Zhang Daofa, Xie Maowei, Yang Xiaohong, Zhang Yin, Su Yan, Wang Yanni, Huang Haiyang, Han Hui, Li Wenning, Fu Keying, Su Huiluan, Xu Wentan, Han Yeguang, Wang Ru, Zhang Pei, Wu Wei, Huang Yun, Chen Daojun, Jin Tianbo, Wei Jiali
Department of Nephrology, Hainan General Hospital, Haikou, Hainan 570311, China.
Central Laboratory, Hainan General Hospital, Haikou, Hainan 570311, China.
Oncotarget. 2017 May 4;8(42):71750-71758. doi: 10.18632/oncotarget.17603. eCollection 2017 Sep 22.
IgA nephropathy (IgAN) is the most common form of primary glomerulonephritis worldwide, but etiology and pathogenesis continue to be poorly understood. Polymorphisms in the cytokine genes may play a role in the etiology and pathogenesis of IgAN. The incidence of different between diverse ethnic groups suggested important genetic influences on its pathogenesis. We genotype 10 single nucleotide polymorphisms (SNPs) in and gene using Sequenom Mass-ARRAY technology from 417 IgAN patients and 463 healthy controls of the Chinese Han population. We evaluated these SNPs associated with IgAN utilising the chi-square tests and genetic model analysis. We identified that the minor alleles of rs16944 ("A"), rs1800796 ("G") in were involved in an increasingly risk of IgAN in allelic model analysis, respectively. The rs16944 in and rs1800796 in were associated with 1.23-fold (95% CI, 1.02-1.48, P = 0.031) and 1.33-fold (95% CI, 1.11-1.66, P = 0.003) increases in the risk of developing IgAN, respectively. There was only rs1800796 still correlated with IgAN in the allelic model after adjustment by age and gender and the Bonferroni correction. In addition, Haplotype GA G ( = 0.037) and G A C ( = 0.042) in were considered to be associated with increased IgAN risk. This study verified the genetic variants polymorphisms contributed to IgAN susceptibility in a Chinese Han population. Although we identified SNPs susceptibility, however, replication studies and functional research are required to confirm the genetic contribution in IgAN.
IgA肾病（IgAN）是全球原发性肾小球肾炎最常见的形式，但病因和发病机制仍了解甚少。细胞因子基因多态性可能在IgAN的病因和发病机制中起作用。不同种族之间的发病率差异表明其发病机制受重要的遗传影响。我们使用Sequenom Mass-ARRAY技术对417例IgAN患者和463例中国汉族健康对照者的白细胞介素（IL）-6和IL-10基因中的10个单核苷酸多态性（SNP）进行基因分型。我们利用卡方检验和遗传模型分析评估这些与IgAN相关的SNP。我们发现在等位基因模型分析中，IL-6基因中rs16944（“A”）、rs1800796（“G”）的次要等位基因分别与IgAN风险增加有关。IL-6基因中的rs16944和IL-10基因中的rs1800796分别与患IgAN风险增加1.23倍（95%可信区间，1.02-1.48，P = 0.031）和1.33倍（95%可信区间，1.11-1.66，P = 0.003）相关。在按年龄和性别调整以及Bonferroni校正后，等位基因模型中只有rs1800796仍与IgAN相关。此外，IL-6基因中的单倍型GAG（P = 0.037）和GAC（P = 0.042）被认为与IgAN风险增加有关。本研究证实白细胞介素基因变异多态性在中国汉族人群中导致IgAN易感性。尽管我们鉴定出了SNP易感性，但仍需要重复研究和功能研究来证实其在IgAN中的遗传作用。
