Study On The Relationship Between PCSK9、ApoB Gene Mutation And FH Of Han、Mongolian In Hulunbuir Area

Objective:To provide an individual and precise genetic and molecular biological basis for the early prevention,diagnosis and treatment of local FH by analyzing the risk factors for the development of familial hypercholesterolemia(FH)in Han and Mongolian patients in the Hulunbeier region,comparing the lipid levels in FH patients of the two ethnic groups,and combining the two gene mutations and differences between different ethnic groups in the region.Methods:Twenty cases each of Han Chinese and Mongolian healthy checkups and 50 patients each who met the inclusion and exclusion criteria from November 2021 to December 2022 in five general hospitals in Hulunbeier City were selected.Multi-factor logistic analysis was used to analyze the risk factors associated with the development of FH;A t-test was used to analyze whether there were statistical differences in lipid levels between the groups;The sanger sequencing technology was used to detect the distribution of common mutation sites of PCSK9 and ApoB genes in all study subjects,and the mutation rates and mutation rates difference between regions and different ethnic groups were summarized and compared.Results:(1)Gender,age,alcohol consumption,dietary status and family history of FH were risk factors associated with the development of FH.(2)TC,LDL-C,ApoB and sdLDL-C levels were significantly higher in the two ethnic groups than in their control groups,TC,LDL-C and ApoB were significantly higher in the Mongolian case group than in the Han case group(P<0.05);sdLDL-C was not statistically different between the case groups of two ethnic,lipid levels were not statistically different between the control groups of two ethnic(P>0.05).(3)①The results of PCSK9 gene E670G mutation site detection:4(8%)heterozygous mutations were detected in the Han case group;A total of 9(18%)mutations were detected in the Mongols case group,including 8(16%)heterozygous and 1(2%)homozygous mutations;1 case of heterozygous mutation was detected in the Mongols control group.②The results of ApoB gene rs1367117 mutation site detection:A total of 10(20%)mutations were detected in the Han case group,including 8(16%)heterozygous and 2(4%)homozygous mutations;11 cases(22%)of heterozygous mutations were detected in the Mongolian case group;2 cases of heterozygous mutations detected in the Han control group;1 case of heterozygous mutation detected in Mongols control group;③The D374Y and S127R mutation sites of PCSK9 and the R3500Q mutation sites of ApoB were not detected in all study subjects.Conclusion:(1)The incidence rate of FH in women is significantly higher than that in men.Age,alcohol consumption,greasy diet,and family history of FH were positively associated with the incidence of FH.(2)The serum TC,LDL-C,ApoB,and sdLDL-C levels of FH patients in Hulunbuir area were significantly higher than those of the healthy population in this area;The serum TC,LDL-C and ApoB levels in Mongols FH patients were significantly higher than those in Han FH patients;There was no difference in blood lipid levels between healthy populations of the two ethnic groups.(3)The mutation sites of PCSK9 and ApoB genes in FH patients in Hulunbuir are different from other regions,and the mutation rate is higher than that in other regions.Therefore,it is recommended that the above sites of PCSK9 and ApoB genes be used as clinical detection indicators to assist the diagnosis of FH in this region.