Department of Clinical Laboratory, The Affiliated Hospital of Guilin Medical University, Lequn Road No.15, Guilin, 541001, Guangxi Province, China.
Department of Clinical Laboratory, The Affiliated Hospital of Youjiang Medical University for Nationalities, Baise, Guangxi, China.
Lipids Health Dis. 2020 Apr 1;19(1):57. doi: 10.1186/s12944-020-01236-4.
Metastasis-associated lung adenocarcinoma transcript-1 (MALAT1) was aberrantly expressed in diverse diseases. Particularly in ischemic stroke (IS), the abnormal expression of MALAT1 played important roles including promotion of angiogenesis, inhibition of apoptosis and inflammation and regulation of autophagy. However, the effects of genetic variation (single nucleotide polymorphisms, SNPs) of MALAT1 on IS have rarely been explored. This study aimed to investigate whether SNPs in promoter of MALAT1 were associated with the susceptibility to IS.
A total of 316 IS patients and 320 age-, gender-, and ethnicity-matched controls were enrolled in this study. Four polymorphisms in the promoter of MALAT1 (i.e., rs600231, rs1194338, rs4102217, and rs591291) were genotyped by using a custom-by-design 48-Plex SNPscan kit.
The rs1194338 C > A variant in the promoter of MALAT1 was associated with the risk of IS (AC vs. CC: adjusted OR = 0.623, 95% CI, 0.417-0.932, P = 0.021; AA vs. CC: adjusted OR = 0.474, 95% CI, 0.226-0.991, P = 0.047; Dominant model: adjusted OR = 0.596, 95% CI, 0.406-0.874, P = 0.008; A vs. C adjusted OR = 0.658, 95% CI, 0.487-0.890, P = 0.007). The haplotype analysis showed that rs600231-rs1194338-rs4102217-rs591291 (A-C-G-C) had a 1.3-fold increased risk of IS (95% CI, 1.029-1.644, P = 0.027). Logistic regression analysis identified some independent impact factors for IS including rs1194338 AC/AA, TC, TG, HDL-C, LDL-C, Apo-A1, Apo-B and NEFA (P < 0.05).
These results suggest that the rs1194338 AC/AA genotypes may be a protective factor for IS.
转移相关肺腺癌转录物 1（MALAT1）在多种疾病中异常表达。特别是在缺血性脑卒中（IS）中，MALAT1 的异常表达发挥了重要作用，包括促进血管生成、抑制细胞凋亡和炎症以及调节自噬。然而，MALAT1 基因变异（单核苷酸多态性，SNP）对 IS 的影响很少被探索。本研究旨在探讨 MALAT1 启动子中的 SNP 是否与 IS 的易感性有关。
本研究共纳入 316 例 IS 患者和 320 名年龄、性别和种族匹配的对照。采用定制设计的 48-Plex SNPscan 试剂盒对 MALAT1 启动子中的 4 个 SNP（rs600231、rs1194338、rs4102217 和 rs591291）进行基因分型。
MALAT1 启动子中的 rs1194338C > A 变体与 IS 的风险相关（AC 与 CC：调整后的 OR=0.623，95%CI，0.417-0.932，P=0.021；AA 与 CC：调整后的 OR=0.474，95%CI，0.226-0.991，P=0.047；显性模型：调整后的 OR=0.596，95%CI，0.406-0.874，P=0.008；A 与 C 调整后的 OR=0.658，95%CI，0.487-0.890，P=0.007）。单体型分析显示，rs600231-rs1194338-rs4102217-rs591291（A-C-G-C）使 IS 的风险增加 1.3 倍（95%CI，1.029-1.644，P=0.027）。Logistic 回归分析确定了 IS 的一些独立影响因素，包括 rs1194338AC/AA、TC、TG、HDL-C、LDL-C、Apo-A1、Apo-B 和 NEFA（P<0.05）。
这些结果表明，rs1194338AC/AA 基因型可能是 IS 的保护因素。
