Association study of apolipoprotein E gene polymorphism and Alzheimer disease in Xinjiang Uygur population and Han population

Objective To study the difference and distribution of apolipoprotein E (apoE) genotypes and allele frequency in Xinjiang Uygur population and Han population with Alzheimer disease (AD).Methods The apoE gene polymorphism was analyzed in 209 cases diagnosed according to the NINCDS/ADRDA criteria and 220 normal controls by using polymerase chain reaction-restriction fragment length polymorphism on the basis of an epidemiological survey.Results ( 1 ) Both in AD group and control group,there were no statistical differences in apoE genotypes and allele frequency between Uygur population and Han population (P ＞0.05).The frequencies of e3/4 genotype (28.2%) and e4 allele (14.8% ) were higher in AD group than controls ( 13.2% and 8.0%,P＜0.05).(2) In AD group,the frequencies of e3/4 genotype (30.6% in Uygur and 25.5% in Han) and e4 allele ( 15.8% in Uygur and 13.8% in Han) were higher than that in controls of the same population (e3/4 genotype:14.5% in Uygur and 11.7% in Hart;e4 allele:9.4% in Uygur and 6.3 % in Han;P ＜0.05 ).( 3 ) The frequency of e3/4 genotype was higher among Uygur male cases with AD (31%) than controls (11%);and the e4 allele frequencies were higher in female AD cases of Uygur and Han (16% and 14% ) than controls (8% and 7% ).Conclusions There are no differences in distribution of apoE genotypo and allele frequency between the Uygur population and Han population.The apoE e4 allele may be a risk factor for AD,especially in females. Key words: Alzheimer disease; Apolipoproteins E; Genotypo; Polymorphism,single