DNA polymorphisms at BCL11A, HBS1L-MYB and Xmn1-HBG2 site loci associated with fetal hemoglobin levels in sickle cell anemia patients from Northern Brazil
| Autor: | Aylla N L M Silva, Maria do Socorro de Oliveira Cardoso, Josivaldo Soares da Silva Junior, Sidney Santos, Greice de Lemos Cardoso, João Farias Guerreiro, Camila Tavares Carvalho Uchôa, Isabela Guerreiro Diniz, Daniele Almeida Cunha, Saide Maria Sarmento Trindade |
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| Rok vydání: | 2014 |
| Předmět: |
Adult
Male congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Adolescent Hemoglobin Sickle Black People Single-nucleotide polymorphism Anemia Sickle Cell Biology Polymorphism Single Nucleotide Genetic modifier HBG2 White People hemic and lymphatic diseases Internal medicine Fetal hemoglobin medicine Humans gamma-Globins MYB Allele Child Promoter Regions Genetic Molecular Biology Genetics Indians South American Dna polymorphism Promoter Cell Biology Hematology medicine.disease Sickle cell anemia Endocrinology Genetic Loci Brazilian patients Molecular Medicine DNA Intergenic Female |
| Zdroj: | Blood Cells, Molecules, and Diseases. 53:176-179 |
| ISSN: | 1079-9796 |
| DOI: | 10.1016/j.bcmd.2014.07.006 |
| Popis: | Increased levels of fetal hemoglobin (HbF, α2γ2) may reduce sickle cell anemia severity due to its ability to inhibit HbS polymerization and also reduce the mean corpuscular HbS concentration. We have investigated the influence of three known major loci on the HbF trait (HBG2, rs748214; BCL11A, rs4671393; and HBS1L-MYB, rs28384513, rs489544 and rs9399137) and HbF levels in SCA patients from the State of Pará, Northern Brazil. Our results showed that high levels of HbF were primarily influenced by alleles of BCL11A (rs4671393) and HMIP (rs4895441) loci, and to a lesser extent by rs748214 Gγ-globin (HBG2) gene promoter. The SNPs rs4671393 and rs4895441 explained 10% and 9.2%, respectively, of the variation in HbF levels, while 4.1% of trait variation was explained by rs748214. The results can be considered as in accordance with the pattern of ancestry displayed by the SCA patients: 39.6% European, 29.6% African and 30.8% Native American, and reinforce the suggestion that studies of association between genetic modifiers and clinical and laboratory manifestations in Brazil must be controlled by ancestry. |
| Databáze: | OpenAIRE |
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