The correlation between NOTCH3 gene polymorphism and white matter lesions / 中华急诊医学杂志

ABSTRACT

Objective To investigate the correlation between NOTCH3 polymorphic locus rs1043994 and white matter lesions (WML). Methods The enrolled subjects were elderly in the outpatient clinic for health check-up from January 2015 to January 2017. According to the results of cranial MR examination, 337 elderly people were divided into the WML group (n=172) and normal control group (n=165). The inclusion criteria were (1) age ≥ 50 years old; (2) those who can cooperate with head MRI examination; (3) those who understand the study and agree to retain blood samples for SNP testing. Exclusion criteria were (1) previous neurological diseases such as cerebrovascular disease, intracranial infection, dementia, and trauma; (2) having a history of mental illness; (3) suffering from serious diseases such as liver and kidney dysfunction, heart disease, tumors. The clinical data of the subjects were collected and the peripheral venous blood was extracted for DNA extraction. The cognitive function was evaluated by the Mini-mental State Examination. The genotyping of the subjects was carried out by restriction endonuclease. The correlation between rs1043994 polymorphism and WML was analyzed by Logistic regression. Results There was no significant difference in gender, education level, diabetes, hyperlipidemia, smoking, uric acid and Hcy between the two groups (P>0.05). Compared with the control group, the WML group had a higher average age and a higher proportion of hypertension (P<0.05), and the Mini-mental State Examination scores between the two groups were statistically significant different (P<0.01). The genotypes (AA, AG, GG) frequency and allele (A, G) frequency distribution of rs1043994 were statistically different between the two groups (P<0.05). Multivariate Logistic regression analysis showed that age (P=0.001), hypertension (P=0.012) and AA genotype (P=0.019) were independent risk factors of WML (P<0.05). The risk of WML in AA genotype is 2.512 times higher than that in AG/GG genotype. Conclusions The rs1043994 polymorphism of NOTCH3 gene is associated with WML in the elderly population, and the A allele is a susceptibility gene for WML. The rs1043994 polymorphism of the NOTCH3 gene may be a genetic risk factor for WML in the Chinese elderly population.