Mo Ji-Su, Chae Soo-Cheon
Department of Pathology, Wonkwang University, School of Medicine, Iksan, Chon-buk, South Korea.
Arch Rheumatol. 2018 Jan 29;33(4):424-430. doi: 10.5606/ArchRheumatol.2018.6644. eCollection 2018 Dec.
This study aims to investigate whether bone morphogenetic protein 6 (BMP6) single-nucleotide polymorphism (SNP) is associated with susceptibility to systematic lupus erythematosus (SLE).
We analyzed the genotype and allele frequencies of BMP6 SNPs using genomic deoxyribonucleic acid isolated from 119 SLE patients (9 males, 110 females; mean age 36.4 years; range 19 to 59 years) and 509 healthy controls (323 males, 186 females; mean age 42.1 years; range 19 to 61 years). Genomic deoxyribonucleic acid was extracted from peripheral blood leukocytes using a standard phenol-chloroform method or by using a genomic deoxyribonucleic acid extraction kit. Erythrocyte sedimentation rate, C-reactive protein, and antinuclear antibody levels of SLE patients were recorded.
Our results showed that the genotype frequencies of rs17557 and rs9505273 for BMP6 in SLE patients significantly differed from those of the control group (p=0.01 and p=0.04, respectively). The genotype frequencies of the rs17557 and rs9505273 for BMP6 in female SLE patients were also significantly different from those in female healthy controls (p=0.04 and p=0.03, respectively). We also revealed that the distribution of the main haplotypes of BMP6 SNPs in SLE patients was significantly different from their distribution in healthy controls.
These results suggested that SNPs in BMP6 might be associated with susceptibility to SLE and that haplotypes of BMP6 polymorphisms might represent useful genetic markers for SLE.
本研究旨在调查骨形态发生蛋白6（BMP6）单核苷酸多态性（SNP）是否与系统性红斑狼疮（SLE）易感性相关。
我们使用从119例SLE患者（9例男性，110例女性；平均年龄36.4岁；范围19至59岁）和509例健康对照者（323例男性，186例女性；平均年龄42.1岁；范围19至61岁）分离的基因组脱氧核糖核酸分析BMP6 SNPs的基因型和等位基因频率。采用标准酚 - 氯仿法或使用基因组脱氧核糖核酸提取试剂盒从外周血白细胞中提取基因组脱氧核糖核酸。记录SLE患者的红细胞沉降率、C反应蛋白和抗核抗体水平。
我们的结果显示，SLE患者中BMP6的rs17557和rs9505273基因型频率与对照组显著不同（分别为p = 0.01和p = 0.04）。女性SLE患者中BMP6的rs17557和rs9505273基因型频率也与女性健康对照者显著不同（分别为p = 0.04和p = 0.03）。我们还发现，SLE患者中BMP6 SNPs主要单倍型的分布与健康对照者的分布显著不同。
这些结果表明，BMP6中的SNP可能与SLE易感性相关，并且BMP6多态性的单倍型可能是SLE有用的遗传标记。
