The proprotein convertase subtilisin/kexin type 9 gene E670G polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations

Abstract

BackgroundProprotein convertase subtilisin-like kexin type 9 (PCSK9) plays a key role in regulating plasma low-density lipoprotein cholesterol (LDL-C) levels. However, the association of E670G (rs505151) polymorphism in the PCSK9 gene and serum lipid levels is inconsistent in several previous studies. The present study was undertaken to detect the association of PCSK9 E670G polymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations.MethodsA total of 649 subjects of Bai Ku Yao and 646 participants of Han were randomly selected from our previous samples. Genotypes of the PCSK9 E670G polymorphism were determined via polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing.ResultsSerum levels of total cholesterol, high-density lipoprotein cholesterol (HDL-C), LDL-C, and apolipoprotein (Apo) AI were lower in Bai Ku Yao than in Han (P < 0.01 for all). The frequency of G allele was 2.00% in Bai Ku Yao and 4.80% in Han (P < 0.01). There was significant difference in the genotypic and allelic frequencies between Bai Ku Yao and Han (P < 0.01); between normal LDL-C (≤ 3.20 mmol/L) and high LDL-C subgroups (> 3.20 mmol/L, P < 0.01) in Bai Ku Yao; and between normal HDL-C (≥ 0.91 mmol/L) and low HDL-C (< 0.91 mmol/L, P < 0.05), between normal ApoAI (≥ 1.00 g/L) and low ApoAI (< 1.00 g/L, P < 0.05), or between normal ApoAI/ApoB ratio (≥ 1.00) and low ApoAI/ApoB ratio (< 1.00, P < 0.01) subgroups in Han. The G allele carriers in Han had higher serum HDL-C levels and the ratio of ApoAI to ApoB than the G allele noncarriers. The G allele carriers in Han had higher serum HDL-C and ApoAI levels than the G allele noncarriers in males (P < 0.05 for each), whereas the G allele carriers had lower serum ApoB levels and higher the ratio of ApoAI to ApoB than the G allele noncarriers in females (P < 0.05 for all). Serum HDL-C and ApoAI levels in Han were correlated with genotypes (P < 0.05) in males, and serum ApoB levels and the ratio of ApoAI to ApoB were associated with genotypes (P < 0.05) in females.ConclusionsThe PCSK9 E670G polymorphism is mainly associated with some serum lipid parameters in the Han population. The G allele carriers had higher serum HDL-C and ApoAI levels in males, and lower serum ApoB levels and higher the ApoAI/ApoB ratio in females than the G allele noncarriers.

Combined PCSK9 and APOE Polymorphisms are Genetic Risk Factors Associated with Elevated Plasma Lipid Levels in a Thai Population

“…Moreover, in German [27], Brazilian [26], and Tunisian populations [28], as well as in the Belgium Stroke Study [29], the PLIC study [25], and the LCAS [30], PCSK9 E670G was associated with increased TC and/or LDL-C levels or an increased risk of atherosclerosis. In healthy UK men [15], Taiwanese [31], Guangxi Bai Ku Yao, and Han Chinese populations [32], and in the PROSPER study group [14], PCSK9 E670G was not associated with increased TC and/or LDL-C levels or increased risk of atherosclerosis.…”

Study of the Association of PCSK9/Eam1104I Gene Polymorphism with Plasma Lipid Concentration and CAD in West Bengal Population

“…The effects of alcohol consumption on TC and LDL-C levels are depended upon genotypes. In their study AA genotype had lower serum TC and LDL-C levels in drinkers than in non-drinkers [19] . In our study similar type of result found that HDL-C level was much higher than LDL-C level in GG genotype than AA and AG genotype in control subject.…”

“…After the isolation of genomic DNA according to procedure previously described by Aung et al [19] , 1% Agarose Gel Electrophoresis (AGE) was run to check the presence of DNA in the eluted solution. The genomic DNA was seen in 1% AGE (Fig.…”

“…Genomic DNA was extracted from corresponding frozen blood sample using HiPura TM Blood Genomic DNA Miniprep Purification Spin Kit (MB505) of HIMEDIA slightly modified [19] and DNA was visualized by 1% Agarose Gel Electrophoresis (AGE) with Lambda HindIII ruler.…”

Potential of PCSK9 as a new target for the management of LDL cholesterol

“…A gain-of-function mutation, Glu670Gly, has been associated with increased LDL cholesterol and coronary atherosclerosis, but not in those of Caucasian or African descent. [56][57][58][59] In the Italian population, the same variant was associated with increased intima media thickness. 60 The Asp374Tyr variant has been found in Utah, Norway, and England.…”