独特宿主遗传变异在HIV生命周期中的影响,区分南印度女性的长期非进展者和快速进展者

IF 0.5 Q4 GENETICS & HEREDITY
Muthukannan Aishwaryalakshmi , Maruthamuthu Stalinraja , Kalaimani Pandian , Manoharan Mythreyee , Madasamy Suresh , Mariakuttikan Jayalakshmi
{"title":"独特宿主遗传变异在HIV生命周期中的影响,区分南印度女性的长期非进展者和快速进展者","authors":"Muthukannan Aishwaryalakshmi ,&nbsp;Maruthamuthu Stalinraja ,&nbsp;Kalaimani Pandian ,&nbsp;Manoharan Mythreyee ,&nbsp;Madasamy Suresh ,&nbsp;Mariakuttikan Jayalakshmi","doi":"10.1016/j.humgen.2025.201382","DOIUrl":null,"url":null,"abstract":"<div><div>Human immunodeficiency virus infected individuals manifest variability to resistance and susceptibility towards the progression of acquired immunodeficiency syndrome. This contrariety challenges the understanding of host genome for the disease progression and resistance. In this study, the reasons for the differential disease progression based on the immunogenetics of the individuals are explored through whole exome sequencing. A retrospective study of 19 HIV patients, clinically classified as Long-Term Non-Progressors (LTNPs = 9) and Rapid Progressors (RPs = 10), were sequenced for their coding regions using Illumina platform. The raw data of these 19 samples were analyzed for calling single nucleotide polymorphism using various bioinformatics tools like Alignment, GATK, and SnpEff. The variations in the exome were filtered based on missense pathogenicity and combined annotation dependent depletion score. The present study identified the variations in 35 host genes involved in HIV viral life cycle that differentiate the progression of AIDS in the infected individuals. Among these host genetic variants, the variations in the genes SERINC2, NUP153, PSIP1, SUPT4H1 and EP300 were found only in the LTNPs but not in RPs. Similarly the variations in the genes TRIM54, KAT2B, BICD2, FEZ, and MAP1LC3B were found only in the RPs. The variations in the genes PDCD6IP &amp; MAP1A were observed both in LTNPs &amp; RPs. Hence, the 5 genetic variants specifically found in the LNTPs might have a key role in the delayed progression of AIDS.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"43 ","pages":"Article 201382"},"PeriodicalIF":0.5000,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Impact of unique host genetic variants in the HIV life cycle, differentiates the long-term non-progressors and rapid progressors in South Indian females\",\"authors\":\"Muthukannan Aishwaryalakshmi ,&nbsp;Maruthamuthu Stalinraja ,&nbsp;Kalaimani Pandian ,&nbsp;Manoharan Mythreyee ,&nbsp;Madasamy Suresh ,&nbsp;Mariakuttikan Jayalakshmi\",\"doi\":\"10.1016/j.humgen.2025.201382\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Human immunodeficiency virus infected individuals manifest variability to resistance and susceptibility towards the progression of acquired immunodeficiency syndrome. This contrariety challenges the understanding of host genome for the disease progression and resistance. In this study, the reasons for the differential disease progression based on the immunogenetics of the individuals are explored through whole exome sequencing. A retrospective study of 19 HIV patients, clinically classified as Long-Term Non-Progressors (LTNPs = 9) and Rapid Progressors (RPs = 10), were sequenced for their coding regions using Illumina platform. The raw data of these 19 samples were analyzed for calling single nucleotide polymorphism using various bioinformatics tools like Alignment, GATK, and SnpEff. The variations in the exome were filtered based on missense pathogenicity and combined annotation dependent depletion score. The present study identified the variations in 35 host genes involved in HIV viral life cycle that differentiate the progression of AIDS in the infected individuals. Among these host genetic variants, the variations in the genes SERINC2, NUP153, PSIP1, SUPT4H1 and EP300 were found only in the LTNPs but not in RPs. Similarly the variations in the genes TRIM54, KAT2B, BICD2, FEZ, and MAP1LC3B were found only in the RPs. The variations in the genes PDCD6IP &amp; MAP1A were observed both in LTNPs &amp; RPs. Hence, the 5 genetic variants specifically found in the LNTPs might have a key role in the delayed progression of AIDS.</div></div>\",\"PeriodicalId\":29686,\"journal\":{\"name\":\"Human Gene\",\"volume\":\"43 \",\"pages\":\"Article 201382\"},\"PeriodicalIF\":0.5000,\"publicationDate\":\"2025-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Human Gene\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2773044125000087\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Human Gene","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2773044125000087","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0

摘要

人类免疫缺陷病毒感染者对获得性免疫缺陷综合征的进展表现出抵抗力和易感性的差异。这种逆反性挑战了对宿主基因组对疾病进展和耐药性的理解。本研究通过全外显子组测序,探讨基于个体免疫遗传学差异的疾病进展原因。回顾性研究了19例HIV患者,临床分为长期非进展者(LTNPs = 9)和快速进展者(RPs = 10),使用Illumina平台对其编码区进行测序。利用Alignment、GATK、SnpEff等多种生物信息学工具,对19份样品的原始数据进行单核苷酸多态性分析。外显子组的变异根据错义致病性和联合注释依赖耗尽评分进行筛选。本研究确定了参与HIV病毒生命周期的35个宿主基因的变异,这些基因在感染个体中区分艾滋病的进展。在这些宿主遗传变异中,SERINC2、NUP153、PSIP1、SUPT4H1和EP300基因的变异仅在LTNPs中发现,而在rp中未发现。同样,TRIM54、KAT2B、BICD2、FEZ和MAP1LC3B基因的变异仅在rp中发现。基因PDCD6IP &;在LTNPs和amp;rp。因此,在ltps中特别发现的5种遗传变异可能在艾滋病的延迟进展中起关键作用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Impact of unique host genetic variants in the HIV life cycle, differentiates the long-term non-progressors and rapid progressors in South Indian females
Human immunodeficiency virus infected individuals manifest variability to resistance and susceptibility towards the progression of acquired immunodeficiency syndrome. This contrariety challenges the understanding of host genome for the disease progression and resistance. In this study, the reasons for the differential disease progression based on the immunogenetics of the individuals are explored through whole exome sequencing. A retrospective study of 19 HIV patients, clinically classified as Long-Term Non-Progressors (LTNPs = 9) and Rapid Progressors (RPs = 10), were sequenced for their coding regions using Illumina platform. The raw data of these 19 samples were analyzed for calling single nucleotide polymorphism using various bioinformatics tools like Alignment, GATK, and SnpEff. The variations in the exome were filtered based on missense pathogenicity and combined annotation dependent depletion score. The present study identified the variations in 35 host genes involved in HIV viral life cycle that differentiate the progression of AIDS in the infected individuals. Among these host genetic variants, the variations in the genes SERINC2, NUP153, PSIP1, SUPT4H1 and EP300 were found only in the LTNPs but not in RPs. Similarly the variations in the genes TRIM54, KAT2B, BICD2, FEZ, and MAP1LC3B were found only in the RPs. The variations in the genes PDCD6IP & MAP1A were observed both in LTNPs & RPs. Hence, the 5 genetic variants specifically found in the LNTPs might have a key role in the delayed progression of AIDS.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Human Gene
Human Gene Biochemistry, Genetics and Molecular Biology (General), Genetics
CiteScore
1.60
自引率
0.00%
发文量
0
审稿时长
54 days
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信