Association between rs2494739 single nucleotide polymorphisms with atherosclerotic cerebral infarction in the Han and Li ethnic groups in Hainan / 中华老年医学杂志

ABSTRACT

Objective:To investigate the association between rs2494739 polymorphism of the AKT1 gene and cerebral infarction in the Han and Li ethnic groups in Hainan.Methods:A total of 143 cases of cerebral infarction and 197 healthy controls from the Han ethnic group, and 93 cases of cerebral infarction and 75 healthy controls from the Li ethnic group were enrolled.Genomic DNA was collected from peripheral blood.Rs2494739 polymorphisms were detected with the Snapshot technology, and SPSS 25.0 was used for statistical analysis.Results:The CC, CT and TT genotypes of rs2494739 were found in both the Han and Li ethnic groups, and their frequencies of distribution were 19.6%, 51.7% and 28.7% in the Han cases and 20.3%, 51.8% and 27.9% in the Han controls, whereas the frequencies were 19.3%, 45.2% and 35.5% in the Li cases and 33.3%, 42.7% and 24.0% in the Li controls, conforming to the Hardy-Weinberg equilibrium( P>0.05). The detection rate of genotype CC in the Li healthy controls was significantly higher than that in the Han controls( P<0.05), while no statistical difference was found between the Han and Li cases( P>0.05). The codominance hereditary model showed rs2494739 polymorphisms were not associated with cerebral infarction in the Han and Li ethnic groups( P=0.981 and 0.081, respectively)in Hainan.Further analysis revealed that the distribution frequency of genotype CC in the Li control group was significantly higher than that in the Li patient group( P=0.039, OR=0.48, 95% CI 0.237~0.970). The distribution frequency of the T allele in the cases was significantly higher than that in the controls( P=0.020, OR=1.67, 95% CI 1.082-2.576). Conclusions:Healthy Han and healthy Li ethnic groups in Hainan show differences in polymorphisms of rs2494739, which are not associated with the occurrence and development of cerebral infarction in the Hainan Han population.The CC genotype is a protective factor for the Li ethnicity from cerebral infarction and the T allele may be a susceptibility factor for cerebral infarction for the Li ethnicity in Hainan.