HMOX1基因的多态性与巴西镰状细胞贫血患者的高胎儿血红蛋白水平相关。
Polymorphism in the HMOX1 gene is associated with high levels of fetal hemoglobin in Brazilian patients with sickle cell anemia.
作者信息
Gil Gislene P, Ananina Galina, Oliveira Mariana B, Costa Fernando F, Silva Márcio J, Santos Magnun N N, Bezerra Marcos A C, Hatzlhofer Betânia L D, Araujo Aderson S, Melo Mônica B
机构信息
Laboratory of Human Molecular Genetics, Center of Molecular Biology and Genetic Engineering CBMEG, University of Campinas UNICAMP, Campinas, São Paulo, Brazil.
出版信息
Hemoglobin. 2013;37(4):315-24. doi: 10.3109/03630269.2013.789438. Epub 2013 Jun 3.
The aim of this study was to investigate the association between three polymorphisms involved in the oxidative stress pathway and fetal hemoglobin (Hb F) levels in patients with sickle cell anemia in a Brazilian population. One hundred and seven patients with sickle cell anemia were recruited for genomic DNA extraction. The levels of Hb F, sex and age were evaluated. Three polymorphisms, rs4673:T>C and rs9932581:G>A in the CYBA gene and rs2071746:A>T in the HMOX1 gene, were identified through direct sequencing. Hb F levels were not associated with sex, age, or the polymorphisms rs4673:T>C and rs9932581:G>A. However, the TT genotype of the rs2071746:A>T polymorphism was associated with increased levels of Hb F (p value = 0.0131). We observed an association between the TT genotype of the rs2071746:A>T polymorphism, present in the HMOX1 gene, and increased levels of Hb F, indicating the presence of a new marker related to Hb F levels in sickle cell anemia patients.
本研究旨在调查巴西人群中镰状细胞贫血患者氧化应激途径中涉及的三种多态性与胎儿血红蛋白（Hb F）水平之间的关联。招募了107例镰状细胞贫血患者用于提取基因组DNA。评估了Hb F水平、性别和年龄。通过直接测序鉴定了CYBA基因中的三种多态性，即rs4673:T>C和rs9932581:G>A，以及HMOX1基因中的rs2071746:A>T。Hb F水平与性别、年龄或rs4673:T>C和rs9932581:G>A多态性无关。然而，rs2071746:A>T多态性的TT基因型与Hb F水平升高有关（p值 = 0.0131）。我们观察到HMOX1基因中存在的rs2071746:A>T多态性的TT基因型与Hb F水平升高之间存在关联，这表明镰状细胞贫血患者中存在与Hb F水平相关的新标记。
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