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Open Access Highly Accessed Research article

Interactions between genetic admixture, ethnic identity, APOE genotype and dementia prevalence in an admixed Cuban sample; a cross-sectional population survey and nested case-control study

Beatriz Marcheco Teruel1, Juan J Llibre Rodríguez2*, Paul McKeigue3, Teresa Collazo Mesa T1, Evelyn Fuentes1, Adolfo Valhuerdi Cepero A4, Milagros A Guerra Hernandez5, John RM Copeland JRM6, Cleusa P Ferri7 and Martin J Prince7

Author Affiliations

1 National Centre for Medical Genetics, Havana, Cuba

2 Higher Institute of Medical Sciences of Havana, Cuba

3 Public Health Sciences section, University of Edinburgh Medical School, Edinburgh, UK

4 Medical Sciences University of Matanzas, Matanzas, Cuba

5 University Policlinic "27 de Noviembre", Havana, Cuba

6 University of Liverpool, Liverpool, UK

7 King's College, London, (Institute of Psychiatry, Centre for Global Mental Health), UK

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BMC Medical Genetics 2011, 12:43  doi:10.1186/1471-2350-12-43

Published: 24 March 2011

Abstract

Background

The prevalence and incidence of dementia are low in Nigeria, but high among African-Americans. In these populations there is a high frequency of the risk-conferring APOE-e4 allele, but the risk ratio is less than in Europeans. In an admixed population of older Cubans we explored the effects of ethnic identity and genetic admixture on APOE genotype, its association with dementia, and dementia prevalence.

Methods

A cross-sectional catchment area survey of 2928 residents aged 65 and over, with a nested case-control study of individual admixture. Dementia diagnosis was established using 10/66 Dementia and DSM-IV criteria. APOE genotype was determined in 2520 participants, and genetic admixture in 235 dementia cases and 349 controls.

Results

Mean African admixture proportions were 5.8% for 'white', 28.6% for 'mixed' and 49.6% for 'black' ethnic identities. All three groups were substantially admixed with considerable overlap. African admixture was linearly related to number of APOE-e4 alleles. One or more APOE-e4 alleles was associated with dementia in 'white' and 'black' but not 'mixed' groups but neither this, nor the interaction between APOE-e4 and African admixture (PR 0.52, 95% CI 0.13-2.08) were statistically significant. Neither ethnic identity nor African admixture was associated with dementia prevalence when assessed separately. However, considering their joint effects African versus European admixture was independently associated with a higher prevalence, and 'mixed' or 'black' identity with a lower prevalence of dementia.

Conclusions

APOE genotype is strongly associated with ancestry. Larger studies are needed to confirm whether the concentration of the high-risk allele in those with African ancestry is offset by an attenuation of its effect. Counter to our hypothesis, African admixture may be associated with higher risk of dementia. Although strongly correlated, effects of admixture and ethnic identity should be distinguished when assessing genetic and environmental contributions to disease risk in mixed ancestry populations.