Analysis of <scp>SLCO</scp>1B1 and <scp>APOE</scp> genetic polymorphisms in a large ethnic Hakka population in southern China

Zhong, Zhixiong; Wu, Heming; Li, Bin; Li, Cunren; Liu, Zhidong; Zhang, Zuo‐Feng; Zhong, Wei; Zhao, Pingsen

doi:10.1002/jcla.22408

Cited by 9 publications

(12 citation statements)

References 48 publications

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“…We found significant differences in the frequency of haplotypes SLCO1B1 *1a(388A-521 T), *1b(388 G-521 T), *5(388A-521 C), *15(388 G-521 T): *1b/ *1b, *1b/*15, *1a/*1b, *1a/*15 and *1a/*1a are common, together accounting for 96.5% of our cohort. However, these data differ from those of Zhong et al [18], who found, for example, an *1b/*1b frequency of 40%, whereas in our population the frequency is 29%. The reasons for this are unclear but may reflect difference in recruitment in that their cohort is some five times larger than ours.…”

Section: Discussioncontrasting

confidence: 99%

“…Genotypes of SLCO1B1 influence adverse reactions with statins [18] [24,25]. Accordingly, we calculate that 2.7% of our cohort are at high risk for adverse statins reactions, a finding that promotes the view that those at highrisk need additional prevention and control guidance such as diet control and lifestyle improvement, and also regular health care screening, so enabling early diagnosis and targeted treatment.…”

Section: Discussionmentioning

confidence: 87%

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Association between SLCO1B1 polymorphism distribution frequency and blood lipid level in Chinese adults

Huang

et al. 2020

British Journal of Biomedical Science

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Background: The variation of serum lipid levels can be part-related to certain genes. One such gene, SLCO1B1, encodes a transporter that may have a role in lipid metabolism. We hypothesised that differences in certain SLCO1B1 genotypes are related to levels of serum lipids. Materials and methods: We recruited 636 subjects who were genotyped for SLCO1B1 variants *1a, *1b, *5 and *15. Routine liver function tests, renal function tests and routine lipid indices were measured by standard techniques. Results: The most frequent genotypes were *1b/*1b (29.3%), *1b/*15 (27.5%), *1a/*1b (21.1%), *1a/*15 and *1b/*5 (10.2%) and *1a/*1a (8.5%). There were significant differences in levels of triglycerides and HDL in the four SLCO1B1 genotypes *1a/*1a, *1b/*1b, *1a/*1b and *1b/*15 (all p < 0.05). Conclusion: The genotypes *1a/*1a and *1a/*1b indicate a high risk of cardiovascular disease, while the *1b/*1b group may have a relatively low risk. SLCO1B1 may be involved in the metabolism of triglycerides and HDL. We have provided a tool for identifying potentially highrisk groups that could be helpful for early diagnosis and prevention, individualized drug therapy and even gene therapy.

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Section: Discussioncontrasting

confidence: 99%

Section: Discussionmentioning

confidence: 87%

Association between SLCO1B1 polymorphism distribution frequency and blood lipid level in Chinese adults

Huang

et al. 2020

British Journal of Biomedical Science

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“…The most common haplotype in the German (49.5%) and in the Turkish population (46.3%) was SLCO1B1 *1a 48 . Greek, 49 Roma and Hungarian, 50 Indian (North), 51 and Brazilian 52 populations exhibit relatively lower rates of *1b (<50%), whereas Thai 53,54 and Chinese 55 populations show higher rates, generally above 60%–70%. In contrast, the allele frequency of haplotypes *15 and *5 displayed little difference.…”

Section: Discussionmentioning

confidence: 99%

APOE gene ɛ4 allele (388C‐526C) effects on serum lipids and risk of coronary artery disease in southern Chinese Hakka population

Liu

et al. 2021

Clinical Laboratory Analysis

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Objective To analyze the relationship of Apolipoprotein E (APOE) and solute carrier organic anion transporter family member 1B1 (SLCO1B1) gene polymorphisms with coronary artery disease (CAD). Methods 1,129 CAD patients and 1,014 non‐CAD controls were included in the study, and relevant information and medical records were collected. The single‐nucleotide polymorphisms (SNPs) were analyzed, including rs429358, rs7412 in APOE gene and rs2306283, rs4149056 in SLCO1B1 gene. Results The CAD patients’ average age was 66.3 ± 10.7 years, while 65.5 ± 12.0 years in controls. The frequencies of APOE allele ɛ3, ɛ4, and ɛ2 were 83.01%, 10.08%, and 6.91% respectively. There were statistically significant differences in genotype ɛ3/ɛ4 (χ2 = 8.077, p = 0.005) in CAD patients compared with the controls. The SLCO1B1 genotype *1b/*1b and haplotype *1b showed the highest frequency in the study sample. Moreover, ε4 carriers had significantly lower HDL‐C, Apo‐A1 levels than ε3 carriers among CAD patients, while ε2 carriers showed lower LDL‐C, Apo‐B level, and higher Apo‐A1/Apo‐B level than ε3 and ε4 carriers. In controls, ε2 carriers showed lower LDL‐C and Apo‐B level, higher Apo‐A1, and Apo‐A1/Apo‐B level than ε4 carriers. Logistic regression analysis showed that high LDL‐C and Apo‐B level, low HDL‐C level, smoking, and the ε4 allele were risks for the presence of CAD. Conclusions APOE ε4 allele may be associated with susceptibility to CAD in southern Chinese Hakka population. It indicated that the APOE SNPs rs429358 and rs7412 are associated with CAD, but not SNPs rs2306283 and rs4149056 of SLCO1B1 gene.

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“…20 APOE is formed of two single nucleotide polymorphisms (SNPs): 388T > C (rs 429,358) and 526C > T (rs 7412), which can form three alleles, namely, ε2 (388T–526 T), ε3 (388T–526 C), and ε4 (388C–526 C). 12,21 There are two cysteine residues (cys) at sites 112 and 158 of the amino acid sequence for APOE ε2, while the cysteine residue is replaced by the positively charged arginine amino group (Arg) at site 158 in the amino acid sequence for APOE ε3, and is replaced by Arg at sites 112 and 158 for APOE ε4. 22 The difference among the three alleles lies in the change of two amino acids at sites 112 and 158, which makes the stability of the three alleles different, namely, ε4 < ε3 < ε2.…”

Section: Discussionmentioning

confidence: 99%

Distribution characteristics of ApoE gene polymorphism in the Tibetan population of Qinghai

Xie

et al. 2022

Eur J Inflamm

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Objective: To understand the distribution characteristics of the relative frequencies of apolipoprotein E (APOE) alleles in Tibetans of Qinghai province, to provide a basis for subsequent research. Method: Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to determine the APOE genotypes and analyze the distribution characteristics in 96 indigenous Tibetans randomly selected from the Medical Examination Center of Qinghai Provincial People’s Hospital, and the results of this study were compared with those of other ethnic groups in China. Results: The frequencies of E2, E3, and E4 alleles in the 96 subjects were 1.563%, 89.062%, and 9.375%, respectively, and the genotype frequencies were E2/E2 (0%), E2/E3 (3.125%), E2/E4 (0%), E3/E3 (78.125%), E3/E4 (18.750%), and E4/E4 (0%), respectively. The frequency distribution of the ε2 allele in the Tibetan population was lower than that of the Northern Han, Southern Hakka, Hui, Mongolian, and Dai populations of China. The frequency distribution of the ε4 allele in the Tibetan population was of no significant difference compared with that of the Northern Han, Southern Hakka, Hui, and Mongolian populations, but was higher than that of the Dai population. The frequency distribution of the ε3 allele in the Tibetan population was of no significant difference compared with that of the Northern Han, Mongolian, and Dai populations, but higher than that of the Southern Hakka and Mongolian populations. Conclusion: There are ethnic differences in the frequency distribution of the three common alleles of APOE.

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

Abstract: 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.

Cited by 9 publications

References 48 publications

Association between SLCO1B1 polymorphism distribution frequency and blood lipid level in Chinese adults

Association between SLCO1B1 polymorphism distribution frequency and blood lipid level in Chinese adults

APOE gene ɛ4 allele (388C‐526C) effects on serum lipids and risk of coronary artery disease in southern Chinese Hakka population

Distribution characteristics of ApoE gene polymorphism in the Tibetan population of Qinghai

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