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Association of-27T > C and its haplotype at the putative promoter for IgA-specific receptor gene with IgA nephropathy among the Chinese Han population 期刊论文

编号：

8f705b33-56e2-4fc1-a383-176cf7ebdac1
作者：

Huang, Weijun^[1,2] Gu, Hongbiao^[3] Li, Ru^[4] Lou, Tanqi^[5] Zhang, Jun^[5] Shi, Wei^[6] Ye, Zhiming^[6] Zhou, Yan^[7,8] Li, Caixia^[9] Xiong, Shiyi^[10] Li, Li^[11] Wu, Changyou^[11] Leung, Joseph C. K.^[12] Lam, Man F.^[12] Lai, Kar N.^[12] Wang, Yiming^[1,2]
语种：

English
期刊：

NEPHROLOGY DIALYSIS TRANSPLANTATION ISSN：0931-0509 2011 年 26 卷 8 期 (2537 - U1504) ; AUG
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关键词：

association FCAR IgA nephropathy promoter susceptibility
摘要：

Background. One-third to half of IgA nephropathy (IgAN) patients have raised serum IgA levels. Decreased clearance of IgA/IgA complex has been observed in IgAN patients. FCAR codes for IgA-specific receptor and plays an important role in IgA metabolism. Previous small sample-sized studies reported controversial findings in its association with IgAN. Methods. We re-sequenced the FCAR in 107 IgAN patients and 112 controls. Association of -27T/C and their haplotypes were performed in 606 patients versus 606 controls, its two independent subsets: 293 single patients with family members and 313 cases versus 606 controls. Functional impact of -27T>C and their haplotypes were analyzed by bioinformatics, allelic differential expression and luciferase activity assays. Cell surface FCAR density between -27T/C heterozygous patients and -27T/T homozygous controls was assessed by flow cytometry. Results. -27T>C, on the consensus TATA box of transcription factor-binding motif in the putative promoter of the gene was the only variation identified in all coding, splice-site and known protein-binding sequence in re-sequencing. -27C and its haplotype were associated with IgAN (P = 0.0034/0.0013, 0.0099/0.0054, 0.0129/0.0076 and 0.00039/0.00014 in 606 cases versus 606 controls, family-based study, 313 cases versus 606 controls and meta-analysis, respectively). Bioinformatics predicted 2 bp binding changes by -27C. Allelic differential expression and luciferase activity assays showed a reduced expression/activity by the associated haplotype/allele (P < 0.001). -27T/C heterozygous patients had a lower receptor density on cell surface compared to -27T/T homozygous controls (P < 0.001). Conclusions. Our results provide evidence for genetic variation at the putative promoter region of FCAR conferring susceptibility to IgAN, suggesting -27C and its haplotype may be causative for the susceptibility among the Chinese Han population.
推荐引用方式
GB/T 7714：

Huang Weijun,Gu Hongbiao,Li Ru, et al. Association of-27T > C and its haplotype at the putative promoter for IgA-specific receptor gene with IgA nephropathy among the Chinese Han population [J].NEPHROLOGY DIALYSIS TRANSPLANTATION,2011,26(8):2537-U1504.
APA：

Huang Weijun,Gu Hongbiao,Li Ru,Lou Tanqi,&Wang Yiming.(2011).Association of-27T > C and its haplotype at the putative promoter for IgA-specific receptor gene with IgA nephropathy among the Chinese Han population .NEPHROLOGY DIALYSIS TRANSPLANTATION,26(8):2537-U1504.
MLA：

Huang Weijun, et al. "Association of-27T > C and its haplotype at the putative promoter for IgA-specific receptor gene with IgA nephropathy among the Chinese Han population" .NEPHROLOGY DIALYSIS TRANSPLANTATION 26,8(2011):2537-U1504.

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