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Genome-wide association study identifies new susceptible loci of IgA nephropathy in Koreans.
BMC Medical Genomics ( IF 2.1 ) Pub Date : 2019-08-19 , DOI: 10.1186/s12920-019-0568-6
Kyung Hwan Jeong 1 , Jin Sug Kim 1 , Yu Ho Lee 1 , Yang Gyun Kim 1 , Ju-Young Moon 1 , Su Kang Kim 2 , Sun Woo Kang 3 , Tae Hee Kim 3 , Sang Ho Lee 1 , Yeong Hoon Kim 3 ,
Affiliation  

BACKGROUND Immunoglobulin A nephropathy (IgAN) is the most common primary glomerulonephritis worldwide. Recent evidence suggests that genetic factors are related to the pathogenesis of IgAN. We conducted a genome-wide association study (GWAS) to identify novel genetic susceptibility loci for IgAN in a Korean population. METHODS We enrolled 188 biopsy-confirmed IgAN cases and 455 healthy controls for the discovery stage and explored associations between IgAN and single nucleotide polymorphisms (SNPs) using a customized DNA chip. The significant SNPs from the discovery samples were then selected for replication in an independent cohort with 310 biopsy-confirmed IgAN cases and 438 healthy controls. RESULTS In the first stage, two SNPs (rs10172700 in LOC105373592 and rs2296136 in ANKRD16) were selected for further association analysis in the next stage. In the replication cohort, rs2296136 in ANKRD16 was significantly associated with IgAN (odds ratio [OR] = 1.40, 95% confidence interval [CI] 0.99-1.98, p = 0.05 in log-additive model, OR = 1.55, 95% CI = 1.06--2.27, p = 0.02 in dominant model, and OR = 0.70, 95% CI = 0.17--2.84, p = 0.62 in recessive model). rs2296136 in ANKRD16 also showed a significant association with IgAN in the entire study population combining GWAS and replication study (p = 0.0045 in log-additive model, p = 0.0027 in dominant model, and p = 0.76 in recessive model). CONCLUSIONS The SNPs identified in the present study could be good candidate markers for predicting IgAN in Koreans, although further experimental validation is needed.

中文翻译:

全基因组关联研究确定了韩国人中IgA肾病的新易感基因座。

背景技术免疫球蛋白A肾病(IgAN)是全世界最常见的原发性肾小球肾炎。最近的证据表明遗传因素与IgAN的发病机制有关。我们进行了全基因组关联研究(GWAS),以鉴定韩国人群中IgAN的新型遗传易感基因座。方法我们纳入了188例活检确认的IgAN病例和455个健康对照作为发现阶段,并使用定制的DNA芯片探索了IgAN与单核苷酸多态性(SNP)之间的关联。然后,从一个发现310名活检证实的IgAN病例和438个健康对照的独立队列中,选择来自发现样品的重要SNP进行复制。结果在第一阶段,在下一阶段中,选择了两个SNP(LOC105373592中的rs10172700和ANKRD16中的rs2296136)进行进一步的关联分析。在复制队列中,ANKRD16中的rs2296136与IgAN显着相关(比值比[OR] = 1.40,95%置信区间[CI] 0.99-1.98,p = 0.05,在对数加法模型中,OR = 1.55,95%CI = 1.06--2.27,在显性模型中p = 0.02,在OR = 0.70,隐性模型中95%CI = 0.17--2.84,p = 0.62)。在结合GWAS和复制研究的整个研究人群中,ANKRD16中的rs2296136也显示出与IgAN的显着关联(对数加性模型中p = 0.0045,显性模型中p = 0.0027,而隐性模型中p = 0.76)。结论尽管需要进一步的实验验证,本研究中鉴定出的SNPs可能是预测韩国人IgAN的良好候选标记。在复制队列中,ANKRD16中的rs2296136与IgAN显着相关(对数加成模型中优势比[OR] = 1.40,95%置信区间[CI] 0.99-1.98,p = 0.05,OR = 1.55,95%CI = 1.06--2.27,在显性模型中p = 0.02,在OR = 0.70,隐性模型中95%CI = 0.17--2.84,p = 0.62)。在结合GWAS和复制研究的整个研究人群中,ANKRD16中的rs2296136也显示出与IgAN的显着关联(对数加性模型中p = 0.0045,显性模型中p = 0.0027,而隐性模型中p = 0.76)。结论尽管需要进一步的实验验证,本研究中鉴定出的SNPs可能是预测韩国人IgAN的良好候选标记。在复制队列中,ANKRD16中的rs2296136与IgAN显着相关(对数加成模型中优势比[OR] = 1.40,95%置信区间[CI] 0.99-1.98,p = 0.05,OR = 1.55,95%CI = 1.06--2.27,在显性模型中p = 0.02,在OR = 0.70,隐性模型中95%CI = 0.17--2.84,p = 0.62)。在结合GWAS和复制研究的整个研究人群中,ANKRD16中的rs2296136也显示出与IgAN的显着关联(对数加性模型中p = 0.0045,显性模型中p = 0.0027,而隐性模型中p = 0.76)。结论本研究中鉴定出的SNPs可能是预测韩国人IgAN的良好候选标记,尽管还需要进一步的实验验证。在对数加法模型中p = 0.05,在优势模型中OR = 1.55,95%CI = 1.06--2.27,p = 0.02,在隐性模型中OR = 0.70,95%CI = 0.17--2.84,p = 0.62) 。在结合GWAS和复制研究的整个研究人群中,ANKRD16中的rs2296136也显示出与IgAN的显着关联(对数加性模型中p = 0.0045,显性模型中p = 0.0027,而隐性模型中p = 0.76)。结论尽管需要进一步的实验验证,本研究中鉴定出的SNPs可能是预测韩国人IgAN的良好候选标记。在对数加法模型中p = 0.05,在优势模型中OR = 1.55,95%CI = 1.06--2.27,p = 0.02,在隐性模型中OR = 0.70,95%CI = 0.17--2.84,p = 0.62) 。在结合GWAS和复制研究的整个研究人群中,ANKRD16中的rs2296136也显示出与IgAN的显着关联(对数加性模型中p = 0.0045,显性模型中p = 0.0027,而隐性模型中p = 0.76)。结论本研究中鉴定出的SNPs可能是预测韩国人IgAN的良好候选标记,尽管还需要进一步的实验验证。在结合GWAS和复制研究的整个研究人群中,ANKRD16中的rs2296136也显示出与IgAN的显着关联(对数加性模型中p = 0.0045,显性模型中p = 0.0027,而隐性模型中p = 0.76)。结论尽管需要进一步的实验验证,本研究中鉴定出的SNPs可能是预测韩国人IgAN的良好候选标记。在结合GWAS和复制研究的整个研究人群中,ANKRD16中的rs2296136也显示出与IgAN的显着关联(对数加性模型中p = 0.0045,显性模型中p = 0.0027,而隐性模型中p = 0.76)。结论尽管需要进一步的实验验证,本研究中鉴定出的SNPs可能是预测韩国人IgAN的良好候选标记。
更新日期:2019-08-19
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