GLCCI1 single nucleotide polymorphisms in pediatric nephrotic syndrome.
GLCCI1 single nucleotide polymorphisms in pediatric nephrotic syndrome.
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DOI：
10.1007/s00467-012-2197-6
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发表时间：
2012-09
影响因子：
3
通讯作者：
Schlondorff, Johannes
中科院分区：
文献类型：
--
作者：
Cheong, Hae Il;Kang, Hee Gyung;Schlondorff, Johannes
经验性类固醇治疗是小儿肾病综合征的一线治疗，但治疗反应各异。尽管存在遗传因素的证据，但类固醇反应性的预测因素很少。最近，在糖皮质激素诱导的转录物 1 基因 (GLCCI1) 的启动子区域发现了单核苷酸多态性 (SNP)，该基因影响哮喘患者的类固醇反应。 GLCCI1 被独立鉴定为一种足细胞蛋白，其缺失会破坏肾小球滤过屏障的功能。因此，我们检查了与 GLCCI1 类固醇反应性表达相关的 SNP 是否可以预测肾病综合征的类固醇反应性。对 211 名肾病综合征儿科患者和 102 名对照者进行了基因分型；在这些病例中，117 例最初对类固醇有反应，而 94 例对口服类固醇没有反应。尽管存在比较类固醇反应性和无反应性患者的小亚组与活检证明患有微小病变疾病的趋势，但各组之间没有发现统计学上的显着差异。虽然需要更大的队列来确定 GLCCI1 SNP 对肾病综合征类固醇反应性的微小影响的可能性，但与哮喘患者类固醇反应性相关的 GLCCI1 SNP 不太可能对小儿肾病综合征产生临床上可操作的影响。
Empiric steroid therapy is the first-line therapy for pediatric nephrotic syndrome, but treatment response is variable. There are few predictors of steroid-responsiveness, though evidence for genetic factors exists. Recently, single nucleotide polymorphisms (SNPs) were identified in the promoter region of glucocorticoid-induced transcript 1 gene (GLCCI1) which effect steroid-responsiveness in asthmatic patients. Independently, GLCCI1 was identified as a podocyte protein, loss of which disrupts the function of the glomerular filtration barrier. We therefore examined whether SNPs associated with the steroid-responsive expression of GLCCI1 might predict steroid-responsiveness in nephrotic syndrome. A cohort of 211 pediatric patients with nephrotic syndrome and 102 controls were genotyped; among the cases, 117 were initial steroid responders while 94 did not respond to oral steroids. No statistically significant differences were noted among the groups, though there was a trend in comparing the small subgroups of steroid-responsive and non-responsive patients with biopsy proven minimal change disease. While larger cohorts are needed to ascertain the possibility of a small effect of GLCCI1 SNPs on steroid-responsiveness of nephrotic syndrome, the GLCCI1 SNPs associated with steroid responsiveness in asthmatic patients are unlikely to have a clinically actionable impact in pediatric nephrotic syndrome.
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DOI：
10.1126/science.1193032
发表时间：
2010-08-13
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Genovese G;Friedman DJ;Ross MD;Lecordier L;Uzureau P;Freedman BI;Bowden DW;Langefeld CD;Oleksyk TK;Uscinski Knob AL;Bernhardy AJ;Hicks PJ;Nelson GW;Vanhollebeke B;Winkler CA;Kopp JB;Pays E;Pollak MR
通讯作者：
Pollak MR
DOI：
10.1056/nejmoa0911353
发表时间：
2011-09-29
期刊：
The New England journal of medicine
影响因子：
--
作者：
Tantisira KG;Lasky-Su J;Harada M;Murphy A;Litonjua AA;Himes BE;Lange C;Lazarus R;Sylvia J;Klanderman B;Duan QL;Qiu W;Hirota T;Martinez FD;Mauger D;Sorkness C;Szefler S;Lazarus SC;Lemanske RF Jr;Peters SP;Lima JJ;Nakamura Y;Tamari M;Weiss ST
通讯作者：
Weiss ST
影响因子：
8
作者：
Gipson, Debbie S.;Massengill, Susan F.;Greenbaum, Larry A.
通讯作者：
Greenbaum, Larry A.
影响因子：
64.8
作者：
Gibbs, RA;Belmont, JW;Tanaka, T
通讯作者：
Tanaka, T
影响因子：
3
作者：
Benoit, Genevieve;Machuca, Eduardo;Antignac, Corinne
通讯作者：
Antignac, Corinne