Polymorphism of rs873308 near the transmembrane protein 57 gene is associated with serum lipid levels

Guo, Tao; Yin, Rong; Lin, Quan-Zhen; Wu, Jian; Shen, Shao-Wen; Sun, Jiaqi; Shi, Guang-Yuan; Wu, Jin‐Zhen; Li, Hui; Wang, Yiming

doi:10.1042/bsr20130131

Cited by 8 publications

(8 citation statements)

References 33 publications

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“…Serum ApoA1 and ApoB levels were detected by the immunoturbidimetric immunoassay using a commercial kit (RANDOX Laboratories Ltd.). All determinations were performed with an auto-analyzer (Type 7170A; Hitachi Ltd., Tokyo, Japan) in the Clinical Science Experiment Center of the First Affiliated Hospital, Guangxi Medical University [ 19 ].…”

Section: Methodsmentioning

confidence: 99%

Association of the APOA1 rs964184 SNP and serum lipid traits in the Chinese Maonan and Han populations

et al. 2018

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BackgroundMaonan nationality belongs to a mountain ethnic minority in China. Little is known about the association of apolipoprotein A1 gene (APOA1) rs964184 single nucleotide polymorphism (SNP) and serum lipid levels in this population. The aim of this study was to detect the association of the APOA1 rs964184 SNP and several environmental factors with serum lipid profiles in the Chinese Maonan and Han populations.MethodsGenotypes of the APOA1 rs964184 SNP in 867 individuals of Maonan nationality and 820 participants of Han nationality were determined by polymerase chain reaction and restriction fragment length polymorphism, combined with gel electrophoresis, and confirmed by direct sequencing.ResultsThe frequencies of CC, CG and GG genotypes of the APOA1 rs964184 SNP were 68.86, 29.18 and 1.96% in the Maonan population, and 63.78, 30.85 and 5.37% in the Han population (P < 0.001). The frequency of the G allele was 16.55% in Maonan and 20.79% in Han (P < 0.001). The G allele carriers had lower high-density lipoprotein cholesterol (HDL-C) levels in Maonan and higher triglyceride (TG) levels in Han peoples than the G allele non-carriers. Subgroup analyses showed that the G allele carriers had lower HDL-C levels in both Maonan males and females; and lower apolipoprotein (Apo) A1 levels and the ApoA1/ApoB ratio in Han males than the G allele non-carriers. Serum lipid parameters in the two ethnic groups were also associated with several environmental factors.ConclusionsThe present study reveals that there may be a racial/ethnic- and/or gender-specific association between the APOA1 rs964184 SNP and serum lipid parameters in our study populations.Trial registrationRetrospectively registered.

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Section: Methodsmentioning

confidence: 99%

Association of the APOA1 rs964184 SNP and serum lipid traits in the Chinese Maonan and Han populations

et al. 2018

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“…However, the majority of interacting genes are located in different pathways. Among 18 pathways, calcium signaling pathway mediates the effect of LDL and plays a role in control of atherosclerosis susceptibility [ 36 ], LDL-cholesterol has multiple roles in regulating focal adhesion dynamics [ 37 ], LDL is involved in free radical induced apoptosis pathway [ 38 ], MAPK and JAK-STAT pathways are involved in dietary flavonoid protection against oxidized LDL [ 39 ], up-regulation of autophagy via AMPK/mTOR signaling pathway alleviates oxidized -LDL induced inflammation [ 40 ], PPARα holds a fundamental role in control of lipid homeostasis [ 41 ] and lectin-like ox-LDL receptor 1 mediates PKC-α/ERK/PPAR-γ/MMP pathway [ 42 ], HDL reduces the TGF-β1-induced collagen deposition [ 43 ], the Wnt pathway plays an important role in lipid storage and homeostasis [ 44 ], From the literatures, we found that both common and rare variants in CETP were associated with the HDL [ 45 ], CREBBP regulated LDL receptor transcription [ 46 ], PLTP was associated with HDL and LDL [ 47 ], TMEM57 was associated with serum lipid levels [ 48 ], SH2B3 was associated with LDL cholesterol [ 49 ]. It was also reported that CSMD1 was associated with multivariate phenotype defined as low levels of low density lipoprotein cholesterol (LDL-C < or = 100 mg/dl) and high levels of triglycerides (TG > or = 180 mg/dl) [ 50 ], associated with hypertension [ 51 ].…”

Section: Resultsmentioning

confidence: 99%

Functional Regression Models for Epistasis Analysis of Multiple Quantitative Traits

et al. 2016

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To date, most genetic analyses of phenotypes have focused on analyzing single traits or analyzing each phenotype independently. However, joint epistasis analysis of multiple complementary traits will increase statistical power and improve our understanding of the complicated genetic structure of the complex diseases. Despite their importance in uncovering the genetic structure of complex traits, the statistical methods for identifying epistasis in multiple phenotypes remains fundamentally unexplored. To fill this gap, we formulate a test for interaction between two genes in multiple quantitative trait analysis as a multiple functional regression (MFRG) in which the genotype functions (genetic variant profiles) are defined as a function of the genomic position of the genetic variants. We use large-scale simulations to calculate Type I error rates for testing interaction between two genes with multiple phenotypes and to compare the power with multivariate pairwise interaction analysis and single trait interaction analysis by a single variate functional regression model. To further evaluate performance, the MFRG for epistasis analysis is applied to five phenotypes of exome sequence data from the NHLBI’s Exome Sequencing Project (ESP) to detect pleiotropic epistasis. A total of 267 pairs of genes that formed a genetic interaction network showed significant evidence of epistasis influencing five traits. The results demonstrate that the joint interaction analysis of multiple phenotypes has a much higher power to detect interaction than the interaction analysis of a single trait and may open a new direction to fully uncovering the genetic structure of multiple phenotypes.

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“…Genomic DNA of the samples was extracted from peripheral blood leucocytes in accordance with the phenol–chloroform method . The extracted DNA was stored at 4°C until analysis.…”

Section: Methodsmentioning

confidence: 99%

Association between the LIPG polymorphisms and serum lipid levels in the Maonan and Han populations

Yang

Yin

Liu

et al. 2019

The Journal of Gene Medicine

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Introduction The Maonan population is a relatively isolated minority in China. Little is known about endothelial lipase gene ( LIPG ) single nucleotide polymorphisms (SNPs) and serum lipid levels in the Chinese populations. The present study aimed to detect the association of several LIPG SNPs and environmental factors with serum lipid levels in the Chinese Maonan and Han populations. Methods In total, 773 subjects of Maonan ethnicity and 710 participants of Han ethnicity were randomly selected from our previous stratified randomized samples. Genotypes of the LIPG rs2156552, rs4939883 and rs7241918 SNPs were determined by polymerase chain reaction‐restriction fragment length polymorphism, and then confirmed by direct sequencing. Results The allelic (rs2156552, rs4939883 and rs7241918) and genotypic (rs2156552 and rs4939883) frequencies were different between the two ethnic groups ( p < 0.05–0.01). The minor allele carriers had lower apolipoprotein (Apo)A1/ApoB ratio (rs2156552 and rs7241918), high‐density lipoprotein cholesterol (HDL‐C) and apolipoprotein (Apo)A1 (rs2156552) levels and higher ApoB levels (rs4939883) in the Han population, and lower HDL‐C (rs2156552, rs4939883 and rs7241918) levels in the Maonan minority than the minor allele non‐carriers ( p < 0.0167 after Bonferroni correction). Subgroup analyses according to sex showed that the minor allele carriers had a lower ApoA1/ApoB ratio (rs2156552 and rs7241918) and higher ApoB levels (rs7241918) in Han males, and lower ApoA1 and HDL‐C levels in Maonan females than the minor allele non‐carriers ( p < 0.0167–0.001). Conclusions The present study demonstrates the association between the LIPG polymorphsims and serum lipid levels in the two ethnic groups. These associations might have an ethnic‐ and or/sex‐specificity.

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Polymorphism of rs873308 near the transmembrane protein 57 gene is associated with serum lipid levels

Cited by 8 publications

References 33 publications

Association of the APOA1 rs964184 SNP and serum lipid traits in the Chinese Maonan and Han populations

Association of the APOA1 rs964184 SNP and serum lipid traits in the Chinese Maonan and Han populations

Functional Regression Models for Epistasis Analysis of Multiple Quantitative Traits

Association between the LIPG polymorphisms and serum lipid levels in the Maonan and Han populations

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