酪氨酸激酶2基因多态性与汉族人群急性一氧化碳中毒后迟发性脑病的关联研究

Association Study of Tyrosine Kinase 2 Gene Polymorphism and Han Chinese Population with Delayed Encephalopathy after Acute Carbon Monoxide Poisoning

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 Han Chinese population with delayed encephalopathy after acute carbon monoxide poisoning （DEACMP） . Methods 109 DEACMP patients from Han population in Northern Henan Province were selected, and 115 patients of acute carbon monoxide poisoning without delayed eneephalopathy （abbreviated, ACMP） . The genotypes of TYK2 rs10876994 and rs34536443 genes were deter- mined with fluorescence quantitative PCR, and the association between genotypes and conditions was analyzed as well as the inter- actions with other risk factors on the condition. The HDS, IMCT and ADL were also evaluated. Results No gene polymorphism was observed at rs34536443 in the included population. The genotype distributions of rs10876994 in DEACMP and ACMP groups were AA： 20. 2% vs. 19. 1%, AC： 47.7% vs. 40. 9%, CC： 32. 1% vs. 40.0%.The allele frequencies were A： 44. 0% vs. 39. 6% , C ： 56.0% vs. 60.4% , respectively. There was no statistically significant difference between genotype distribution and allele frequency （ all comparison P 〉 0. 05） . Then the difference was still not significant by gender stratification （ all com- parison P 〉 0. 05 ） . However, statistically significant difference in different rs10876994 genotype carriers was found between ADLscore EAA： （59.09± 3.34）, AC- （61.88± 2.07）, CC： （62.40± 1.68）] and IMCTscore [AA： （3.09±1.19）, AC： （.2.42± 1.04）, CC： （1.91± 0.85）1 at most severely ill stage （allcomparisonP〈0.05） .Conclusion Noevidencehas yet shown the association between rs34536443 and rs10876994 gene polymorphism with DEACMP and TYK2 gene as genetic susceptibility genes of DEACMP is not evidence - based.