Gao Jie, Wang Meng, Wei Linting, Niu Dan, Wei Jiali, Ou Yan, Jin Tianbo, Yu Qiaoling, Liu Xinghan, Tian Tian, Dai Cong, Fu Rongguo, Wang Li
Department of Nephrology, Second Affiliated Hospital of Xi'an, Xi'an, China.
Department of Oncology, Second Affiliated Hospital of Xi'an, Xi'an, China.
Kidney Blood Press Res. 2017;42(3):608-616. doi: 10.1159/000481421. Epub 2017 Sep 25.
BACKGROUND/AIMS: Endothelial nitric oxide synthase (eNOS) is one of the most important enzymes for producting nitric oxide (NO), which regulate the function of many organs and cells. The single nucleotide polymorphisms (SNPs) of eNOS were found to be associated with many kidney diseases. However, it is lack of relevant studies to evaluate the associations between eNOS polymorphisms and immunoglobulin A nephropathy (IgAN). This case-control study aimed to evaluate the relationship between eNOS polymorphisms and IgAN.
We recruited 351 IgAN patients and 310 age- and sex-matched healthy controls from Northwest China. Sequenom MassARRAY was used to detect the genotypes of two common eNOS SNPs (rs1799983 and rs2070744). Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated by the Chi square test to evaluate the associations between eNOS and IgAN. Phase 2.1 was used to conduct haplotype analysis.
In the overall analysis, we found that the rs1799983 polymorphism was associated with a decreased risk of IgAN (G/T vs. G/G: OR=0.57, 95%CI=0.34-0.96; G/T+T/T vs. G/G: OR=0.52, 95%CI=0.31-0.86; G/T vs.
G/G-T/T: OR=0.60, 95%CI=0.36-0.99; Log-additive model: OR=0.48, 95%CI=0.30-0.78). Haplotype analysis indicated that Trs1799983Crs2070744 is a protective factor against IgAN (OR=0.62, 95%CI=0.42--0.92). However, no significant differences were found between the two SNPs (rs1799983 and rs2070744) and clinical features (age, sex, blood pressure, and Lee's grade) of IgAN.
The eNOS gene rs1799983 polymorphism and Trs1799983Crs2070744 haplotype may reduce the risk of IgAN in Chinese populations.
背景/目的：内皮型一氧化氮合酶（eNOS）是产生一氧化氮（NO）的最重要的酶之一，它调节许多器官和细胞的功能。已发现eNOS的单核苷酸多态性（SNP）与许多肾脏疾病有关。然而，缺乏评估eNOS多态性与免疫球蛋白A肾病（IgAN）之间关联的相关研究。本病例对照研究旨在评估eNOS多态性与IgAN之间的关系。
我们从中国西北部招募了351例IgAN患者和310例年龄和性别匹配的健康对照。使用Sequenom MassARRAY检测两种常见eNOS SNP（rs1799983和rs2070744）的基因型。通过卡方检验计算比值比（OR）和95%置信区间（95%CI），以评估eNOS与IgAN之间的关联。使用Phase 2.1进行单倍型分析。
在总体分析中，我们发现rs1799983多态性与IgAN风险降低相关（G/T vs. G/G：OR = 0.57，95%CI = 0.34 - 0.96；G/T + T/T vs. G/G：OR = 0.52，95%CI = 0.31 - 0.86；G/T vs. G/G - T/T：OR = 0.60，95%CI = 0.36 - 0.99；对数加性模型：OR = 0.48，95%CI = 0.30 - 0.78）。单倍型分析表明，Trs1799983Crs2070744是预防IgAN的保护因素（OR = 0.62，95%CI = 0.42 - 0.92）。然而，在这两个SNP（rs1799983和rs2070744）与IgAN的临床特征（年龄、性别、血压和Lee分级）之间未发现显著差异。
eNOS基因rs1799983多态性和Trs1799983Crs2070744单倍型可能降低中国人群患IgAN的风险。
