TRIM5变异体对波兰人群中HIV-1感染易感性和疾病进展的影响。

IF 1 4区 生物学 Q4 GENETICS & HEREDITY Annals of Human Genetics Pub Date : 2023-11-09 DOI:10.1111/ahg.12536
Jolanta Bratosiewicz-Wąsik, Maria Miklasińska-Majdanik, Tomasz J. Wąsik
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引用次数: 0

摘要

背景:含有5α蛋白的三元基序是参与细胞内防御人类免疫缺陷病毒-1(HIV-1)感染机制的一个因素。TRIM5变体对HIV-1感染风险和临床病程影响的研究在不同种族中提供了不确定的结果。本研究的目的是研究TRIM5变体对波兰HIV-1感染患者的HIV-1感染易感性和临床参数的影响。材料与方法:在我们的研究中,我们调查了301名HIV-1感染患者和186名年龄匹配的血清阴性对照。使用测序和聚合酶链式反应限制性片段长度多态性(PCR-RFLP)技术对TRIM5基因的七个变体(rs7127617、rs3824949、rs3740996、rs11601507、rs10838525、rs11038628和rs28381981)进行基因分型。结果和结论:与对照组相比,感染HIV-1的受试者rs7127617 TT基因型和T等位基因的发生频率较低(T/T基因型为0.14比0.26,T等位蛋白为0.45比0.54),表明它们可能具有保护作用(分别为0.005和0.007)。与HIV-1感染组相比,对照组rs3740996的杂合性和T等位基因的存在更为丰富(C/T基因型为0.19对0.12,T等位蛋白为0.11对0.07;分别为0.03和0.02)。此外,rs3824949 CC基因型携带者的病毒载量低于携带rs3824949GG/CG基因型的患者(4.0对4.6 log拷贝/mL;p=0.049);然而,没有一种变体影响CD4+细胞计数。总之,我们的数据证实了TRIM5变体在HIV-1传播和HIV-1感染的临床过程中的作用。rs7127617 TT基因型和T等位基因的存在似乎可以保护受试人群免受HIV-1的传播。
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The effect of TRIM5 variants on the susceptibility to HIV-1 infection and disease progression in the Polish population

Backgroud

Tripartite motif containing 5α protein is a factor contributing to intracellular defense mechanisms against human immunodeficiency virus-1 (HIV-1) infection. The studies of TRIM5 variants effects on the risk of HIV-1 infection and the clinical course of disease provided inconclusive results in different ethnic groups. The aim of this study was to investigate the influence of TRIM5 variants on susceptibility to HIV-1 infection and clinical parameters among Polish HIV-1-infected patients.

Materials & Methods

In our study, we investigated 301 HIV-1-infected patients and 186 age-matched seronegative controls. Seven variants of the TRIM5 gene (rs7127617, rs3824949, rs3740996, rs11601507, rs10838525, rs11038628, and rs28381981) were genotyped using both sequencing and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) techniques.

Results and Conclusions

The frequencies of rs7127617 TT genotype and T allele occurrence were lower in HIV-1-infected subjects compared to controls (0.14 vs. 0.26 for T/T genotype and 0.45 vs. 0.54 for T allele), suggesting their possible protective effect (p = 0.005 and p = 0.007, respectively). Heterozygosity and presence of the T allele at rs3740996 were enriched in controls compared to HIV-1-infected group (0.19 vs. 0.12 for C/T genotype and 0.11 vs. 0.07 for T allele; p = 0.03 and p = 0.02, respectively). Moreover, rs3824949 CC genotype carriers had a lower viral load than patients bearing rs3824949 GG/CG genotypes (4.0 vs. 4.6 log copies/mL; p = 0.049); however, none of the variants affected CD4+ cell count. In conclusion, our data confirm the role of TRIM5 variants in the HIV-1 transmission and the clinical course of HIV-1 infection. The presence of rs7127617 TT genotype and T allele seems to protect against HIV-1 transmission in examined population.

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来源期刊
Annals of Human Genetics
Annals of Human Genetics 生物-遗传学
CiteScore
4.20
自引率
0.00%
发文量
34
审稿时长
3 months
期刊介绍: Annals of Human Genetics publishes material directly concerned with human genetics or the application of scientific principles and techniques to any aspect of human inheritance. Papers that describe work on other species that may be relevant to human genetics will also be considered. Mathematical models should include examples of application to data where possible. Authors are welcome to submit Supporting Information, such as data sets or additional figures or tables, that will not be published in the print edition of the journal, but which will be viewable via the online edition and stored on the website.
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