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目的 探讨健康老年人无症状性脑白质损害(WML)和细胞间黏附分子1 (ICAM -1)K469E基因多态性之间的关系。方法 利用聚合酶链式反应限制性片段长度多态性法(PCR RFLP),对121例WML患者和99名对照组老年人的ICAM 1K469E基因多态性位点进行检测和分析。结果 病例组和对照组ICAM 1K469E多态性分布符合Hardy Weinberg遗传平衡定律,说明研究对象具有群体代表性。WML组KK基因型和K等位基因频率均明显高于对照组(基因型50. 4%vs25. 3%,P<0. 01;等位基因频率73 .1% vs52. 0%,P=0 .002),两组间差异有统计学意义。Logistic多因素回归分析显示在校正高血压、年龄等因素后,ICAM 1KK型与WML的发生相关(OR=2 99,P=0. 01)。和非KK型个体相比,KK型个体患WML相对危险度是前者的2. 99倍。结论 ICAM 1KK基因型与WML的发生具有相关性,提示ICAM 1基因K469E多态性可能是中国人WML发病的遗传学危险因素。
Objective To investigate the relationship between asymptomatic white matter damage (WML) and K469E polymorphism in ICAM-1 in healthy elderly. Methods Polymerase chain reaction restriction fragment length polymorphism (PCR RFLP) was used to detect and analyze the ICAM 1K469E polymorphism in 121 WML patients and 99 control subjects. Results The distribution of ICAM 1K469E polymorphism in case group and control group was in line with Hardy Weinberg’s law of genetic balance, indicating that the subjects were group representative. WK genotype and K allele frequency were significantly higher than the control group (genotype 50.4% vs25.3%, P <0.01; allele frequency 73.1% vs52.0%, P = 0 .002), the difference between the two groups was statistically significant. Logistic multivariate regression analysis showed that ICAM 1KK type was associated with the occurrence of WML (OR = 299, P = .01) after adjusting for factors such as hypertension and age. Compared with non-KK-type individuals, KK-type individuals suffering from WML relative risk was 2.99 times the former. Conclusions ICAM 1KK genotype is associated with the occurrence of WML, suggesting that K469E polymorphism of ICAM 1 gene may be a genetic risk factor for the pathogenesis of WML in Chinese.