Association between the rs189037 single nucleotide polymorphism in the ATM gene promoter and cognitive impairment.

The aim of this study was to explore the existence of a relationship between the rs189037 single nucleotide polymorphism (SNP) of the ataxia telangiectasia mutated (ATM) gene and cognitive impairment in the elderly (aged 60 years and above). In a cohort, 505 residents of Suinung City were consecutively recruited and their cognitive function was measured using a 30-point Mini-Mental State Examination (MMSE). The subjects were divided into cognitive impairment group and control group on the basis of MMSE scores. Presence of the rs189037 SNP variant was examined using polymerase chain reaction-restriction fragment length polymorphism. The prevalence rates of cognitive impairment were 32.7% in the whole sample. The genotype frequencies of the rs189037 polymorphism were 33.5% (CC), 50.7% (CT), and 15.8% (TT); the C and T allele frequencies were 58.8 and 41.2%, respectively. No significant differences in the frequency distributions of the CC, CT and TT genotypes were observed between cognitively impaired and control groups. We found that the rs189037 SNP was not directly correlated with cognitive impairment among the elderly Chinese Han population.

Association of liver X receptor α (LXRα) gene polymorphism and ischemic stroke.

We examined the relationship between the liver X receptor a gene (LXRα) rsl2221497 polymorphism and the susceptibility to ischemic stroke in a Chinese population. The polymerase chain reaction-restriction fragment length polymorphism technique was used to detect the genotype of rsl2221497 in the LXRαgene of 300 stroke patients and 300 healthy control subjects. The chi-square test was used to analyze the genotype distribution between the 2 groups. We found that the risk of stroke in carriers with the AA + GA genotype was 2.12-fold higher than that in GG genotype carriers (odds ratio = 2.12, 95% confidence interval: 1.58-2.99, P < 0.05). The risk of stroke in carriers of the A allele increased by 1.03-fold compared to that in G allele carriers (odds ratio = 2.03, 95% confidence interval: 1.44-3.01, P < 0.01). After adjusting for other confounding factors such smoking, hypertension, and diabetes, the A allele was found to be an independent risk factor for stroke. Therefore, the rsl2221497 polymorphism in the LXRαgene was associated with the susceptibility to stroke in a Chinese population.