Zhang Mingwang, Chen Fangru, Zhang Dongmei, Zhai Zhifang, Hao Fei
1 Department of Dermatology, Southwest Hospital, Third Military Medical University , Chongqing, China .
2 Department of Dermatology, Affiliated Hospital of Guilin Medical College , Guilin, China .
Genet Test Mol Biomarkers. 2016 Aug;20(8):451-8. doi: 10.1089/gtmb.2015.0289. Epub 2016 Jun 30.
The gene SLC15A4 (solute carrier family 15 [oligopeptide transporter], member 4) has been reported as contributing to the pathogenesis of systemic lupus erythematosus (SLE). We performed a case-control replication study to investigate further the association between single-nucleotide polymorphisms (SNPs) in the SLC15A4 gene and systemic SLE in a Han Chinese population.
In Han Chinese SLE patients and healthy individuals (n = 355, 375, respectively), 18 SNPs in the SLC15A4 gene were genotyped using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry and TaqMan SNP genotyping assays. Analyses of allele frequencies and genotypes using codominant, dominant, and recessive models were conducted, as well as a linkage disequilibrium analysis. P values < 0.05 were considered significant.
Allele frequencies of five of the analyzed SNPs were significantly associated with SLE. Under a codominant model the genotype frequencies of rs3765108 AG and rs7308691 AT were significantly higher in the SLE group than the control group (p = 0.019, 0.049, respectively). Under a dominant model the rs1385374 (TT+CT) SNP carried a higher risk of SLE than (CC) (p = 0.042). One SLC15A4 haplotype (TA), which consists of 2 SNPs (rs959989 and rs983492), was associated with SLE (p = 0.024).
Our study determined that five SNPs (rs959989, rs1385374, rs983492, rs12298615, and rs10847697) are associated with SLE. Thus, SLC15A4 may be important in the pathogenesis of SLE in Han Chinese patients.
有报道称溶质载体家族15（寡肽转运体）成员4基因（SLC15A4）与系统性红斑狼疮（SLE）的发病机制有关。我们开展了一项病例对照重复研究，以进一步探究SLC15A4基因单核苷酸多态性（SNP）与中国汉族人群系统性SLE之间的关联。
在中国汉族SLE患者和健康个体（分别为355例和375例）中，采用基质辅助激光解吸/电离飞行时间质谱和TaqMan SNP基因分型检测法对SLC15A4基因中的18个SNP进行基因分型。使用共显性、显性和隐性模型对等位基因频率和基因型进行分析，并进行连锁不平衡分析。P值<0.05被视为具有统计学意义。
所分析的5个SNP的等位基因频率与SLE显著相关。在共显性模型下，SLE组中rs3765108 AG和rs7308691 AT的基因型频率显著高于对照组（p分别为0.019、0.049）。在显性模型下，rs1385374（TT+CT）SNP携带SLE的风险高于（CC）（p=0.042）。由2个SNP（rs959989和rs983492）组成的一个SLC15A4单倍型（TA）与SLE相关（p=0.024）。
我们的研究确定了5个SNP（rs959989、rs1385374、rs983492、rs12298615和rs10847697）与SLE相关。因此，SLC15A4在中国汉族SLE患者的发病机制中可能具有重要作用。
