Gupta Ankit, Saluja Alvee, Saraswathy Kallur Nava, Imnameren Longkumer, Yadav Suniti, Dhamija Rajinder K
Department of Medicine, Lady Hardinge Medical College and Associated Hospitals, New Delhi, India.
Department of Neurology, Lady Hardinge Medical College and Associated Hospitals, New Delhi, India.
Ann Indian Acad Neurol. 2022 Jan-Feb;25(1):100-105. doi: 10.4103/aian.aian_571_21. Epub 2021 Oct 22.
PON1 is an High Density Lipoprotein (HDL)-associated esterase. Two common polymorphisms in the PON1 gene, Q192R and L55M substitutions, determine the inter-individual variation in PON1 activity. The association of these polymorphisms with the risk of ischemic stroke remains controversial. In the present study, the role of PON1 Q192R gene polymorphism in ischemic stroke was studied in the Indian population.
In the present case-control study, the PON1 Q192R gene polymorphism was screened in ischemic stroke patients (: 63) and age, sex-matched controls (: 63) using thePolymerase Chain Reaction-Restriction Segment Length Polymorphism (PCR-RFLP) method.
The mean age of stroke presentation was 58.11 ± 15.4 years. A total of 17.4% cases presented with young stroke (<45 years age) and 9.52% cases were seen to have a recurrent stroke. The distribution of -192Q/R PON1 gene polymorphism was not seen to differ between cases and controls. The traditional stroke risk factors did not have any effect on the PON1 genotype expression. A multivariate logistic regression analysis was done in order to assess an independent association of age, gender, traditional stroke risk factors, and PON1 polymorphism with acute ischemic stroke. However, neither the RR genotype nor the presence of the R allele was associated with an increase in the risk of acute ischemic stroke (OR [RR genotype]-4.76, value: 0.24, 95% CI: 0.3497-64.8531; OR [R allele]-0.94, value: 0.90, 95% CI: 0.3516-2.4989).
PON1 Q192R gene polymorphism is not associated with an increased risk of acute ischemic stroke in the North Indian population. Further studies with a larger sample size are needed before PON1 Q192R gene polymorphism can be considered as a genetic risk factor for ischemic stroke.
对氧磷酶1（PON1）是一种与高密度脂蛋白（HDL）相关的酯酶。PON1基因中的两种常见多态性，即Q192R和L55M替换，决定了个体间PON1活性的差异。这些多态性与缺血性中风风险之间的关联仍存在争议。在本研究中，我们在印度人群中研究了PON1 Q192R基因多态性在缺血性中风中的作用。
在本病例对照研究中，采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法，对63例缺血性中风患者及年龄、性别匹配的63例对照者进行PON1 Q192R基因多态性筛查。
中风发病的平均年龄为58.11±15.4岁。共有17.4%的病例为青年中风（年龄<45岁），9.52%的病例有中风复发。病例组和对照组之间未发现-192Q/R PON1基因多态性分布存在差异。传统的中风危险因素对PON1基因型表达没有任何影响。进行多因素逻辑回归分析，以评估年龄、性别、传统中风危险因素和PON1多态性与急性缺血性中风的独立关联。然而，RR基因型和R等位基因的存在均与急性缺血性中风风险增加无关（OR[RR基因型]=4.76，P值=0.24，95%CI：0.3497-64.8531；OR[R等位基因]=0.94，P值=0.90，95%CI：0.3516-2.4989）。
在北印度人群中，PON1 Q192R基因多态性与急性缺血性中风风险增加无关。在将PON1 Q192R基因多态性视为缺血性中风的遗传危险因素之前，需要进行更大样本量的进一步研究。
