家族性局灶节段性肾小球硬化的遗传方面

Suraksha Agrawal , Swayam Prakash , Raj Kumar Sharma
{"title":"家族性局灶节段性肾小球硬化的遗传方面","authors":"Suraksha Agrawal ,&nbsp;Swayam Prakash ,&nbsp;Raj Kumar Sharma","doi":"10.1016/j.cqn.2014.06.001","DOIUrl":null,"url":null,"abstract":"<div><p><span>Focal Segmental Glomerulosclerosis (FSGS) participates in different clinical presentations therefore involved in underlying pathophysiological etiologies. Numerous reports have proposed that vulnerability to develop FSGS has an important genetic component. These studies comprise familial aggregation, differences in the incidence of FSGS between different ethnic groups, and </span>segregation analysis<span>. Genetic methods have been used to classify genes that contribute towards genetic predisposition. Various studies revealed the precise role of “candidate genes”, which may cause FSGS with different pathogenesis. New studies to assess the role of associated genes have shown contradictory results. These results may be due to the fact that some of the previously reported genes may play only a moderate role. Presently genome wide studies have been carried out and these studies have contributed in finding out the location chromosomal positions. Interestingly novel, unrecognized genes to FSGS have been found. We have focused on different genetic studies including exact role and function of these genes on FSGS and have discussed the strength and weaknesses of these studies. Understanding of the development of FSGS may track future therapies and outcomes.</span></p></div>","PeriodicalId":100275,"journal":{"name":"Clinical Queries: Nephrology","volume":"3 2","pages":"Pages 57-72"},"PeriodicalIF":0.0000,"publicationDate":"2014-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.cqn.2014.06.001","citationCount":"1","resultStr":"{\"title\":\"Genetic aspects of familial focal segmental glomerulosclerosis\",\"authors\":\"Suraksha Agrawal ,&nbsp;Swayam Prakash ,&nbsp;Raj Kumar Sharma\",\"doi\":\"10.1016/j.cqn.2014.06.001\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p><span>Focal Segmental Glomerulosclerosis (FSGS) participates in different clinical presentations therefore involved in underlying pathophysiological etiologies. Numerous reports have proposed that vulnerability to develop FSGS has an important genetic component. These studies comprise familial aggregation, differences in the incidence of FSGS between different ethnic groups, and </span>segregation analysis<span>. Genetic methods have been used to classify genes that contribute towards genetic predisposition. Various studies revealed the precise role of “candidate genes”, which may cause FSGS with different pathogenesis. New studies to assess the role of associated genes have shown contradictory results. These results may be due to the fact that some of the previously reported genes may play only a moderate role. Presently genome wide studies have been carried out and these studies have contributed in finding out the location chromosomal positions. Interestingly novel, unrecognized genes to FSGS have been found. We have focused on different genetic studies including exact role and function of these genes on FSGS and have discussed the strength and weaknesses of these studies. Understanding of the development of FSGS may track future therapies and outcomes.</span></p></div>\",\"PeriodicalId\":100275,\"journal\":{\"name\":\"Clinical Queries: Nephrology\",\"volume\":\"3 2\",\"pages\":\"Pages 57-72\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2014-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/j.cqn.2014.06.001\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Queries: Nephrology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S221194771400020X\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Queries: Nephrology","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S221194771400020X","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 1

摘要

局灶节段性肾小球硬化(FSGS)参与不同的临床表现,因此涉及潜在的病理生理病因。许多报告提出,易患FSGS具有重要的遗传成分。这些研究包括家族聚集,不同种族间FSGS发病率的差异,以及分离分析。遗传方法已被用来对导致遗传倾向的基因进行分类。各种研究揭示了“候选基因”的确切作用,这些基因可能导致FSGS的不同发病机制。评估相关基因作用的新研究显示出相互矛盾的结果。这些结果可能是由于一些先前报道的基因可能只发挥了适度的作用。目前已经开展了全基因组研究,这些研究有助于找到染色体位置的位置。有趣的是,已经发现了新的、未被识别的FSGS基因。我们重点介绍了不同的基因研究,包括这些基因在FSGS中的确切作用和功能,并讨论了这些研究的优缺点。了解FSGS的发展可以追踪未来的治疗方法和结果。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
Genetic aspects of familial focal segmental glomerulosclerosis

Focal Segmental Glomerulosclerosis (FSGS) participates in different clinical presentations therefore involved in underlying pathophysiological etiologies. Numerous reports have proposed that vulnerability to develop FSGS has an important genetic component. These studies comprise familial aggregation, differences in the incidence of FSGS between different ethnic groups, and segregation analysis. Genetic methods have been used to classify genes that contribute towards genetic predisposition. Various studies revealed the precise role of “candidate genes”, which may cause FSGS with different pathogenesis. New studies to assess the role of associated genes have shown contradictory results. These results may be due to the fact that some of the previously reported genes may play only a moderate role. Presently genome wide studies have been carried out and these studies have contributed in finding out the location chromosomal positions. Interestingly novel, unrecognized genes to FSGS have been found. We have focused on different genetic studies including exact role and function of these genes on FSGS and have discussed the strength and weaknesses of these studies. Understanding of the development of FSGS may track future therapies and outcomes.

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
自引率
0.00%
发文量
0
期刊最新文献
Distal renal tubular acidosis with hypokalemic paralysis as primary presentation of Sjogren's syndrome without sicca symptoms: An unusual case presentation Tubular ectasia of rete testis – A diagnostic dilemma Duplex Doppler ultrasound for detection of significant renal artery stenosis in transplant kidney with end to side arterial anastomosis A rare cause of low back pain: A report of presacral schwannoma Imaging of forgotten indwelling D.J. stent with encrustment
×
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
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 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 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1