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Official Journal of the Human Genome Organisation

Table 5 Terms used, and ways of describing populations compiled from our sample set

From: The use of race, ethnicity and ancestry in human genetic research

Terms and ways of describing or referring to populations

Example

Ancestry/ancestral groups

‘Despite wide variation in allele frequency, these genetic variants show notable homogeneity of effect across populations of European ancestry living at different latitudes and show independent association to disease risk’ (Bishop et al. 2009)

Anthropological names

‘The names we use are the ones by which the groups are described anthropologically, but are not unique identifiers’ (Reich et al. 2009)

‘X’-derived

‘Variants in the FTO gene have been associated with obesity measures in mainly European-derived populations’ (Wing et al. 2009)

Of ‘X’-descent

‘Significant associations with individual SNPs at a common locus were observed in the two independent populations of African descent’ (Garner et al. 2008)

Ethnicity/ethnic

‘Importantly, we made similar observations when comparing populations of the same ethnicity’ (Shi et al. 2009)

Ethnogeographic groups

‘These results also show that two individuals carrying the same mtDNA haplotype can be classified in opposite ethnogeographic groups…’ (Keyser et al. 2009)

Linguistic groups

‘The structure results, population phylogenies, and PCA results all show that populations from the same linguistic group tend to cluster together’ (HUGO Pan-Asian SNP Consortium et al. 2009)

Of ‘X’-origin

‘The clinical characteristics of participants in five independent cohorts—the white U.S. GWAS sample (n 1/4 1000), the white US family sample (n 1/4 1972), the Chinese hip fracture (HF) sample (n 1/4 700), the Chinese BMD sample (n 1/4 2995), and the Tobago cohort of African origin (n 1/4 908 men)—are described in Tables 1, 2, 3, 4, 5’ (Xiong et al. 2009)

Race/racial groups

‘We also performed race stratified analyses to control for potential confounding by race as well as to evaluate the previously reported race-specific results’ (Crosslin et al. 2009)

Only population identifier or name used

‘Using genome-wide association data from 1,376 French individuals, we identified 16,360 SNPs nominally associated with T2D and studied these SNPs in an independent sample of 4,977 French individuals’ (Rung et al. 2009)