The Genetics of IgA Nephropathy: An Overview from China
The Genetics of IgA Nephropathy: An Overview from China
复制标题
IgA 肾病的遗传学：中国概况
DOI：
10.1159/000381740
复制
发表时间：
2015-04
期刊：
影响因子：
3.7
通讯作者：
Zhang Hong
中科院分区：
文献类型：
--
作者：
Zhu Li;Zhang Hong
背景：伊加肾病（IgAN）是世界范围内最常见的原发性肾小球肾炎。高度可变的疾病患病率数据和家族聚集性的报告表明遗传因素参与IgAN。由于我国是IgAN的高发地区，我国学者对IgAN的遗传结构进行了大量的研究。本文综述了近年来IgAN的遗传学研究进展，重点介绍了国内的研究情况。早期的关联研究遵循基于群体的设计，并专注于单个变体或单个基因。随后，中国学者应用的基于家系的设计和遗传相互作用揭示了MEGSIN和糖基转移酶基因的变异与IgAN的关联。最近，全基因组关联研究（GWAS）已被用于确定IgAN的多个易感基因座，并且在大多数情况下，它们已在中国人群中得到验证。关键信息：应该做出更多努力来探索GWAS鉴定的变异的潜在遗传机制。在IgAN的未来研究中，系统遗传学方法的应用将是有益的和富有成效的。来自东方和西方的事实：亚洲报告的IgAN患病率高于欧洲和北美。然而，在分析东西方的数据时，应考虑到使用活检诊断IgAN的差异。在欧洲，IgAN对男性的影响多于女性;亚洲的情况并非如此。家族性IgAN在欧洲的报告频率高于亚洲。在欧洲，家族性IgAN在南部人群中比在北方人群中更明显。血清IgA 1 O-糖基化模式的变化是东西方IgAN患者的常见发现。在中国和欧洲患者中已经报道了编码酶C1 GALT 1的基因内的SNP。然而，没有证据表明欧洲人C1 GALT 1伴侣cosmc基因多态性的作用。在东方和西方的人群中已经观察到HLA基因家族的遗传变异。在亚洲患者中观察到IgAN与TAP 1/PSMB和DEFA基因变体之间的关联，但在西方患者中未观察到。与血管紧张素转换酶基因的关联仅见于亚洲患者。
Background: IgA nephropathy (IgAN) is the most common type of primary glomerulonephritis worldwide. Highly variable data for disease prevalence and reports of familial clustering suggest the involvement of genetic factors in IgAN. As China is an area with a high prevalence of IgAN, Chinese scholars have made a considerable effort to reveal the underlying genetic architecture of IgAN. Summary: In this review, we summarize recent achievements in the genetic studies of IgAN, focusing mainly on studies undertaken in China. Early association studies followed a population-based design and focused on a single variant or single gene. Subsequently, family-based designs and genetic interactions applied by Chinese scholars revealed an association of variants in MEGSIN and glycosyltransferase genes with IgAN. Recently, genome-wide association studies (GWAS) have been used to identify multiple susceptibility loci for IgAN, and they have, for the most part, been validated in Chinese populations. Key Messages: More efforts should be made to explore the underlying genetic mechanisms of GWAS-identified variants. In future studies in IgAN, the application of a systems genetics approach would be helpful and productive. Facts from East and West: The reported prevalence of IgAN is higher in Asia than in Europe and North America. However, differences in use of biopsy for the diagnosis of IgAN should be taken into account in analyzing data from both East and West. In Europe, IgAN affects men more frequently than women; this is not the case in Asia. Familial IgAN has been more frequently reported in Europe than in Asia. Within Europe, familial IgAN is more evident in southern than in northern populations. Changes in the pattern of serum IgA1 O-glycosylation is a common finding in IgAN patients in the East and West. SNPs within the gene coding for the enzyme C1GALT1 have been reported in Chinese and European patients. However, there is no evidence for a role of gene polymorphism of the C1GALT1 chaperone cosmc in Europeans. Genetic variants in the HLA gene family have been observed in populations from the East and West. Associations between IgAN and variants of the TAP1/PSMB and DEFA genes were observed in Asian but not in Western patients. Association with the angiotensin-converting enzyme gene was seen only in Asian patients.
登录
查看更多内容
DOI：
10.1093/oxfordjournals.qjmed.a068143
发表时间：
1987-09
期刊：
The Quarterly journal of medicine
影响因子：
--
作者：
Giuseppe D'Amico
通讯作者：
Giuseppe D'Amico
单基因座和多基因座相互作用对南方汉族 IgA 肾病临床表现的影响
DOI：
10.1093/ndt/gft468
发表时间：
2014-03
期刊：
Nephrol Dial Transplant.
影响因子：
--
作者：
Sun Y;Fu Y;Yu X;Li M
通讯作者：
Li M
IgA肾病的新风险基因座的发现暗示了与肠道病原体免疫有关的基因。
影响因子：
30.8
作者：
Kiryluk, Krzysztof;Li, Yifu;Scolari, Francesco;Sanna-Cherchi, Simone;Choi, Murim;Verbitsky, Miguel;Fasel, David;Lata, Sneh;Prakash, Sindhuri;Shapiro, Samantha;Fischman, Clara;Snyder, Holly J.;Appel, Gerald;Izzi, Claudia;Viola, Battista Fabio;Dallera, Nadia;Del Vecchio, Lucia;Barlassina, Cristina;Salvi, Erika;Bertinetto, Francesca Eleonora;Amoroso, Antonio;Savoldi, Silvana;Rocchietti, Marcella;Amore, Alessandro;Peruzzi, Licia;Coppo, Rosanna;Salvadori, Maurizio;Ravani, Pietro;Magistroni, Riccardo;Ghiggeri, Gian Marco;Caridi, Gianluca;Bodria, Monica;Lugani, Francesca;Allegri, Landino;Delsante, Marco;Maiorana, Mariarosa;Magnano, Andrea;Frasca, Giovanni;Boer, Emanuela;Boscutti, Giuliano;Ponticelli, Claudio;Mignani, Renzo;Marcantoni, Carmelita;Di Landro, Domenico;Santoro, Domenico;Pani, Antonello;Polci, Rosaria;Feriozzi, Sandro;Chicca, Silvana;Galliani, Marco;Gigante, Maddalena;Gesualdo, Loreto;Zamboli, Pasquale;Battaglia, Giovanni Giorgio;Garozzo, Maurizio;Maixnerova, Dita;Tesar, Vladimir;Eitner, Frank;Rauen, Thomas;Floege, Juergen;Kovacs, Tibor;Nagy, Judit;Mucha, Krzysztof;Paczek, Leszek;Zaniew, Marcin;Mizerska-Wasiak, Malgorzata;Roszkowska-Blaim, Maria;Pawlaczyk, Krzysztof;Gale, Daniel;Barratt, Jonathan;Thibaudin, Lise;Berthoux, Francois;Canaud, Guillaume;Boland, Anne;Metzger, Marie;Panzer, Ulf;Suzuki, Hitoshi;Goto, Shin;Narita, Ichiei;Caliskan, Yasar;Xie, Jingyuan;Hou, Ping;Chen, Nan;Zhang, Hong;Wyatt, Robert J.;Novak, Jan;Julian, Bruce A.;Feehally, John;Stengel, Benedicte;Cusi, Daniele;Lifton, Richard P.;Gharavi, Ali G.
通讯作者：
Gharavi, Ali G.
影响因子：
2.9
作者：
Weiqiang Zhong;Zhongliang Huang;Yong Wu;Zongpei Jiang;Tian-biao Zhou
通讯作者：
Weiqiang Zhong;Zhongliang Huang;Yong Wu;Zongpei Jiang;Tian-biao Zhou
影响因子：
13.6
作者：
Feehally, John;Farrall, Martin;Ratcliffe, Peter J.
通讯作者：
Ratcliffe, Peter J.