Single nucleotide polymorphisms in ABCG5 and ABCG8 genes in Chilean subjects with polygenic hypercholesterolemia and controls

Caamaño, J.; Pacheco, Alejandro; Lanas, Fernando; Salazar, Luis A.

doi:10.1515/cclm.2008.311

Cited by 9 publications

(9 citation statements)

References 31 publications

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“…The frequency of CC homozygous genotype for ABCG5 1950C>G was higher in hypercholesterolemic patients than in controls (42% vs. 10%, P <0.001). On the other hand, no significant differences for the ABCG8 251A>G were observed [54]. Allele frequencies of the ABCG8 D19H, Y54C, T400K, and A632V SNPs in patients with ischemic vascular diseases showed no significant differences compared with controls.…”

Section: Discussionmentioning

confidence: 68%

ATP-Binding Cassette Transporter G5 and G8 Polymorphisms and Several Environmental Factors with Serum Lipid Levels

Yin

Wei

et al. 2012

PLoS ONE

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BackgroundThe association of ATP-binding cassette (ABC) transporter single nucleotide polymorphisms (SNPs) and serum lipid profiles is inconsistent. The present study was undertaken to detect the association of ABCG5/G8 SNPs and several environmental factors with serum lipid levels.Methodology/Principal FindingsGenotyping of the ABCG5 (rs4131229 and rs6720173) and ABCG8 (rs3806471 and rs4148211) SNPs was performed in 719 unrelated subjects of Mulao nationality and 782 participants of Han nationality. There were no differences in the genotypic and allelic frequencies of four SNPs between the two ethnic groups besides the genotypic frequencies of rs4131229 SNP in Han. The levels of triglyceride (TG), apolipoprotein (Apo) A1, and ApoA1/ApoB ratio (rs4131229); low-density lipoprotein cholesterol (LDL-C) and ApoB (rs6720173); high-density lipoprotein cholesterol (HDL-C), ApoA1, ApoB, and ApoA1/ApoB ratio (rs3806471); and HDL-C, ApoA1, and ApoA1/ApoB ratio (rs4148211) in Han were different among their genotypes (P<0.05–0.001). The levels of LDL-C (rs6720173) and ApoA1 (rs3806471) in Mulao were also different among their genotypes (P<0.05 for each). The levels of TC, TG, HDL-C, ApoA1, and ApoA1/ApoB ratio (rs4131229); LDL-C and ApoB (rs6720173); HDL-C, ApoA1, and ApoA1/ApoB ratio (rs3806471); and TG, HDL-C, ApoA1, and ApoA1/ApoB ratio (rs4148211) in Han males; and ApoA1/ApoB ratio (rs4131229); LDL-C, ApoB, and ApoA1/ApoB ratio (rs3806471); HDL-C, ApoA1, and ApoA1/ApoB ratio (rs4148211) in Han females were different between the genotypes (P<0.05–0.001). The levels of LDL-C in Mulao females were also different between GG and GC/CC genotypes of rs6720173 (P<0.05). The correlation between serum lipid parameters and genotypes of four SNPs was observed in Han, especially in Han males. Serum lipid parameters were also correlated with several environmental factors.ConclusionsThe associations of four ABCG5/G8 SNPs and serum lipid levels are different between the Mulao and Han populations, or between males and females, suggesting that there may be a racial/ethnic- and/or sex-specific association between ABCG5/G8 SNPs and some serum lipid parameters.

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Section: Discussionmentioning

confidence: 68%

ATP-Binding Cassette Transporter G5 and G8 Polymorphisms and Several Environmental Factors with Serum Lipid Levels

Yin

Wei

et al. 2012

PLoS ONE

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“…In addition, due to their skewed distribution, triglyceride data could not be pooled. Twelve studies reported signifi cant associations with baseline triglyceride levels, which mostly involved the p.T400K polymorphism ( 13,29,33 ); however, this was not consistent throughout all included studies ( 8,11,12,27,(30)(31)(32). Finally, in our analyses, we assumed a dominant genetic model, as most of the included studies presented their data according to this model.…”

Section: Discussionmentioning

confidence: 97%

“…The number of study participants ranged from 26 to 1,046. Five studies were conducted in a population of Caucasians ( 5,7,11,13,27 ), three studies investigated Asian populations ( 8,28,29 ), two studies were conducted in a Hispanic population ( 30 ), and two in a mixed racial population ( 31,32 ). The remaining three studies did not report the ethnicity of the study subjects ( 9,12,33 ).…”

Section: Meta-analysis: Characteristics Of Included Studiesmentioning

confidence: 99%

“…The majority of the studies were conducted in mildly hypercholesterolaemic, otherwise healthy populations ( 5,12,13,27,28,(31)(32)(33). Five studies evaluated normocholesterolaemic subjects ( 9,11,29,30 ); two studies evaluated both ( 8,30 ). Most studies included normoweighted subjects; however, one study selected overweight, mildly hypercholesterolaemic women ( 31 ), and one study was conducted in obese, insulin-resistant men without type 2 diabetes mellitus (T2DM) ( 33 ).…”

Section: Meta-analysis: Characteristics Of Included Studiesmentioning

confidence: 99%

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ABCG5/G8 polymorphisms and markers of cholesterol metabolism: systematic review and meta-analysis

Jakulj

Vissers

Tanck

et al. 2010

Journal of Lipid Research

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This article is available online at http://www.jlr.org cated at the intestinal brush border membrane. In fact, cholesterol and plant sterols are taken up by the enterocyte through the Niemann-Pick C1 Like 1 (NPC1L1) transporter ( 1 ). The ATP-binding cassette (ABC) transporters G5 and G8 actively effl ux plant sterols and, to lesser extent cholesterol, back into the intestinal lumen. In addition, ABCG5 and ABCG8 are located at the canalicular membranes of hepatocytes, where they facilitate effl ux of cholesterol and plant sterols into bile ( 2 ).The ABCG5 and ABCG8 genes are located in a headto-head confi guration on chromosome 2p21 ( 3 ). Mutations in either of these genes can cause sitosterolemia, a rare autosomal, recessively inherited disorder, characterized by xanthomas, arthralgia, anemia, and premature atherosclerosis ( 3 ). The underlying mechanism involves increased intestinal absorption of plant sterols and concomitantly decreased biliary secretion of sterols due to the absence of a functional ABCG5/G8 transporter protein ( 4 ). In addition to rare sequence changes causing sitosterolemia, several more common sequence variants in ABCG5/G8 were identifi ed in both healthy and hypercholesterolaemic individuals. These single nucleotide polymorphisms (SNP) were found to be associated with plasma cholesterol and noncholesterol sterol levels ( 5-8 ), as well as with the response to various cholesterol-lowering strategies, including diet interventions ( 7, 9 ), consumption of plant sterols or stanols ( 10, 11 ), and treatment with statins ( 12 ).Abstract Genetic variation at the ABCG5/G8 locus has been associated with markers of cholesterol homeostasis. As data originate from small-scale studies, we performed a meta-analysis to study these associations in a large dataset. We fi rst investigated associations between fi ve common ABCG5/G8 polymorphisms (p.Q604E, p.D19H, p.Y54C, p. T400K, and p.A632V) and plasma sterol levels in 245 hypercholesterolaemic individuals. No signifi cant associations were found. Subsequently, our data were pooled into a meta-analysis that comprised 3,364 subjects from 16 studies Intestinal cholesterol absorption is an active and selective process, mediated by several transporter proteins lo-

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“…Similarly, a study by Salazar et al 16 found correlation between 45 TMJ polymorphism in the adiponectin (ADI-POQ) gene and CAD in a Chilean population. Another Chilean study conducted by Caamaño et al 17 found an association between ABCG5 1950 > G polymorphism and hypercholesterolemia in that specific population. Likewise, Fujita et al 18 found a significant correlation between the genotypes of A419P variants and the levels of total cholesterol.…”

Section: Resultsmentioning

confidence: 81%

Single-nucleotide polymorphisms: a perspective of cardiovascular prevention

Grezzana

Vieira

Portal

2015

Rev. Assoc. Med. Bras.

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Grezzana GB et al. 458 reV assoC med Bras 2015; 61 (5) Results: in order to perform this analysis, 19 studies were included from a total of 89 identified citations. The evaluation of the results suggests that low plasmatic levels of LDL-c are associated with a reduction in the risk of heart attacks, although this was not observed for the rise of plasmatic levels of HDL-c. Conclusion: polymorphisms in different populations and clinical perspectives may bring important contributions for a better understanding and adequacy of plasmatic lipoproteins aiming at reducing cardiovascular risk.

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Single nucleotide polymorphisms in ABCG5 and ABCG8 genes in Chilean subjects with polygenic hypercholesterolemia and controls

Abstract: Our data showed that the ABCG5 1950C > G polymorphism is associated with HC in the studied population. Nevertheless, this study is limited by its sample size.

Cited by 9 publications

References 31 publications

ATP-Binding Cassette Transporter G5 and G8 Polymorphisms and Several Environmental Factors with Serum Lipid Levels

ATP-Binding Cassette Transporter G5 and G8 Polymorphisms and Several Environmental Factors with Serum Lipid Levels

ABCG5/G8 polymorphisms and markers of cholesterol metabolism: systematic review and meta-analysis

Single-nucleotide polymorphisms: a perspective of cardiovascular prevention

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