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.

中文翻译：

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lncRNA MALAT1启动子中的遗传变异与缺血性中风的易感性有关

转移相关的肺腺癌转录本1（MALAT1）在各种疾病中异常表达。特别是在缺血性中风（IS）中，MALAT1的异常表达起重要作用，包括促进血管生成，抑制细胞凋亡和炎症以及调节自噬。但是，很少研究MALAT1的遗传变异（单核苷酸多态性，SNP）对IS的影响。这项研究旨在调查MALAT1启动子中的SNP是否与IS易感性相关。本研究共纳入316名IS患者和320名年龄，性别和种族匹配的对照。使用定制的48-Plex SNPscan试剂盒对MALAT1启动子中的四个多态性（即rs600231，rs1194338，rs4102217和rs591291）进行基因分型。rs1194338 C> MALAT1启动子的变异与IS的风险相关（AC vs. CC：校正后的OR = 0.623，95％CI，0.417-0.932，P = 0.021； AA vs. CC：校正后的OR = 0.474，95％CI ，0.226–0.991，P = 0.047；优势模型：调整后的OR = 0.596，95％CI，0.406-0.874，P = 0.008； A对C调整后的OR = 0.658，95％CI，0.487-0.890，P = 0.007） 。单倍型分析表明，rs600231-rs1194338-rs4102217-rs591291（ACGC）的IS风险增加了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rs1194338 AC / AA，TC，TG，HDL-C，LDL-C，Apo-A1，Apo-B和NEFA（P <0.05）。这些结果表明，rs1194338 AC / AA基因型可能是IS的保护因素。021; AA vs. CC：调整后的OR = 0.474，95％CI，0.226-0.991，P = 0.047；主导模型：调整后的OR = 0.596，95％CI，0.406-0.874，P = 0.008；A对C的调整后OR = 0.658，95％CI，0.487-0.890，P = 0.007）。单倍型分析表明，rs600231-rs1194338-rs4102217-rs591291（ACGC）的IS风险增加了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rs1194338 AC / AA，TC，TG，HDL-C，LDL-C，Apo-A1，Apo-B和NEFA（P <0.05）。这些结果表明，rs1194338 AC / AA基因型可能是IS的保护因素。021; AA vs. CC：调整后的OR = 0.474，95％CI，0.226-0.991，P = 0.047；优势模型：调整后的OR = 0.596，95％CI，0.406-0.874，P = 0.008；A对C的调整后OR = 0.658，95％CI，0.487-0.890，P = 0.007）。单倍型分析表明，rs600231-rs1194338-rs4102217-rs591291（ACGC）的IS风险增加了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rs1194338 AC / AA，TC，TG，HDL-C，LDL-C，Apo-A1，Apo-B和NEFA（P <0.05）。这些结果表明，rs1194338 AC / AA基因型可能是IS的保护因素。单倍型分析表明，rs600231-rs1194338-rs4102217-rs591291（ACGC）的IS风险增加了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rs1194338 AC / AA，TC，TG，HDL-C，LDL-C，Apo-A1，Apo-B和NEFA（P <0.05）。这些结果表明，rs1194338 AC / AA基因型可能是IS的保护因素。单倍型分析表明，rs600231-rs1194338-rs4102217-rs591291（ACGC）的IS风险增加了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rs1194338 AC / AA，TC，TG，HDL-C，LDL-C，Apo-A1，Apo-B和NEFA（P <0.05）。这些结果表明，rs1194338 AC / AA基因型可能是IS的保护因素。