context: reexamining the evidence for an early peopling of the archipelago from South Asia. Hum. Biol., 85(1–3), 153–172.CrossRefGoogle Scholar
Chaubey, G., Karmin, M., Metspalu, E., et al. (2008). Phylogeography of mtDNA haplogroup R7 in the Indian peninsula. BMC Evol. Biol., 8, 227.CrossRefGoogle ScholarPubMed
Chaubey, G., Metspalu, M., Choi, Y., et al. (2011). Population genetic structure in Indian Austroasiatic speakers: the role of landscape barriers and sex-specific admixture. Molec. Biol. Evol., 28(2), 1013–1024.CrossRefGoogle ScholarPubMed
Cilia, R., Siri, C., Rusconi, D., et al. (2014). LRRK2 mutations in Parkinson's disease: confirmation of a gender effect in the Italian population. Parkins. Rel. Disord., 20(8), 911–914.CrossRefGoogle ScholarPubMed
Cussenot, O., Azzouzi, A.R., Nicolaiew, N., et al. (2007). Low-activity V89L variant in SRD5A2 is associated with aggressive prostate cancer risk: an explanation for the adverse effects observed in chemoprevention trials using 5-alpha-reductase inhibitors. Eur. Urol., 52(4), 1082–1087.CrossRefGoogle ScholarPubMed
Das, B.M., Das, P.B., Das, R., Walter, H. and Danker-Hopfe, H. (1986). Anthropological studies in Assam, India. Anthropol. Anz., 44(3), 239–248.Google ScholarPubMed
Dhandapany, P.S., Sadayappan, S., Xue, Y., et al. (2009). A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia. Nature Genet., 41(2), 187–191.CrossRefGoogle ScholarPubMed
Ding, B., Kull, B., Liu, Z., et al. (2005). Human neuropeptide Y signal peptide gain-of-function polymorphism is associated with increased body mass index: possible mode of function. Regul. Pept., 127(1–3), 45–53.CrossRefGoogle ScholarPubMed
Driem, G. v. (2001). Languages of the Himalayas: An Ethnolinguistic Handbook of the Greater Himalayan Region, Containing an Introduction to the Symbiotic Theory of Language. Brill, Leiden.Google Scholar
Fraser, A.M. (1992). The Gypsies. Blackwell, Oxford.Google Scholar
Freathy, R.M., Mook-Kanamori, D.O., Sovio, U., et al. (2010). Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight. Nature Genet., 42(5), 430–435.CrossRefGoogle ScholarPubMed
Gauniyal, M., Chahal, S.M. and Kshatriya, G.K. (2008). Genetic affinities of the Siddis of South India: an emigrant population of East Africa. Hum. Biol., 80(3), 251–270.CrossRefGoogle ScholarPubMed
Gauniyal, M., Aggarwal, A. and Kshatriya, G.K. (2011). Genomic structure of the immigrant Siddis of East Africa to southern India: a study of 20 autosomal DNA markers. Biochem. Genet., 49(7–8), 427–442.CrossRefGoogle ScholarPubMed
Ghosh, J., Pradhan, S. and Kshatriya, G.K. (2013). Genome-wide-associated variants in migraine susceptibility: a replication study from North India. Headache, 53(10), 1583–1594.CrossRefGoogle ScholarPubMed
Giri, A.K., Khan, N.M., Grover, S., et al. (2014). Genetic epidemiology of pharmacogenetic variations in CYP2C9, CYP4F2 and VKORC1 genes associated with warfarin dosage in the Indian population. Pharmacogenomics, 15(10), 1337–1354.CrossRefGoogle ScholarPubMed
Govindaraj, P., Nalini, A., Krishna, N., et al. (2013). Mitochondrial DNA variations in Madras motor neuron disease. Mitochondrion, 13(6), 721–728.CrossRefGoogle ScholarPubMed
Gresham, D., Morar, B., Underhill, P.A., et al. (2001). Origins and divergence of the Roma (gypsies). Am. J. Hum. Genet., 69(6), 1314–1331.CrossRefGoogle Scholar
Hancock, I.F. and Centre de recherches tsiganes (Universit©* Ren©* Descartes). (2002). We are the Romani People = Ame sam e Rromane d¿*ene. Centre de Recherches Tsiganes; University of Hertfordshire Press, Hatfield.Google Scholar
Hayes, V.M., Severi, G., Padilla, E.J., et al. (2007). 5alpha-Reductase type 2 gene variant associations with prostate cancer risk, circulating hormone levels and androgenetic alopecia. Int. J. Cancer, 120(4), 776–780.CrossRefGoogle ScholarPubMed
Hazra, A., Kraft, P., Selhub, J., et al. (2008). Common variants of FUT2 are associated with plasma vitamin B12 levels. Nature Genet., 40(10), 1160–1162.CrossRefGoogle ScholarPubMed
Herbert, A., Gerry, N.P., McQueen, M.B., et al. (2006). A common genetic variant is associated with adult and childhood obesity. Science, 312(5771), 279–283.CrossRefGoogle ScholarPubMed
India Project Team of the International Cancer Genome Consortium. (2013). Mutational landscape of gingivo-buccal oral squamous cell carcinoma reveals new recurrently-mutated genes and molecular subgroups. Nature Commun., 4, 2873.CrossRef
Indian Genome Variation Consortium. (2008). Genetic landscape of the people of India: a canvas for disease gene exploration. J. Genet., 87(1), 3–20.
Jha, A.N., Singh, V.K., Kumari, N., et al. (2012). IL-4 haplotype -590T, -34T and intron-3 VNTR R2 is associated with reduced malaria risk among ancestral Indian tribal populations. PLoS ONE, 7(10), e48136.CrossRefGoogle ScholarPubMed
Juyal, G., Prasad, P., Senapati, S., et al. (2011). An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians. PLoS ONE, 6(1), e16565.CrossRefGoogle ScholarPubMed
Khattri, A., Pandey, R.K., Gupta, N.J., et al. (2009). APOB gene signal peptide deletion polymorphism is not associated with infertility in Indian men. J. Androl., 30(6), 734–738.CrossRefGoogle Scholar
Khattri, A., Pandey, R.K., Gupta, N.J., et al. (2009). CA repeat and RsaI polymorphisms in ERbeta gene are not associated with infertility in Indian men. Int. J. Androl., 32(1), 81–87.CrossRefGoogle Scholar
Kivisild, T., Bamshad, M.J., Kaldma, K., et al. (1999). Deep common ancestry of Indian and western-Eurasian mitochondrial DNA lineages. Curr. Biol., 9(22), 1331–1334.CrossRefGoogle ScholarPubMed
Kivisild, T., Rootsi, S., Metspalu, M., et al. (2003). The genetic heritage of the earliest settlers persists both in Indian tribal and caste populations. Am. J. Hum. Genet., 72(2), 313–332.CrossRefGoogle ScholarPubMed
Klaric, I.M., Salihovic, M.P., Lauc, L.B., et al. (2009). Dissecting the molecular architecture and origin of Bayash Romani patrilineages: genetic influences from South-Asia and the Balkans. Am. J. Phys. Anthropol., 138(3), 333–342.CrossRefGoogle ScholarPubMed
Kumar, J., Sunkishala, R.R., Karthikeyan, G. and Sengupta, S. (2007a). The common genetic variant upstream of INSIG2 gene is not associated with obesity in Indian population. Clin. Genet., 71(5), 415–418.CrossRefGoogle Scholar
Kumar, V., Reddy, A.N., Babu, J.P., et al. (2007b). Y-chromosome evidence suggests a common paternal heritage of Austro-Asiatic populations. BMC Evol. Biol., 7, 47.CrossRefGoogle ScholarPubMed
Laayouni, H., Oosting, M., Luisi, P., et al. (2014). Convergent evolution in European and Rroma populations reveals pressure exerted by plague on Toll-like receptors. Proc. Natl Acad. Sci. USA, 111(7), 2668–2673.CrossRefGoogle ScholarPubMed
Lee, I., Pecinova, A., Pecina, P., et al. (2010). A suggested role for mitochondria in Noonan syndrome. Biochim. Biophys. Acta, 1802(2), 275–283.Google ScholarPubMed
Loh, M., Chua, D., Yao, Y., et al. (2013). Can population differences in chemotherapy outcomes be inferred from differences in pharmacogenetic frequencies?Pharmacogenom. J., 13(5), 423–429.CrossRefGoogle ScholarPubMed
Majumdar, D.N. and Rao, C.R. (1960). Race Elements in Bengal; A Quantitative Study. Asia Publishing House, London.Google Scholar
Mastana, S.S. and Papiha, S.S. (1992). Origin of the Romany gypsies – genetic evidence. Zeitschr. Morphol. Anthropol., 79(1), 43–51.Google ScholarPubMed
Mehrotra, S., Oommen, J., Mishra, A., et al. (2011). No evidence for association between SLC11A1 and visceral leishmaniasis in India. BMC Med. Genet., 12, 71.CrossRefGoogle ScholarPubMed
Mendizabal, I., Valente, C., Gusmão, A., et al. (2011). Reconstructing the Indian origin and dispersal of the European Roma: a maternal genetic perspective. PLoS ONE, 6(1), e15988.CrossRefGoogle ScholarPubMed
Mengual, L., Oriola, J., Ascaso, C., Ballescà, J.L. and Oliva, R. (2003). An increased CAG repeat length in the androgen receptor gene in azoospermic ICSI candidates. J. Androl., 24(2), 279–284.CrossRefGoogle ScholarPubMed
Metspalu, M., Kivisild, T., Metspalu, E., et al. (2004). Most of the extant mtDNA boundaries in south and southwest Asia were likely shaped during the initial settlement of Eurasia by anatomically modern humans. BMC Genet., 5, 26.CrossRefGoogle ScholarPubMed
Metspalu, M., Romero, I.G., Yunusbayev, B., et al. (2011). Shared and unique components of human population structure and genome-wide signals of positive selection in South Asia. Am. J. Hum. Genet., 89(6), 731–744.CrossRefGoogle ScholarPubMed
Misra, V.N. (2001). Prehistoric human colonization of India. J. Biosci., 26(4 Suppl), 491–531.CrossRefGoogle Scholar
Mohamed, H.S., Ibrahim, M.E., Miller, E.N., et al. (2004). SLC11A1 (formerly NRAMP1) and susceptibility to visceral leishmaniasis in The Sudan. Eur. J. Hum. Genet. 12(1): 66–74.CrossRefGoogle ScholarPubMed
Moorjani, P., Patterson, N., Hirschhorn, J.N., et al. (2011). The history of African gene flow into Southern Europeans, Levantines, and Jews. PLoS Genet., 7(4), e1001373.CrossRefGoogle ScholarPubMed
Moorjani, P., Patterson, N., Loh, P.R., et al. (2013a). Reconstructing Roma history from genome-wide data. PLoS ONE, 8(3), e58633.CrossRefGoogle ScholarPubMed
Moorjani, P., Thangaraj, K., Patterson, N., et al. (2013b). Genetic evidence for recent population mixture in India. Am. J. Hum. Genet., 93(3), 422–438.CrossRefGoogle ScholarPubMed
Morgenstierne, G. (1973). Irano-Dardica. Dr. Ludwig Reichert Verlag, Wiesbaden.Google Scholar
Nakano, M., Ikeda, Y., Taniguchi, T., et al. (2009). Three susceptible loci associated with primary open-angle glaucoma identified by genome-wide association study in a Japanese population. Proc. Natl Acad. Sci. USA, 106(31), 12838–12842.CrossRefGoogle Scholar
Nalini, A., Thennarasu, K., Yamini, B.K., Shivashankar, D. and Krishna, N. (2008). Madras motor neuron disease (MMND): clinical description and survival pattern of 116 patients from Southern India seen over 36 years (1971–2007). J. Neurol. Sci., 269(1–2), 65–73.CrossRefGoogle Scholar
Nalini, A., Yamini, B.K., Gayatri, N., Thennarasu, K. and Gope, R. (2006). Familial Madras motor neuron disease (FMMND): study of 15 families from southern India. J. Neurol. Sci., 250(1–2), 140–146.CrossRefGoogle ScholarPubMed
Narang, A., Jha, P., Rawat, V., et al. (2011). Recent admixture in an Indian population of African ancestry. Am. J. Hum. Genet., 89(1), 111–120.CrossRefGoogle Scholar
Nei, M. (1982). Evolution of human races at the gene level. Progr. Clin. Biol. Res., 103(Pt A), 167–181.Google ScholarPubMed
Palanichamy, M.G., Agrawal, S., Yao, Y.G., et al. (2006). Comment on “Reconstructing the origin of Andaman islanders”. Science, 311(5760), 470; author reply 470.CrossRefGoogle Scholar
Palanichamy, M.G., Zhang, C.L., Mitra, B., et al. (2010). Mitochondrial haplogroup N1a phylogeography, with implication to the origin of European farmers. BMC Evol. Biol., 10, 304.Google ScholarPubMed
Pandit, J.J., Gopa, S. and Arora, J. (2011). A hypothesis to explain the high prevalence of pseudo-cholinesterase deficiency in specific population groups. Eur. J. Anaesthesiol., 28(8), 550–552.CrossRefGoogle ScholarPubMed
Papiha, S.S. (1996). Genetic variation in India. Hum. Biol., 68(5), 607–628.Google ScholarPubMed
Patterson, N., Price, A.L. and Reich, D. (2006). Population structure and eigenanalysis. PLoS Genet., 2(12), e190.CrossRefGoogle ScholarPubMed
Peterlin, B., Zorn, B., Volk, M. and Kunej, T. (2006). Association between the apolipoprotein B signal peptide gene insertion/deletion polymorphism and male infertility. Molec. Hum. Reprod., 12(12), 777–779.CrossRefGoogle ScholarPubMed
Pott, A.F. (1844). Die Zigeuner in Europa und Asien : Ethnographischlinguistische untersuchung, vornehmlich ihrer herkunft und sprache. E. Heynemann, Halle.Google Scholar
Rafiq, S., Venkata, K.K., Gupta, V., et al. (2012). Evaluation of seven common lipid associated loci in a large Indian sib pair study. Lipids Health Dis., 11, 155.CrossRefGoogle Scholar
Rai, N., Chaubey, G., Tamang, R., et al. (2012). The phylogeography of Y-chromosome haplogroup h1a1a-m82 reveals the likely Indian origin of the European Romani populations. PLoS ONE, 7(11), e48477.CrossRefGoogle ScholarPubMed
Rai, R., Sharma, K.L., Tiwari, S., et al. (2013). DCC (deleted in colorectal carcinoma) gene variants confer increased susceptibility to gallbladder cancer (Ref. No.: Gene-D-12–01446). Gene, 518(2), 303–309.CrossRefGoogle Scholar
Rao, K.N., Kaur, I. and Chakrabarti, S. (2009). Lack of association of three primary open-angle glaucoma-susceptible loci with primary glaucomas in an Indian population. Proc. Natl Acad. Sci. USA, 106 (44), E125–126; author reply E127.CrossRefGoogle Scholar
Rajender, S., Vijayalakshmi, K., Pooja, S., et al. (2009). Longer (TA)n repeat but not A49T and V89L polymorphisms in SRD5A2 gene may confer prostate cancer risk in South Indian men. J. Androl., 30(6), 703–710.CrossRefGoogle Scholar
Ramana, G.V., Su, B., Jin, L., et al. (2001). Y-chromosome SNP haplotypes suggest evidence of gene flow among caste, tribe, and the migrant Siddi populations of Andhra Pradesh, South India. Eur. J. Hum. Genet., 9(9), 695–700.CrossRefGoogle ScholarPubMed
Rani, D.S., Dhandapany, P.S., Nallari, P., et al. (2010). Mitochondrial DNA haplogroup ‘R’ is associated with Noonan syndrome of south India. Mitochondrion, 10(2), 166–173.CrossRefGoogle ScholarPubMed
Rao, P.R. and Gopalam, K.B. (1979). High incidence of the silent allele at cholinesterase locus I in Vysyas of Andhra Pradesh (S. India). Hum. Genet., 52(1), 139–141.CrossRefGoogle Scholar
Rao, R.P., Yadav, N., Vahia, M.N., et al. (2009). Entropic evidence for linguistic structure in the Indus script. Science, 324(5931), 1165.CrossRefGoogle ScholarPubMed
Reich, D., Thangaraj, K., Patterson, N., Price, A.L. and Singh, L. (2009). Reconstructing Indian population history. Nature, 461(7263), 489–494.CrossRefGoogle ScholarPubMed
Roychoudhury, A.K. and Nei, M. (1985). Genetic relationships between Indians and their neighboring populations. Hum. Hered., 35(4), 201–206.CrossRefGoogle ScholarPubMed
Sadhukhan, T., Vishal, M., Das, G., et al. (2012). Evaluation of the role of LRRK2 gene in Parkinson's disease in an East Indian cohort. Dis. Mark., 32(6), 355–362.Google Scholar
Sahoo, S. and Kashyap, V.K. (2006). Phylogeography of mitochondrial DNA and Y-chromosome haplogroups reveal asymmetric gene flow in populations of Eastern India. Am. J. Phys. Anthropol., 131(1), 84–97.CrossRefGoogle ScholarPubMed
Sahoo, S., Singh, A., Himabindu, G., et al. (2006). A prehistory of Indian Y chromosomes: evaluating demic diffusion scenarios. Proc. Natl Acad. Sci. USA, 103(4), 843–848.CrossRefGoogle ScholarPubMed
Satake, W., Nakabayashi, Y., Mizuta, I., et al. (2009). Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. Nature Genet., 41(12), 1303–1307.CrossRefGoogle ScholarPubMed
Saxena, R., Saleheen, D., Been, L.F., et al. (2013). Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India. Diabetes, 62(5), 1746–1755.CrossRefGoogle ScholarPubMed
SEARCH Collaborative Group, Link, E., Parish, S., et al. (2008). SLCO1B1 variants and statin-induced myopathy – a genomewide study. New Engl. J. Med., 359(8), 789–799.Google ScholarPubMed
Sengupta, S., Zhivotovsky, L.A., King, R., et al. (2006). Polarity and temporality of high-resolution y-chromosome distributions in India identify both indigenous and exogenous expansions and reveal minor genetic influence of Central Asian pastoralists. Am. J. Hum. Genet., 78(2), 202–221.CrossRefGoogle ScholarPubMed
Shah, A.M., Tamang, R., Moorjani, P., et al. (2011). Indian Siddis: African descendants with Indian admixture. Am. J. Hum. Genet., 89(1), 154–161.CrossRefGoogle ScholarPubMed
Sharma, G., Tamang, R., Chaudhary, R., et al. (2012). Genetic affinities of the central Indian tribal populations. PLoS ONE, 7(2), e32546.CrossRefGoogle ScholarPubMed
Tanwar, V.S., Chand, M.P., Kumar, J., et al. (2013). Common variant in FUT2 gene is associated with levels of vitamin B(12) in Indian population. Gene, 515(1), 224–228.CrossRefGoogle Scholar
Teng, Y.N., Lin, Y.M., Lin, Y.H., et al. (2002). Association of a single-nucleotide polymorphism of the deleted-in-azoospermia-like gene with susceptibility to spermatogenic failure. J. Clin. Endocrinol. Metab., 87(11), 5258–5264.CrossRefGoogle ScholarPubMed
Thangaraj, K., Ramana, G.V. and Singh, L. (1999). Y-chromosome and mitochondrial DNA polymorphisms in Indian populations. Electrophoresis, 20(8), 1743–1747.3.0.CO;2-V>CrossRefGoogle ScholarPubMed
Thangaraj, K., Joshi, M.B., Reddy, A.G., et al. (2002). CAG repeat expansion in the androgen receptor gene is not associated with male infertility in Indian populations. J. Androl., 23(6), 815–818.Google Scholar
Thangaraj, K., Chaubey, G., Kivisild, T., et al. (2005). Reconstructing the origin of Andaman Islanders. Science, 308(5724), 996.CrossRefGoogle ScholarPubMed
Thangaraj, K., Chaubey, G., Singh, V.K., et al. (2006a). In situ origin of deep rooting lineages of mitochondrial Macrohaplogroup ‘M’ in India. BMC Genom., 7, 151.CrossRefGoogle ScholarPubMed
Thangaraj, K., Deepa, S.R., Pavani, K., et al. (2006b). A to G transitions at 260, 386 and 437 in DAZL gene are not associated with spermatogenic failure in Indian population. Int. J. Androl., 29(5), 510–514.CrossRefGoogle Scholar
Traill, G.W. (1851). Statistical Sketch of Kumaon. John Murray, London.Google Scholar
Turner, R.L. (1927). The Position of Romani in Indo-Aryan. B. Quaritch, London.Google Scholar
Underhill, P.A., Myres, N.M., Rootsi, S., et al. (2010). Separating the post-Glacial coancestry of European and Asian Y chromosomes within haplogroup R1a. Eur. J. Hum. Genet., 18(4), 479–484.CrossRefGoogle ScholarPubMed
Vasan, S.K., Neville, M.J., Antonisamy, B., et al. (2011). Absence of birth-weight lowering effect of ADCY5 and near CCNL, but association of impaired glucose-insulin homeostasis with ADCY5 in Asian Indians. PLoS ONE, 6(6), e21331.CrossRefGoogle ScholarPubMed
Voight, B.F., Scott, L.J., Steinthorsdottir, V., et al. (2010). Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nature Genet., 42(7), 579–589.CrossRefGoogle ScholarPubMed
Willer, C.J., Sanna, S., Jackson, A.U., et al. (2008). Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nature Genet., 40(2), 161–169.CrossRefGoogle ScholarPubMed
Yasuda, S.U., Zhang, L. and Huang, S.M. (2008). The role of ethnicity in variability in response to drugs: focus on clinical pharmacology studies. Clin. Pharmacol. Therapeut., 84(3), 417–423.CrossRefGoogle ScholarPubMed

Save book to Kindle

To save this book to your Kindle, first ensure [email protected] is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×