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目的探讨酪氨酸激酶2(TYK2)基因多态性与急性一氧化碳中毒后迟发性脑病(DEACMP)之间的关联。方法选择2006年10月—2010年10月豫北地区汉族DEACMP患者109例,急性一氧化碳中毒(ACMP)未发生迟发脑病患者115例,采用荧光定量聚合酶链反应(PCR)技术,检测TYK2的rs10876994和rs34536443位点,分析基因多态性与疾病的关联性,评估长谷川痴呆量表(HDS)、常识-记忆-注意测验(IMCT)、日常生活能力量表(ADL)。结果 rs34536443位点无多态性。DEACMP组和ACMP组rs10876994位点基因型分布为AA:20.2%和19.1%,AC:47.7%和40.9%,CC:32.1%和40.0%;等位基因频率为A:44.0%和39.6%,C:56.0%和60.4%,差异均无统计学意义(P>0.05)。按性别分层后,差异仍无统计学意义(P>0.05)。rs10876994位点不同基因型携带者在病情最严重时的IMCT〔AA:(3.09±1.19)分,AC:(2.42±1.04)分,CC:(1.91±0.85)分〕和ADL〔AA:(59.09±3.34)分,AC:(61.88±2.07)分,CC:(62.40±1.68)分〕评分比较,差异均有统计学意义(P<0.05)。结论尚未发现rs34536443和rs10876994基因多态性与DEACMP关联的证据,暂不支持TYK2基因作为DEACMP的遗传易患基因。
Objective To investigate the association between tyrosine kinase 2 (TYK2) gene polymorphism and delayed encephalopathy (DEACMP) after acute carbon monoxide poisoning. Methods One hundred and ten patients with DEACMP in Han nationality in northern Henan from October 2006 to October 2010 were enrolled in this study. One hundred and fifteen patients without delayed encephalopathy were enrolled in this study. Fluorescent quantitative polymerase chain reaction (PCR) was used to detect the expression of TYK2 rs10876994 and rs34536443 loci. The relationship between gene polymorphisms and diseases was analyzed to evaluate the Hasegawa dementia scale (HDS), common-memory-attention test (IMCT) and daily living ability scale (ADL). Results rs34536443 no polymorphism. The genotypes of rs10876994 in DEACMP group and ACMP group were AA: 20.2% and 19.1%, AC: 47.7% and 40.9%, CC: 32.1% and 40.0%, allele frequencies A: 44.0% and 39.6% : 56.0% and 60.4% respectively, with no significant difference (P> 0.05). Stratified by sex, the difference was not statistically significant (P> 0.05). IMCT 〔AA: (3.09 ± 1.19), AC: (2.42 ± 1.04), CC: (1.91 ± 0.85) minutes〕 and ADL 〔AA: (59.09) in the most severe cases of rs10876994 locus, ± 3.34), AC: (61.88 ± 2.07), CC: (62.40 ± 1.68) points, the difference was statistically significant (P <0.05). Conclusion No evidence of the association of rs34536443 and rs10876994 polymorphisms with DEACMP has been found. TYK2 gene is not supported as a genetic predisposition to DEACMP.