Association of rs5888 SNP in the scavenger receptor class B type 1 gene and serum lipid levels.
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ABSTRACT:
SUBMITTER: Wu DF
PROVIDER: S-EPMC3391995 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Publications
Association of rs5888 SNP in the scavenger receptor class B type 1 gene and serum lipid levels.
Wu Dong-Feng DF Yin Rui-Xing RX Hu Xi-Jiang XJ Aung Lynn Htet Htet LH Cao Xiao-Li XL Miao Lin L Li Qing Q Yan Ting-Ting TT Wu Jin-Zhen JZ Pan Shang-Ling SL
Lipids in health and disease 20120709
<h4>Background</h4>Bai Ku Yao is a special subgroup of the Yao minority in China. The present study was undertaken to detect the association of rs5888 single nucleotide polymorphism (SNP) in the scavenger receptor class B type 1 (SCARB1) gene and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations.<h4>Methods</h4>A total of 598 subjects of Bai Ku Yao and 585 subjects of Han Chinese were randomly selected from our stratified randomized cluster sampl ...[more]
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Project description:BackgroundThe associations of scavenger receptor class B type 1 (SCARB1) rs5888 single nucleotide polymorphism (SNP) and serum lipid levels are inconsistant among diverse ethnic populations. The present study was undertaken to detect the association of rs5888 SNP and serum lipid levels in the Guangxi Mulao and Han populations.MethodsGenotypes of the SCARB1 rs5888 SNP in 801 subjects of Mulao and 807 subjects of Han Chinese were determined by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing.ResultsSerum apolipoprotein (Apo) B levels and the T allelic frequency were higher in Mulao than in Han. Serum high-density lipoprotein cholesterol (HDL-C) levels in Mulao were different among the genotypes, the subjects with TT genotype had lower HDL-C levels than the subjects with CC or CT genotype in female (P < 0.05). For the Han population, serum triglyceride (TG), HDL-C, ApoAI, ApoB levels and the ratio of ApoAI to ApoB in males were different among the genotypes, the T allele carriers had lower serum HDL-C, ApoAI levels and ApoAI/ApoB ratio and higher serum ApoB levels than the T allele noncarriers (P < 0.05 for all), the subjects with TT genotype had higher serum TG levels than the subjects with CC or CT genotype. Serum HDL-C levels in Mulao females and serum HDL-C, ApoAI, ApoB levels and the ApoAI/ApoB ratio in Han males were correlated with genotypes by the multiple linear regression analysis. Serum lipid parameters were also influenced by genotype-environmental interactions in Han but not in Mulao populations.ConclusionsThese results suggest that the rs5888 SNP is associated with serum HDL-C levels in Mulao females, and TG, HDL-C, ApoAI, ApoB levels and the ApoAI/ApoB ratio in Han males. The differences in serum ApoB levels between the two ethnic groups might partially attribute to different SCARB1 genotype-environmental interactions.
| S-EPMC3477681 | biostudies-literature
Project description:BackgroundOur previous studies have showed that the rs5888 single nucleotide polymorphism (SNP) in Scavenger receptor class B type 1 (SCARB1) gene is associated with serum lipid levels in the general Chinese populations. The present study was undertaken to detect the associations between rs5888 SNP and the risk of coronary artery disease (CAD) and ischemic stroke (IS).MethodsA total of 1,716 unrelated subjects (CAD, 601; IS, 533; and healthy controls, 582) were included in this study. Genotyping of the rs5888 SNP were determined by polymerase chain reaction and restriction fragment length polymorphism.ResultsThe genotypic frequencies of SCARB1 rs5888 SNP were different between CAD patients and controls, the subjects with TT genotype had high risk of CAD (OR = 1.76, P = 0.038 for TT vs. CC; and OR = 1.75, P = 0.036 for TT vs. CC/CT). There was no significant association between genotypes and the risk of IS. Further analysis showed that the subjects with TT genotype in the total population had lower levels of high-density lipoprotein cholesterol than the subjects with CC/CT genotypes (P < 0.05), the subjects with TT genotype in controls but not in CAD or IS patients had higher levels of serum LDL-C and ApoB than those with CC genotype (P < 0.05 for each).ConclusionsThe present study suggests that the SCARB1 rs5888 SNP influences serum lipid levels, and is associated with the risk of CAD.
| S-EPMC3804801 | biostudies-literature
Project description:Several single nucleotide polymorphisms (SNPs) in lipid transport genes have been shown to be associated with premature coronary artery disease (PCAD). The scavenger receptor BI (SCARB1) is a key component of the reverse cholesterol transport and lipid metabolism. We aimed to examine the relationship between the rs5888 SNP within SCARB1and the risk of angiographically determined PCAD.We used an age cut-off of 55 years for women and 45 years for men to define PCAD. Five-hundred and five patients with newly diagnosed angiographically documented PCAD (? 50 % luminal stenosis of any coronary vessel) as case group compared with 546 controls (subjects with no luminal stenosis at coronary arteries). The severity of CAD was determined by vessel score as well as Gensini score. A real-time polymerase chain reaction (PCR) and High Resolution Melting (HRM) analysis was used to distinguish between genotypes.T allele as compared to C allele was associated with increased odds of PCAD in total population (adjusted OR = 1.3, 95 % CI = 1.0 to 1.5; p = 0.020), and in women (adjusted OR = 1.3, 95 % CI = 1.0 to 1.8; p = 0.037), but not in men (adjusted OR = 1.2, 95 % CI = 0.9 to 1.5; p = 0.311). There was also no significant association between the examined polymorphism and the severity of CAD in whole or in men or women subgroups.Our findings suggest that the SNP (rs5888) within SCARB1 is independently associated with PCAD in a sex-dependent manner.
| S-EPMC4709878 | biostudies-literature
Project description:The correlation between the BDNF rs11030104 single nucleotide polymorphism (SNP) and serum lipid levels has been understudied. The present study was conducted to detect the association of the BDNF rs11030104 SNP and several environmental factors with serum lipid levels in the Jing and Han nationalities. Genotypes of the BDNF rs11030104 SNP in 709 unrelated subjects of Han and 706 unrelated participants of Jing populations were determined by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and further verified by direct sequencing. There was no significant difference in either genotypic or allelic frequencies between the Han and Jing populations. The genotypic and allelic frequencies of the SNP in Jing but not in Han populations were different between male and female subgroups (P<0.05 for each). The levels of serum total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) in the Jing population were different among the genotypes, the G allele carriers had lower TC and LDL-C levels than the G allele non-carriers. Subgroup analyses showed that the differences in serum TC and LDL-C levels among the genotypes were observed in the Jing males but not in females. Serum lipid profiles were also significantly associated with some environmental factors in the Han and Jing populations, or in male and female subgroups of the two ethnic groups (P<0.05 for all). Our study exhibited a correlation between the BDNF rs11030104 SNP and serum TC and LDL-C levels in the Jing males. These results indicate that there may be a racial/ethnic- and/or sex-specific association of the BDNF rs11030104 SNP and serum lipid parameters.
| S-EPMC6958168 | biostudies-literature
Project description:Carbamoyl-phosphate synthase 1 gene (CPS1) rs1047891 single nucleotide polymorphism (SNP) has been associated with a number of metabolic disorders including obesity, insulin resistance, and hyperhomocysteine (HCY). Studies on association between this SNP and prevalence of dyslipidemia have been few, with no report from Chinese subjects. This study was to investigate association of rs1047891 SNP and several environment factors with serum lipid levels in Chinese Han and Maonan populations. Genotypes of rs1047891 SNP in 810 individuals of Maonan and 795 participants of Han nationality were determined by polymerase chain reaction-restriction fragment length polymorphism and then confirmed by direct sequencing. Frequencies of CC, CA, and AA genotypes were 71.32%, 25.16%, and 3.52% in Han and 61.36%, 31.85%, and 6.79% in Maonan populations (P < 0.01), respectively. The frequency of A allele was 16.10% in Han and 22.72% in Maonan individuals (P < 0.001), respectively. Subjects with CA/AA genotypes had lower high-density lipoprotein cholesterol (HDL-C) and apolipoprotein (Apo) A1 levels in Han. They had higher low-density lipoprotein cholesterol (LDL-C) levels and lower HDL-C levels in Maonan than subjects with CC genotype (P < 0.05-0.01). Subgroup analyses revealed that subjects with CA/AA genotypes had lower HDL-C and ApoA1 levels in Han females, higher LDL-C levels in Maonan males, and lower HDL-C levels in both Maonan males and females than subjects with CC genotype (P < 0.05-0.01). Serum lipid parameters were also correlated with several environmental factors in both ethnic groups. The difference in serum lipid profiles between Han and Maonan populations may partly result from different polymorphisms of CPS1 rs1047891 and SNP-enviromental interactions.
| S-EPMC6958253 | biostudies-literature
Project description:The RNA binding motif protein 5 gene (RBM5) rs2013208 single nucleotide polymorphism (SNP) has been associated with high-density lipoprotein cholesterol (HDL-C) levels in a previous genome-wide association study, but little is known about such association of the RBM5 rs2013208 SNP and serum lipid profiles in the Chinese populations. The present study was to detect the association of the RBM5 rs2013208 SNP and several environmental factors with serum lipid levels in the Jing and Han populations. Genotyping of the RBM5 rs2013208 SNP in 635 subjects of Jing and 648 participants of Han peoples was performed by polymerase chain reaction and restriction fragment length polymorphism, and then confirmed by direct sequencing. There were no significant differences in the genotypic and allelic frequencies of the RBM5 rs2013208 SNP between the two ethnic groups or between males and females. The RBM5 rs2013208G allele carriers had lower serum HDL-C levels in both Jing and Han than the G allele non-carriers. The G allele carriers in Jing had higher serum total cholesterol (TC) levels and higher apolipoprotein (Apo) A1/ApoB ratio than the G allele non-carriers (P < 0.05). Subgroup analysis according to sex showed that the G allele carriers had lower serum HDL-C levels in both Jing and Han females but not in males (P < 0.05). The G allele carriers had higher TC levels in Jing females but not in Jing males, and lower ApoA1/ApoB ratio in Jing males but not in Jing females. Serum lipid parameters were also correlated with several environmental factors in the Jing and Han populations, or in males and females in both ethnic groups. The association of the RBM5 rs2013208 SNP and serum lipid levels is different between the Jing and Han populations. These associations might have an ethnic- and/or sex-specificity.
| S-EPMC6965480 | biostudies-literature
Project description:BackgroundNiemann-pick C1-like 1 (NPC1L1) is a key protein for intestinal cholesterol transportation. Common single nucleotide polymorphisms (SNPs) in the NPC1L1 gene have been associated with cholesterol absorption and serum lipid levels. The present study was undertaken to explore the possible association of NPC1L1 rs2072183 1735 C > G SNP and several environmental factors with serum lipid levels in the Mulao and Han populations.MethodsGenotyping of the rs2072183 SNP was performed in 688 subjects of Mulao and 738 participants of Han Chinese. The interactions between NPC1L1 1735 C > G polymorphism and several environmental factors on serum lipid phenotypes were tested using the factorial design covariance analysis after controlling for potential confounders.ResultsThe frequency of G allele was lower in Mulao than in Han (29.72% vs. 37.26%, P < 0.001). The frequency of CC, CG and GG genotypes was 49.85%, 40.84% and 9.31% in Mulao, and 39.30%, 46.88% and 13.82% in Han (P < 0.001); respectively. The levels of low-density lipoprotein cholesterol (LDL-C), apolipoprotein (Apo) B and the ratio of ApoAI/ApoB in Han but not in Mulao were different among the three genotypes (P < 0.05 for all), the subjects with GG and CG genotypes had higher LDL-C, ApoB levels and lower ApoAI/ApoB ratio than the subjects with CC genotype. Subgroup analysis showed that the G allele carriers in Han had higher total cholesterol (TC), LDL-C and ApoB levels in males (P < 0.05) and lower ApoAI/ApoB ratio in both sexes (P < 0.05) than the G allele noncarriers. The G allele carriers in Mulao had higher TC and LDL-C levels in males (P < 0.05) and lower high-density lipoprotein cholesterol (HDL-C) levels in both sexes (P < 0.05) than the G allele noncarriers. Serum TC, LDL-C, ApoB levels and ApoAI/ApoB ratio were correlated with genotypes in Han males (P < 0.05) but not in females. Serum lipid parameters were also correlated with several environmental factors. The genotypes of rs2072183 SNP were interacted with gender or cigarette smoking to influence serum TC and HDL-C levels in Mulao, whereas the genotypes of rs2072183 SNP were interacted with several environmental factors to influence all seven lipid traits in Han (P < 0.05-0.01).ConclusionsThe present study suggests that the rs2072183 SNP in NPC1L1 gene and its association with serum lipid profiles are different between the Mulao and Han populations. The difference in serum lipid profiles between the two ethnic groups might partly result from different rs2072183 SNP or NPC1L1 gene-environmental interactions.
| S-EPMC3422998 | biostudies-literature
Project description:BackgroundLipid metabolism disorder commonly happens in subjects with Type 2 diabetes mellitus (T2DM) which may be linked to genetic variants of lipid metabolism-related genes. However, few studies have explored the relationship between lipid metabolism-related gene polymorphism and serum lipid profile in aging subjects with T2DM. The present study was designed to explore the impact of genetic polymorphism of cluster determinant 36 (CD36) (rs1049673, rs1054516, rs2151916), scavenger receptor class B type 1 (SCARB1) (rs5888), and major facilitator superfamily domain containing the 2a (MFSD2A) (rs12083239, rs4233508, rs12072037) on the relationship between circulating lipids in aging subjects with T2DM.Methods205 T2DM patients and 205 age and gender matched control subjects were recruited. Information on demographic characteristics was collected by using a self-administered questionnaire. Fasting venous blood samples were taken for lipid-related gene genotyping and serum lipid profile measurement. The Chi-square test was used to compare percentage differences and to calculate P-value for Hardy-Weinberg equilibrium. Logistic regression and multiple linear regression were used to explore the risk or correlation between variables, and general linear model (GLM) was used to compare the means of serum lipids between the groups.ResultsIn T2DM group, CD36 rs1054516 and MFSD2A rs12072037 were correlated with serum TC level. In control group, CD36 rs1049673 was correlated with serum HDL-C level. Meanwhile, T2DM subjects with MFSD2A rs12083239 (CG), MFSD2A rs4233508 (TT), and MFSD2A rs12072037 (AA) had higher TG level than control subjects. T2DM subjects with CD36 rs1049673 (CG, GG), CD36 rs1054516 (CT), CD36 rs2151916 (TT, CT), SCARB1 rs5888 (GG), MFSD2A rs12083239 (GG, CG), MFSD2A rs4233508 (TT), and MFSD2A rs12072037 (CA, AA) had lower HDL-C level than control subjects. T2DM subjects with MFSD2A rs12072037 (AA) had lower LDL-C level than control subjects. In dominant model, major genotype (GG) of SCARB1 gene was associated with the risk of T2DM (OR = 0.636, P = 0.032).ConclusionThe genetic polymorphism of CD36 (rs1049673, rs1054516, rs2151916), SCARB1 (rs5888), and MFSD2A (rs12083239, rs4233508, rs12072037) were associated with serum lipids in T2DM subjects. The SCARB1 rs5888 major genotype (GG) was a protective factor for T2DM. Large scale cohort study is required to determine the relationship between lipid metabolism-related gene polymorphism, serum lipid profile and T2DM in aging subjects.
| S-EPMC9515475 | biostudies-literature
Project description:ObjectiveTo investigate association of scavenger receptor class B, member 1 (SCARB1) genetic variants with serum carotenoid levels of lutein (L) and zeaxanthin (Z) and macular pigment optical density (MPOD).DesignA cross-sectional study of healthy adults aged 20 to 70.ParticipantsWe recruited 302 participants after local advertisement.MethodsWe measured MPOD by customized heterochromatic flicker photometry. Fasting blood samples were taken for serum L and Z measurement by high-performance liquid chromatography and lipoprotein analysis by spectrophotometric assay. Forty-seven single nucleotide polymorphisms (SNPs) across SCARB1 were genotyped using Sequenom technology. Association analyses were performed using PLINK to compare allele and haplotype means, with adjustment for potential confounding and correction for multiple comparisons by permutation testing. Replication analysis was performed in the TwinsUK and Carotenoids in Age-Related Eye Disease Study (CAREDS) cohorts.Main outcome measuresOdds ratios for MPOD area, serum L and Z concentrations associated with genetic variations in SCARB1 and interactions between SCARB1 and gender.ResultsAfter multiple regression analysis with adjustment for age, body mass index, gender, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, triglycerides, smoking, and dietary L and Z levels, 5 SNPs were significantly associated with serum L concentration and 1 SNP with MPOD (P<0.01). Only the association between rs11057841 and serum L withstood correction for multiple comparisons by permutation testing (P<0.01) and replicated in the TwinsUK cohort (P = 0.014). Independent replication was also observed in the CAREDS cohort with rs10846744 (P = 2×10(-4)), an SNP in high linkage disequilibrium with rs11057841 (r(2) = 0.93). No interactions by gender were found. Haplotype analysis revealed no stronger association than obtained with single SNP analyses.ConclusionsOur study has identified association between rs11057841 and serum L concentration (24% increase per T allele) in healthy subjects, independent of potential confounding factors. Our data supports further evaluation of the role for SCARB1 in the transport of macular pigment and the possible modulation of age-related macular degeneration risk through combating the effects of oxidative stress within the retina.Financial disclosure(s)Proprietary or commercial disclosures may be found after the references.
| S-EPMC3946979 | biostudies-literature
Project description:BackgroundScavenger receptor class B type 1 (SCARB1) plays an important role in high-density lipoprotein cholesterol (HDL-C) metabolism in selective cholesteryl ester uptake and in free cholesterol cellular efflux.Methods and resultsThis study aims to identify common (minor allele frequency ≥5%) and low-frequency/rare (minor allele frequency <5%) variants, using resequencing all 13 exons and exon-intron boundaries of SCARB1 in 95 individuals with extreme HDL-C levels selected from a population-based sample of 623 US non-Hispanic whites. The sequencing step identified 44 variants, of which 11 were novel with minor allele frequency <1%. Seventy-six variants (40 sequence variants, 32 common HapMap tag single nucleotide polymorphisms, and 4 relevant variants) were selected for genotyping in the total sample of 623 subjects followed by association analyses with lipid traits. Seven variants were nominally associated with apolipoprotein B (apoB; n=4) or HDL-C (n=3; P<0.05). Three variants associated with apoB remained significant after controlling false discovery rate. The most significant association was observed between rs4765615 and apoB (P=0.0059), while rs11057844 showed the strongest association with HDL-C (P=0.0035). A set of 17 rare variants (minor allele frequency ≤1%) showed significant association with apoB (P=0.0284). Haplotype analysis revealed 4 regions significantly associated with either apoB or HDL-C.ConclusionsOur findings provide new information about the genetic role of SCARB1 in affecting plasma apoB levels in addition to its established role in HDL-C metabolism.
| S-EPMC4270916 | biostudies-literature