Title

Population stratification and genetic association studies in South Asia

Document Type

Journal Article

Publisher

Library Publishing Media

Faculty

Computing, Health and Science

School

School of Exercise, Biomedical and Health Science

RAS ID

2980

Comments

Originally published as: Bittles, A. H. (2005). Population stratification and genetic association studies in South Asia. Journal of molecular and genetic medicine: an international journal of biomedical research, 1(2), 43. Original article available here

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 intra-community 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.

Access Rights

free_to_read