Abstract
There is currently no data about the genetic variations of APOE in Hakka population in China. The aim of this study was to analyze the allelic and genotypic frequencies of APOE gene polymorphisms in a large ethnic Hakka population in southern China. The APOE genes of 6,907 subjects were genotyped by the gene chip platform. The allele and genotype frequencies were analyzed. Results showed that the ∊3 allele had the greatest frequency (0.804) followed by ∊2 (0.102), and ∊4 (0.094), while genotype ∊3/∊3 accounted for 65.43% followed by ∊2/∊3 (15.85%), ∊3/∊4 (14.13%), ∊2/∊4 (3.01%), ∊4/∊4 (0.84%), and ∊2/∊2 (0.74%) in all subjects. The frequencies of the ∊4 allele in Chinese populations were lower than Mongolian and Javanese, while the frequencies of the ∊2 allele were higher and ∊4 allele lower than Japanese, Koreans, and Iranian compared with the geographically neighboring countries. The frequencies of ∊2 and ∊4 alleles in Hakka population were similar to the Vietnamese, Chinese-Shanghai, Chinese-Kunming Han and Chinese-Northeast, and French. The frequency of ∊2 in Hakka population was higher than Chinese-Dehong Dai and Chinese-Jinangsu Han. The low frequency of the APOE ∊4 allele may suggest a low genetic risk of Hakka population for cardiovascular disease, Alzheimer’s disease, and other diseases.
Highlights
Apolipoprotein E (ApoE) is a multifunctional protein that plays an important role in lipoprotein metabolism, and is involved in the metabolism of very low density lipoproteins (VLDL) and chylomicrons (Blum, 2016)
Most of them came from southern China including seven areas of Meizhou city, Guangdong Province and some regions of Jiangxi Province, all of them are Hakka
Comparing our results with other Chinese populations, the frequencies of the e2 and e4 alleles in the Hakka population were highly similar to the Chinese-Shanghai, Chinese-Kunming Han, and Chinese-Northeast, while the frequency of e2 in the Hakka population was higher than Chinese-Dehong Dai (Tang et al, 2005) and ChineseJiangsu Han (Liang et al, 2009) (Figure 2)
Summary
Apolipoprotein E (ApoE) is a multifunctional protein that plays an important role in lipoprotein metabolism, and is involved in the metabolism of very low density lipoproteins (VLDL) and chylomicrons (Blum, 2016). There are three major isoforms of human ApoE including E2 (OMIM 107741.0001), E3 (OMIM 107741.0015), and E4 (OMIM 107741.0016), as identified by isoelectric focusing. The polymorphisms in the fourth exon of APOE gene determine three common alleles (e2, e3 and e4) coding for three major isoforms of. By different combinations of these three alleles, six genotypes (e2/e2, e2/e3, e2/e4, e3/e3, e3/e4, and e4/e4) are formed (Svobodová et al, 2007b; Yousuf et al, 2015). Some studies pointed out that the e3 allele is the most frequent in all human groups, while APOE e3/e3 is the most common genotype in most population (Corbo and Scacchi, 1999; Al-Dabbagh et al, 2009; Achourirassas et al, 2016; Jairani et al, 2016; Monge-Argilés et al, 2016; Tanyanyiwa et al, 2016)
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