ATP binding cassette G8 T400K polymorphism may affect the risk of gallstone disease among Chinese males

Wang, Yong; Jiang, Zhaoyan; Fei, Jian; Xiao, Lin; Cai, Qing; Jiang, Zhihong; Zhu, Zhenggang; Han, Tao; Zhang, Sheng-Dao

doi:10.1016/j.cca.2007.06.004

Cited by 61 publications

(53 citation statements)

References 29 publications

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“…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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Section: Meta-analysis: Characteristics Of Included Studiesmentioning

confidence: 99%

Section: Meta-analysis: Characteristics Of Included Studiesmentioning

confidence: 99%

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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“…On the other hand, our results for this polymorphism differ with Miwa et al (2005) who did not find any association with this genetic variant and lipid levels in patients from Japan. Similarly, Wang et al (2007) did not find significant differences in plasma and biliary lipid levels. Moreover, this polymorphism was evaluated in atorvastatin treatment without finding any significant association (Kakinami et al, 2004a).…”

Section: Discussionmentioning

confidence: 72%

“…On the opposite, Hubáceck et al showed an association between this polymorphism and changes in lipids levels in males. Interestingly, Wang et al (2007) showed a similar relation among gender and genetic variant in male production of gallstones. Similarly, Junyent et al described that only smokers and the homozygous CC genotype, showed lower values of HDL-C compared to carriers of A allele (39.9 ± 11.0 vs.46.2 ± 15.0 mg/dL; P < 0.001).…”

Section: Discussionmentioning

confidence: 72%

“…For instance, carrier's of common haplotype of NPC1L1, haplotype 2, show a LDL-C reduction related to ezetimibe into an expected range of 20% to 25%; however, subjects without haplotype 2, show a LDL-C reduction of 35% (Hegele et al, 2005). On the other hand, ezetimibe is effective in sitosterolemia, a disease characterized by intestinal plant sterol hyperabsorption state caused by mutations in ABCG5 and ABCG8 cholesterol transporters (Klett & Patel, 2004) Interestingly, gene polymorphism in ABCG5 and G8 has been associated to variations on plasma lipids levels (Berge et al, 2002;Weggemans et al, 2002;Hubácek et al, 2004;Acalovschi et al, 2006;Wang et al, 2007) and in hypercholesterolemic subjects; the D19H variant in ABCG8 is associated with greater LDL-C lowering response to atorvastatin therapy (Kajinami et al, 2004a(Kajinami et al, , 2004b.…”

Section: Introductionmentioning

confidence: 99%

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Effect of Five Single Nucleotide Polymorphisms of ABCG5 and ABCG8 Genes on Ezetimibe Lipid-Lowering Response

Caamaño¹,

Saavedra²,

Zambrano³

et al. 2012

Int. J. Morphol.

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SUMMARY:In this study we evaluated the possible association between five single nucleotide polymorphisms in ABCG5 (rs6720173) and ABCG8 (rs11887534, rs4148211, rs4148217 and rs6544718) genes and ezetimibe response in Chilean hypercholesterolemic subjects. A total of 60 non-related hypercholesterolemic subjects, aged 18 to 65 years old were included in this study. These subjects were treated with ezetimibe (10mg/day) during one month. The ABCG5 and ABCG8 genotypes were assessed by PCR-RFLP. The genotype distribution of the ABCG5/ABCG8 polymorphisms was in Hardy-Weinberg equilibrium. Our results showed that the investigated polymorphisms were not associated with the response to ezetimibe. Nevertheless, the T allele of rs6544718 polymorphism was related to higher baseline levels of LDL-cholesterol (p<0.001). In addition, the G allele for the rs4148211 polymorphism was associated with greater baseline concentrations of triglycerides (P=0.019). This allele was also associated with lower concentrations of HDL-cholesterol (P=0.027), after ezetimibe treatment. Our results suggest that the studied polymorphisms do not affect the therapeutic response to ezetimibe in the evaluated subjects.

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Gallstones

Portincasa¹,

Wang²

2015

Yamada' S Textbook of Gastroenterology

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ATP binding cassette G8 T400K polymorphism may affect the risk of gallstone disease among Chinese males

Cited by 61 publications

References 29 publications

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

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

Effect of Five Single Nucleotide Polymorphisms of ABCG5 and ABCG8 Genes on Ezetimibe Lipid-Lowering Response

Gallstones

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