BACKGROUND We explored the association of leucine-rich repeats and calponin homology domain containing 1 (LRCH1) gene polymorphisms with genetic susceptibility to delayed encephalopathy after acute carbon monoxide poisoning (DEACMP), which might provide a theoretical basis for the pathogenesis, diagnosis, and prognosis research of DEACMP. METHODS Four single nucleotide polymorphisms, rs1539177 (G/A), rs17068697 (G/A), rs9534475 (A/C), and rs2236592 (T/C), of LRCH1, selected as candidate genes through genome-wide association analysis, were genotyped in 661 patients (DEACMP group: 235 cases; ACMP group: 426 cases) using Sequenom Massarray®. The association analysis of four SNPs and LRCH1 was performed under different genetic models. RESULTS LRCH1 polymorphisms (rs1539177, rs17068697, rs9534475) under additive and dominant genetic models were significantly associated with an increased risk of DEACMP, but no significant association under allele and recessive models was found. The LRCH1 rs2236592 polymorphism was susceptible to DEACMP only under the dominant model (TT/TC + CC, OR = 1.616, 95% CI: 1.092-2.390, P = 0.015784). In addition, the A allele gene of rs9534475 polymorphism in LRCH1 might increase the risk for DEACMP (OR = 1.273, 95% CI: 1.013-1.601, P = 0.038445). CONCLUSIONS We found a significant association between the four LRCH1 polymorphisms and DEACMP. The allelic A of rs9534475 polymorphism in LRCH1 might be a risk factor for DEACMP.

中文翻译：

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LRCH1多态性与急性一氧化碳中毒后的迟发性脑病有关，该现象由GWAS分析鉴定，然后进行SequenomMassARRAY®验证。

背景我们探讨了富含亮氨酸的重复序列和含有1（LRCH1）基因多态性的钙还原蛋白同源结构域与急性一氧化碳中毒（DEACMP）后迟发性脑病的遗传易感性的关联，这可能为发病机理，诊断和预后提供理论依据。 DEACMP的研究。方法通过全基因组关联分析选择了LRCH1的四个单核苷酸多态性rs1539177（G / A），rs17068697（G / A），rs9534475（A / C）和rs2236592（T / C）。使用SequenomMassarray®对661例患者（DEACMP组：235例； ACMP组：426例）进行基因分型。在不同的遗传模型下对四个SNP和LRCH1进行了关联分析。结果LRCH1多态性（rs1539177，rs17068697，rs9534475）在加性和显性遗传模型下与DEACMP风险增加显着相关，但在等位基因和隐性模型下未发现显着关联。LRCH1 rs2236592多态性仅在显性模型（TT / TC + CC，OR = 1.616，95％CI：1.092-2.390，P = 0.015784）下易受DEACMP的影响。此外，LRCH1中rs9534475多态性的A等位基因可能增加DEACMP的风险（OR = 1.273，95％CI：1.013-1.601，P = 0.038445）。结论我们发现四种LRCH1多态性与DEACMP之间存在显着关联。LRCH1中rs9534475多态性的等位基因A可能是DEACMP的危险因素。LRCH1 rs2236592多态性仅在显性模型（TT / TC + CC，OR = 1.616，95％CI：1.092-2.390，P = 0.015784）下易受DEACMP的影响。此外，LRCH1中rs9534475多态性的A等位基因可能增加DEACMP的风险（OR = 1.273，95％CI：1.013-1.601，P = 0.038445）。结论我们发现四种LRCH1多态性与DEACMP之间存在显着关联。LRCH1中rs9534475多态性的等位基因A可能是DEACMP的危险因素。LRCH1 rs2236592多态性仅在显性模型（TT / TC + CC，OR = 1.616，95％CI：1.092-2.390，P = 0.015784）下易受DEACMP的影响。此外，LRCH1中rs9534475多态性的A等位基因可能增加DEACMP的风险（OR = 1.273，95％CI：1.013-1.601，P = 0.038445）。结论我们发现四种LRCH1多态性与DEACMP之间存在显着关联。LRCH1中rs9534475多态性的等位基因A可能是DEACMP的危险因素。