Association of ITGAX and ITGAM gene polymorphisms with susceptibility to IgA nephropathy
Association of ITGAX and ITGAM gene polymorphisms with susceptibility to IgA nephropathy
复制标题
ITGAX和ITGAM基因多态性与IgA肾病易感性的关系
DOI：
10.1038/s10038-019-0632-2
复制
发表时间：
2019-06
影响因子：
3.5
通讯作者：
Li Ming
中科院分区：
文献类型：
--
作者：
Shi Dianchun;Zhong Zhong;Xu Ricong;Li Bin;Li Jianbo;Habib Ullah;Peng Yuan;Mao Haiping;Li Zhijian;Huang Fengxian;Yu Xueqing;Li Ming
先前的全基因组关联研究已经发现16p11.2上的ITGAX-ITGAM与伊加肾病（IgAN）显著相关。在本研究中，我们进行了一个两阶段的关联研究，纳入1700例IgA肾病和2400名对照，以进一步探讨ITGAX和ITGAM基因多态性与IgA肾病的关系。在发现阶段，选择7个单核苷酸多态性（SNPs）对1000例IgAN病例和1000例健康对照进行基因分型，并在另外700例IgAN病例和1400例健康对照中进一步验证显著的SNP。我们发现4个SNP（rs 11150619、rs 11150614、rs7190997和rs 4597342）在发现阶段显示出与IgAN易感性的潜在关联，但在多次测试后的验证阶段，只有SNP rs 11150619被进一步基因分型。结果表明，rs 11150619与合并样本中的IgAN显著相关（OR = 0.81，95%CI = 0.71-0.91，显性P = 6.68 × 10−4）。此外，与TC和CC基因型患者相比，rs 11150619 TT基因型患者的肾小球滤过率水平升高，肾小球硬化比例降低。本研究结果提示ITGAX和ITGAM基因多态性与中国汉族人群IgA肾病相关，rs 11150619-T等位基因对IgA肾病具有潜在的保护作用。
Previous genome-wide association studies have discovered significant association at ITGAX-ITGAM on 16p11.2 for IgA nephropathy (IgAN). In this study, we performed a two-stage association study that enrolled 1700 IgAN cases and 2400 controls to further investigate the relationship of ITGAX and ITGAM gene polymorphisms with IgAN. Seven single-nucleotide polymorphisms (SNPs) were selected for genotyping in 1000 IgAN cases and 1000 healthy controls in the discovery stage, and the significant SNP was further validated in additional 700 IgAN cases and 1400 healthy controls. We found that four SNPs (rs11150619, rs11150614, rs7190997, and rs4597342) showed potential associations with IgAN susceptibility in the discovery stage, but only SNP rs11150619 was further genotyped in the validation stage after multiple testing. The results indicated that rs11150619 was significantly associated with IgAN in the combined samples (OR = 0.81, 95%CI = 0.71–0.91, and dominant P = 6.68 × 10−4). Moreover, patients with TT genotype of rs11150619 exhibited increased estimated glomerular filtration rate levels and a reduced proportion of global sclerosis compared with those with TC and CC genotypes. Our results suggested that ITGAX and ITGAM gene polymorphisms were associated with IgAN in a Chinese Han population, and the rs11150619-T allele showed a potential protective role for IgAN.
登录
查看更多内容
影响因子：
14.9
作者：
Ramensky, V;Bork, P;Sunyaev, S
通讯作者：
Sunyaev, S
影响因子：
16.6
作者：
Li, Ming;Foo, Jia-Nee;Wang, Jin-Quan;Low, Hui-Qi;Tang, Xue-Qing;Toh, Kai-Yee;Yin, Pei-Ran;Khor, Chiea-Chuen;Goh, Yu-Fen;Irwan, Ishak D.;Xu, Ri-Cong;Andiappan, Anand K.;Bei, Jin-Xin;Rotzschke, Olaf;Chen, Meng-Hua;Cheng, Ching-Yu;Sun, Liang-Dan;Jiang, Geng-Ru;Wong, Tien-Yin;Lin, Hong-Li;Aung, Tin;Liao, Yun-Hua;Saw, Seang-Mei;Ye, Kun;Ebstein, Richard P.;Chen, Qin-Kai;Shi, Wei;Chew, Soo-Hong;Chen, Jian;Zhang, Fu-Ren;Li, Sheng-Ping;Xu, Gang;Tai, E. Shyong;Wang, Li;Chen, Nan;Zhang, Xue-Jun;Zeng, Yi-Xin;Zhang, Hong;Liu, Zhi-Hong;Yu, Xue-Qing;Liu, Jian-Jun
通讯作者：
Liu, Jian-Jun
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：
7
作者：
Boyle AP;Hong EL;Hariharan M;Cheng Y;Schaub MA;Kasowski M;Karczewski KJ;Park J;Hitz BC;Weng S;Cherry JM;Snyder M
通讯作者：
Snyder M
影响因子：
16.6
作者：
通讯作者：
--