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Marked Differences of Haplotype Tagging SNP Distribution, Linkage, and Haplotype Profile of APOA5 Gene in Roma Population Samples

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Pathology & Oncology Research

Abstract

Roma people are underprivileged, neglected population worldwide, with severe healthcare problems. They have significantly increased prevalence of cardiovascular morbidity, presumably related to their poor social status, alcohol consumption and smoking habits. Assuming that genetic background also plays a role in their susceptibility for cardiovascular diseases, we hypothesized that APOA5 gene polymorphisms, an important role-player in lipid metabolism and in the development of metabolic syndrome and cardio/cerebrovascular events, may also be involved. We examined four APOA5 polymorphisms in 363 Roma and 404 Hungarian DNA samples. For rs662799, rs2266788, rs207560 and rs3135506 we found elevated plasma triglyceride levels in the risk allele carriers compared to non-carriers in both populations. At least a two-fold significant increase was detected in minor allele frequencies in Roma when compared to Hungarians, except the rs2266788 variant. Haplotype analysis revealed significant increase of APOA5*2, APOA5*4 in Roma, as opposed to the higher levels of APOA5*5 found in Hungarians. Different linkage disequilibrium was found between rs207560 and rs3135506 variants in Roma compared to Hungarians. The profound differences observed in almost all APOA5 polymorphisms in Roma require special attention, since these variants are known to associate with cardio/cerebrovascular susceptibility.

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Acknowledgements

We would like to thank Ildiko Bock-Marquette and Jon Marquette for their English review. (UTSW Dallas, Texas)

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Authors and Affiliations

  1. Department of Medical Genetics, Clinical Center, University of Pecs, Hungary, Szigeti Street 12, Pecs, H-7624, Hungary

    Katalin Sumegi, Balazs Duga, Bela I. Melegh, Zsolt Banfai, Erzsebet Kovesdi, Anita Maasz & Bela Melegh

  2. Human Genetic and Pharmacogenomic Research Group, Janos Szentagothai Research Centre, Pecs, Hungary, Ifjusag Street 20, Pecs, 7624, Hungary

    Katalin Sumegi, Balazs Duga, Bela I. Melegh, Zsolt Banfai, Erzsebet Kovesdi & Bela Melegh

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  1. Katalin Sumegi
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  2. Balazs Duga
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  3. Bela I. Melegh
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Correspondence to Bela Melegh.

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The study was supported by the grant of OTKA K103983.

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Sumegi, K., Duga, B., Melegh, B.I. et al. Marked Differences of Haplotype Tagging SNP Distribution, Linkage, and Haplotype Profile of APOA5 Gene in Roma Population Samples. Pathol. Oncol. Res. 23, 853–861 (2017). https://doi.org/10.1007/s12253-017-0197-3

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