Stromal cell-derived factor 1 polymorphism in patients infected with HIV and implications for AIDS progression in Tunisia
Stromal cell-derived factor 1 polymorphism in patients infected with HIV and implications for AIDS progression in Tunisia
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DOI：
10.2147/hiv.s13609
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发表时间：
2010-01-01
影响因子：
1.5
通讯作者：
Jenhani, Faouzi
中科院分区：
文献类型：
--
作者：
Amara, Sameh;Domenech, Jorge;Jenhani, Faouzi
背景资料：在人类免疫缺陷病毒（HIV）感染的流行病学中的一个有趣的发现是，编码趋化因子及其受体和配体的基因中的某些突变可能赋予对HIV-1感染和获得性免疫缺陷综合征（AIDS）进展的抗性或易感性。最常研究的突变是基质细胞衍生因子（SDF）1-3' A，这是SDF 1基因3'非翻译区801位的单核苷酸多态性，似乎与疾病（包括AIDS）的易感性或抗性相关。我们研究了上述多态性在突尼斯人口的频率，并评估其贡献的保护性遗传背景对HIV感染和progress.Methods和材料：140例HIV感染者的血液样本从细胞免疫学研究实验室在国家输血中心进行了比较，从同一中心的164个随机献血者。基因分型最初通过聚合酶链反应（PCR）分析进行。对SDF 1 PCR产物基因组区域进一步进行限制性片段长度多态性分析以确定基因型。在HIV感染人群中筛查SDF 1多态性，得到56例杂合子（40%）、52例突变纯合子（37.1%）和32例野生型纯合子（22.8%）受试者。相比之下，在我们的健康人群中，我们发现70/164例杂合子（42.6%），9例突变纯合子（5.4%）和85例野生型纯合子（51.8%）受试者。HIV感染者和健康人群的等位基因频率分别为f（SD 13 ' A）= 57.1%，f（SDF 1）= 42.8%，f（SDF 13' A）= 26.8%，f（SDF 1）= 73.1%。与其他高加索人、欧洲人和非洲裔美国人相比，我们人群中SDF 1 3' A的等位基因和基因型频率显示出显著更高的分布特征。我们的结果经卡方检验，证实了多态性与艾滋病进展之间的关联。SDF 1 -3' A等位基因的优势比（>1）高于野生型等位基因（
Background: An interesting finding in the epidemiology of human immunodeficiency virus (HIV) infection is that certain mutations in genes coding for chemokines, and their receptors and ligands, may confer resistance or susceptibility to HIV-1 infection and acquired immunodeficiency syndrome (AIDS) progression. The mutation most frequently studied is stromal cell-derived factor (SDF) 1-3' A, a single nucleotide polymorphism in the 3' untranslated region at the 801 position of the SDF1 gene, which seems to be associated with susceptibility or resistance to diseases, including AIDS. We examined the frequency of the above polymorphisms in the Tunisian population, and evaluated their contribution to a protective genetic background against HIV infection and progression.Methods and materials: One hundred forty blood samples from HIV-infected patients from the Cellular Immunology Research Laboratory at the National Blood Transfusion Center were compared with those of 164 random blood donors from the same center. Genotyping was initially performed by polymerase chain reaction (PCR) analysis. SDF1 PCR product genomic regions were further subjected to restriction fragment length polymorphism analysis for genotype determination. Screening for the SDF1 polymorphism in the HIV-infected population yielded 56 heterozygous (40%), 52 mutation homozygous (37.1%), and 32 wild-type homozygous (22.8%) subjects. In contrast, in our healthy population, we found 70/164 heterozygous (42.6%), nine mutation homozygous (5.4%), and 85 wild-type homozygous (51.8%) subjects. The allele frequencies in the HIV-infected and healthy populations were f(SD1 3' A) = 57.1%, f(SDF1) = 42.8%, f(SDF1 3' A) = 26.8%, and f(SDF1) = 73.1%, respectively. The allelic and genotypic frequencies of the SDF1 3' A in our population show significantly higher distribution profiles compared with those observed in other Caucasian, European, and African American populations. Our results were examined by chi(2) test and appear to confirm an association between polymorphism and AIDS progression. A higher odds ratio (>1) was found for the SDF1-3' A allele than for the wild-type allele (