Research suggests importance of haplotypes over SNPs (original) (raw)

Nature Biotechnology volume 18, pages 1134–1135 (2000)Cite this article

Identifying drug response and disease susceptibility in individuals revolves around the identification of single nucleotide polymorphisms (SNPs) or changes to single bases within genes, but two papers published recently support the theory that the grouping and interaction of several SNPs in haplotypes may be more important. The commercial implications are significant as the development of reliable, cost-effective tests to predict an individual's reaction to a drug or risk of disease will be considerably more complex if haplotypes need to be determined rather than single SNPs. However, many companies are reluctant to restrict investigations to either single SNPs, two or three SNPs, or the haplotypes.

In September, Genaissance (New Haven, CT) and collaborators at the University of Cincinnati College of Medicine for the first time correlated an individual's genetic response to salbutamol with the interaction of multiple SNPs within a haplotype, but could not find a correlation with individual SNPs (PNAS 97, 10483–10488, 2000). In the paper, the researchers identified 13 SNPs in the genetic sequence for the beta-2 adrenergic receptor (the target for salbutamol) within cells from normal, non-asthmatic individuals. By combining these data with information on a reference population of 94 individuals and information from asthmatic patients, Genaissance statistically determined (inferred) the possible haplotypes that actually exist in nature. From the 12 haplotypes determined in this manner only four occurred in the majority of asthma patients analysed. In a subsequent clinical trial, both the haplotypes and the response to salbutamol of 121 asthma patients were determined; it was found that responses to the drug correlated with the patients' haplotype, rather than any individual SNP.

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    Sylvia Davidson

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Davidson, S. Research suggests importance of haplotypes over SNPs.Nat Biotechnol 18, 1134–1135 (2000). https://doi.org/10.1038/81100

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