Abstract
African descended populations exhibit an increased prevalence of asthma and allergies compared to Europeans. One approach to distinguish between environmental and genetic explanations for this difference is to study relationships of asthma risk to individual admixture. We aimed to determine the admixture proportions of a case-control sample from the Caribbean Coast of Colombia currently participating in genetic studies for asthma, and to test for population stratification and association between African ancestry and asthma and total serum IgE levels (tIgE). We genotyped 368 asthmatics and 365 non-asthmatics for 52 autosomal ancestry informative markers, six mtDNA haplogroups and nine haplogroups and five microsatellites in Y chromosome. Autosomal admixture proportions, population stratification, and associations between ancestry and the phenotypes were estimated by ADMIXMAP. The average admixture proportions among asthmatics were 42.8% European, 39.9% African and 17.2% Native American and among non-asthmatics they were 44.2% (P = 0.068), 37.6% (P = 0.007) and 18.1% (P = 0.050), respectively. In the total sample, the paternal contributions were 71% European, 25% African and 4.0% Native American and the maternal lineages were 56.8% Native American, and 20.2% African; 22.9% of the individuals carried other non-Native American mtDNA haplogroups. African ancestry was significantly associated with asthma (OR: 2.97; 95% CI: 1.08–8.08), high tIgE (OR: 1.9; 95% CI: 1.17–3.12) and socioeconomic status (OR = 0.64; 95% CI: 0.47–0.87). Significant population stratification was observed in this sample. Our findings indicate that genetic factors can explain the association between asthma and African ancestry and suggest that this sample is a useful resource for performing admixture mapping for asthma.
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Abbreviations
- tIgE:
-
Total serum IgE
- AIM:
-
Ancestry informative marker
- OR:
-
Odds ratio
- IC:
-
Interval confidence
- Pct 2.5:
-
Percentile 2.5
- Pct 97.5:
-
Percentile 97.5
- δ:
-
Delta (differences in allelic frequencies between populations)
- GCU:
-
Government Community Units
- HWE:
-
Hardy–Weinberg equilibrium
- ELISA:
-
Enzyme linked immunosorbent assay
- PCR/RFLP:
-
Polymerase chain reaction/restriction fragment length polymorphism
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Acknowledgments
We thank all the individuals participating in this study. We thank Omer Campo for his help with the genotyping of the samples. We also thank Rasika A. Mathias and Terri H. Beaty for their support during the data analysis and Maria Stockton-Porter and Patricia Oldewurtel for their technical assistance. This work was supported by the Colombian Institute for the Development of Science and Technology, COLCIENCIAS, (grant number 109-2007) and National Institutes of Health (HL08769). K.C.B. was supported in part by the Mary Beryl Patch Turnbull Scholar Program.
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Vergara, C., Caraballo, L., Mercado, D. et al. African ancestry is associated with risk of asthma and high total serum IgE in a population from the Caribbean Coast of Colombia. Hum Genet 125, 565–579 (2009). https://doi.org/10.1007/s00439-009-0649-2
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DOI: https://doi.org/10.1007/s00439-009-0649-2