Genetic structure of forensic populations.

Morton, N. E.

doi:10.1073/pnas.89.7.2556

Cited by 80 publications

(29 citation statements)

References 14 publications

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“…The correlations among all four genes must therefore be assessed, and these can be approximated in terms of F only (Nichols & Balding, 1991;Morton, 1992;Weir, 1994).…”

Section: Estimating Genetic Correlations Forensic Applicationsmentioning

confidence: 99%

Significant genetic correlations among Caucasians at forensic DNA loci

Balding

Nichols

1997

Heredity

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Although the effect of population differentiation on the forensic use of DNA profiles has been the subject of controversy for some years now, the debate has largely failed to focus on the genetical questions directly relevant to the forensic context. We re-analyse two published data sets and find that they convey much the same message for forensic inference, in contrast with the dramatically differing conclusions of the original authors. The analysis is likelihood-based and combines information across loci and across populations without assuming constant genetic differentiation. Our results suggest that the relevant genetic correlation coefficients are too large to be ignored in forensic work: although DNA profile evidence is typically very strong, the effect of genetic correlations can be important in some cases. Such correlations can, however, be accommodated in an appropriate assessment of evidential strength so that population genetic issues should not present a barrier to the efficient and fair use of DNA profile evidence.

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“…The correlations among all four genes must therefore be assessed, and these can be approximated in terms of F only (Nichols & Balding, 1991;Morton, 1992;Weir, 1994).…”

Section: Estimating Genetic Correlations Forensic Applicationsmentioning

confidence: 99%

Significant genetic correlations among Caucasians at forensic DNA loci

Balding

Nichols

1997

Heredity

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“…The markers chosen for DNA profiling are considered to be essentially uniform across populations of the same category. Although the existence of problems with group definition has been acknowledged (e.g., Weir 2001), the fact that some individuals may not be easy to allocate to any such group is usually regarded as unimportant (National Research Council 1992;Lander and Budowle 1994;Morton 1994;Roeder 1994;Gill and Evett 1995). In clinical practice, a correlation of racial affiliation, as assessed from skin color, facial characteristics, hair texture, and so forth, with disease pathology and drug response is widely believed to exist.…”

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confidence: 99%

Patterns of Human Diversity, within and among Continents, Inferred from Biallelic DNA Polymorphisms

Romualdi¹,

Balding²,

Nasidze³

et al. 2002

Genome Res.

199

123

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Previous studies have reported that about 85% of human diversity at Short Tandem Repeat (STR) and Restriction Fragment Length Polymorphism (RFLP) autosomal loci is due to differences between individuals of the same population, whereas differences among continental groups account for only 10% of the overall genetic variance. These findings conflict with popular notions of distinct and relatively homogeneous human races, and may also call into question the apparent usefulness of ethnic classification in, for example, medical diagnostics. Here, we present new data on 21 Alu insertions in 32 populations. We analyze these data along with three other large, globally dispersed data sets consisting of apparently neutral biallelic nuclear markers, as well as with a ␤-globin data set possibly subject to selection. We confirm the previous results for the autosomal data, and find a higher diversity among continents for Y-chromosome loci. We also extend the analyses to address two questions: (1) whether differences between continental groups, although small, are nevertheless large enough to confidently assign individuals to their continent on the basis of their genotypes; (2) whether the observed genotypes naturally cluster into continental or population groups when the sample source location is ignored. Using a range of statistical methods, we show that classification errors are at best around 30% for autosomal biallelic polymorphisms and 27% for the Y chromosome. Two data sets suggest the existence of three and four major groups of genotypes worldwide, respectively, and the two groupings are inconsistent. These results suggest that, at random biallelic loci, there is little evidence, if any, of a clear subdivision of humans into biologically defined groups.In various areas of applied genetics, it is customary to regard the human species as divided in distinct and objectively recognizable groups. Forensic scientists compare DNA profiles from the place of a crime with databases from the general population, usually grouped into broad racial categories (for instance, African-American, European-American, Asian, and Hispanic), to estimate the probability that an unrelated individual would have the identical DNA profile. The markers chosen for DNA profiling are considered to be essentially uniform across populations of the same category. Although the existence of problems with group definition has been acknowledged (e.g., Weir 2001), the fact that some individuals may not be easy to allocate to any such group is usually regarded as unimportant (National Research Council 1992;Lander and Budowle 1994;Morton 1994;Roeder 1994;Gill and Evett 1995). In clinical practice, a correlation of racial affiliation, as assessed from skin color, facial characteristics, hair texture, and so forth, with disease pathology and drug response is widely believed to exist. A PubMed search with the keywords "human races" (January 10, 2002) In contrast, population studies have suggested that genetic variation is essentially continuous through space amon...

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“…This confounding is likely to be minimised if the analysis is restricted to a single race. Since Caucasians comprised the large majority of study participants, and the level of intra-population variability within Caucasians is low, 31 our main analysis was restricted to 924 Caucasians, thus controlling for the major component of genetic substructure 32 in the study population. Caucasians were defined in the OPUS study as persons of white race, as opposed to the alternative definitions of black, asian, hispanic/latin american, or other.…”

Section: Discussionmentioning

confidence: 99%

The contribution of genetic factors to thrombotic and bleeding outcomes in coronary patients randomised to IIb/IIIa antagonists

et al. 2002

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Genetic variants are risk factors for coronary disease, but their role in recurrent events and in response to treatment is less clear. We genotyped genetic variants implicated in primary coronary disease in 924 Caucasians with acute coronary syndromes participating in the OPUS-TIMI16 trial of the GPIIb/IIIa antagonist orbofiban. These were the platelet glycoprotein (GP) receptors GPIIIa, GPIa, GPIb␣; platelet ligands ␤-fibrinogen and von Willebrand Factor (vWF); interleukins (IL) IL-1RN, and IL-6; adhesion proteins E-selectin and Pselectin; and metalloproteinase MMP-9. Cox modelling of all genetic variants demonstrated no significant impact on the composite endpoint (P ϭ 0.88), which included myocardial infarction (MI), death, recurrent ischemia, urgent revascularisation and stroke, but a significant impact on recurrent myocardial infarction alone ( 2 ϭ 20.4, 10 df, P = 0.04). There was a significant interaction of the polymorphisms with orbofiban treatment influencing bleeding outcomes (P ϭ 0.004). Thus, genetic polymorphisms may be associated with subsequent myocardial infarction, and may also be associated with treatment-associated bleeding among coronary patients.

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Genetic structure of forensic populations.

Abstract: DNA-based identification depends on the probability that two different individuals have the same phe-

Cited by 80 publications

References 14 publications

Significant genetic correlations among Caucasians at forensic DNA loci

Significant genetic correlations among Caucasians at forensic DNA loci

Patterns of Human Diversity, within and among Continents, Inferred from Biallelic DNA Polymorphisms

The contribution of genetic factors to thrombotic and bleeding outcomes in coronary patients randomised to IIb/IIIa antagonists

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