Analysis of SLCO1B1 and APOE genetic polymorphisms in a large ethnic Hakka population in southern China

J Clin Lab Anal. 2018 Jul;32(6):e22408. doi: 10.1002/jcla.22408. Epub 2018 Feb 9.

Abstract

Objective: Statins are the most widely used lipid-lowering drugs, which have a significant effect on the inhibition of cardiovascular disease. The efficacy and side effects of statins are associated with the polymorphisms of SLCO1B1 and APOE genes. The purpose of this study was to analyze the SLCO1B1 and APOE gene polymorphisms in the Hakka population of southern China.

Methods: A total of 3249 subjects including 2019 males and 1230 females participated in this study. Polymerase chain reaction (PCR)-fluorescence probe technique for polymorphisms analysis and analyzed the genotypes frequencies of SLCO1B1 and APOE genes.

Results: The frequencies of SLCO1B1 521T>C between men and women were statistically significant (SLCO1B1 521TT, χ2 = 8.431, P = .004; SLCO1B1 521TC, χ2 = 7.436, P = .007). The frequencies of haplotypes *1b/*1b (40.07%) and *1a/*1b (32.56%) of SLCO1B1 gene accounted for 72.63%, followed by *1b/*15(14.40%), *1a/*1a (5.82%), *1a/*15 (5.57%), *15/*15 (1.45%), and *1a/*5 (0.12%). The frequencies of haplotypes *1a/*15 and *1b/*1b of SLCO1B1 gene between men and women were statistically significant (*1a/*15, χ2 = 6.789, P = .009; *1b/*1b, χ2 = 3.998, P = .004). In this study, genotype ɛ3/ɛ3 accounted for 69.04%, followed by ɛ3/ɛ4 (16.19%), ɛ2/ɛ3 (11.60%), ɛ2/ɛ4 (1.35%), ɛ4/ɛ4 (1.08%), and ɛ2/ɛ2 (0.74%) in all subjects, in which ɛ3 had the greatest allele frequency (82.93%), followed by ɛ4 (9.85%) and ɛ2 (7.22%). We found that 47 subjects carrying the SLCO1B1 521 (CC) polymorphism who had not any myopathy caused by statins.

Conclusions: We analyzed the SLCO1B1 and APOE gene polymorphisms in the Hakka population of southern China. This study provides a reference for the individualized meditation for Hakka population in this area.

Keywords: APOE; Hakka population; SLCO1B1; genetic polymorphism; statin.