Zhang D D, He F, Liu H T, Hao F, Zhu J
Sichuan Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Sichuan, China.
School of Life Science and Biotechnology, Mianyang Normal University, Sichuan, China.
Genet Mol Res. 2015 Oct 30;14(4):14162-8. doi: 10.4238/2015.October.29.38.
The function of rare genotypes encoding defective variants of sialic acid acetylesterase (SIAE) in some autoimmune diseases, including rheumatoid arthritis (RA), is ambiguous. We determined whether mutations in the SIAE gene are responsible for RA in a Han Chinese population.DNA was prepared from the venous leukocytes of 444 RA patients and 647 normal controls. The coding regions and adjacent intron sequences of SIAE were amplified by polymerase chain reaction. The products were then subjected to sequencing analysis. The detected variations were further evaluated in the normal controls and available family members by sequencing. Seven variants of RA were identified in this study, including four known single nucleotide polymorphisms SNPs (rs7941327, rs7941523, rs1942663, and rs12282107) and three novel SNPs. The genomic positions of the three novel SNPs are chr11:124013712, chr11:124023268, and chr11:124044505. No significant differences in the seven SNPs of SIAE were observed between patients with RA and controls in this cohort (P > 0.05). Three novel variations and four known SNPs in SIAE were detected in the Chinese RA patients and normal controls. Our results imply that SIAE does not play a major role in RA in this population.
在包括类风湿关节炎（RA）在内的一些自身免疫性疾病中，编码唾液酸乙酰酯酶（SIAE）缺陷变体的罕见基因型的作用尚不明确。我们确定了SIAE基因中的突变是否与中国汉族人群的类风湿关节炎有关。从444例类风湿关节炎患者和647例正常对照的静脉白细胞中提取DNA。通过聚合酶链反应扩增SIAE的编码区和相邻内含子序列。然后对产物进行测序分析。通过测序在正常对照和现有家庭成员中进一步评估检测到的变异。本研究中鉴定出7个类风湿关节炎变体，包括4个已知的单核苷酸多态性（SNP，rs7941327、rs7941523、rs1942663和rs12282107）和3个新的SNP。这3个新SNP的基因组位置分别为chr11:124013712、chr11:124023268和chr11:124044505。在该队列中，类风湿关节炎患者和对照组之间未观察到SIAE的7个SNP有显著差异（P>0.05）。在中国类风湿关节炎患者和正常对照中检测到SIAE的3个新变异和4个已知SNP。我们的结果表明，SIAE在该人群的类风湿关节炎中不发挥主要作用。
