alexa Population stratification and genetic association studies in South Asia
ISSN: 1747-0862

Journal of Molecular and Genetic Medicine
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Review Article

Population stratification and genetic association studies in South Asia

Alan H Bittles*

Centre for Human Genetics, Edith Cowan University, 100 Joondalup Drive, Perth WA 6027, Australia

*Corresponding Author:
Alan H Bittles
Tel: +61 8 6304 5623
Fax: +61 8 6304 5851
Email: [email protected]

Received date: 25 November 2005; Accepted date: 13 December 2005; Available online 30 December 2005; Published date: 30 December 2005

© Copyright: Alan H Bittles

Abstract

Population stratification and its influence on genetic association studies is a controversial topic. Although it has been suggested that stratification is unlikely to bias the results of association studies conducted in developed countries, convincing contrary empirical evidence has been published. However, it is in populations where historical ethnic, religious and language barriers exist that community subdivisions will predictably exert greatest genetic effect, and influence the organization of association studies. In many of the populations of the Indian sub-continent, these basic population divisions are compounded by a strict tradition of intracommunity marriage and by marriage between close biological relatives. Data on the very significant levels of genetic diversity that characterize the populations of India and Pakistan, with some 50,000-60,000 caste and non-caste communities in India, and average first cousin marriage rates of 40%-50% in Pakistan, are presented and discussed. Under these circumstances, failure to explicitly control for caste/biraderi membership and the presence of consanguinity could seriously jeopardize, and may totally invalidate, the results of association/case control studies and clinical trials

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