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International Journal of Epidemiology 2001;30:661-667
© International Epidemiological Association 2001

Review Article

Epidemiology and the genetic basis of disease

Ian NM Daya, Dongfeng Gub, Rosalind H Gandertona, Emmanuel Spanakisa and Shu Yea

a Human Genetics Research Division, Southampton University School of Medicine, Southampton SO16 6YD, UK.
b Cardiovascular Institute, Fu Wai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 167 Beilishi Road, Beijing 100037, China.

Prof. Ian NM Day, Human Genetics Research Division, Southampton University School of Medicine, Duthie Building (MP 808), Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK. E-mail: inmd@soton.ac.uk

The first 150 words of the full text of this article appear below.

‘Expt. 1: Form of seed. From 253 hybrids 7324 seeds were obtained in the second trial year. Among them were 5474 round or roundish ones and 1850 angular wrinkled ones. Therefore the ratio 2.96:1 is deduced.’ These words derive from Gregor Mendel's obscure paper of 1865, now most readily accessible in translation on the Internet.1 Of course he was counting peas, not people, but he was finding out about fundamental modes of determination of inherited (genetic) characteristics. Traditional epidemiology took its roots around the same time from the study of infectious epidemics such as the 1854 cholera outbreak mapped by Dr John Snow to the Broad Street pump in London. In the absence of many definable genetic variables, or indeed recognition of genetic factors, the study of environmental variables with immediate implications for public health became prevalent. Genetic epidemiology has been defined as ‘a science that deals with aetiology, distribution . . . [Full Text of this Article]

(i) Functional variants identified by biochemical and cellular studies

(ii) Functional variants identified by linkage and positional cloning

(iii) Disease-associated gene variants identified by candidate gene studies

(iv) Disease-associated gene variants identified by ‘genome-wide’ studies

Glossary


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