Novel Association of the R230C Variant of the ABCA1 Gene with High Triglyceride Levels and Low High-density Lipoprotein Cholesterol Levels in Mexican School-age Children with High Prevalence of Obesity

Gamboa-Meléndez, Marco Alberto; Galindo-Gómez, Carlos; Juárez-Martínez, Liliana; Gómez, F. Enrique; Díaz-Díaz, Eulises; Ávila-Arcos, Marco Antonio; Avila-Curiel, Abelardo

doi:10.1016/j.arcmed.2015.07.008

Cited by 11 publications

(13 citation statements)

References 38 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The results showed that the single defective allele in ABCA1 may be associated with reduced HDL cholesterol levels (23). Similar results were observed in the Mexican school-age children with a high prevalence of obesity; the study reported a tight association of R230C variant of the ABCA1 gene with the low HDL cholesterol levels (32). In this study, we observed that the serum HDL cholesterol levels were significantly lower in the NAFLD patients with ABCA1 rs2230808 T allele than in the NAFLD patients without the variant, which is in accordance with previous studies.…”

Section: Discussionsupporting

confidence: 73%

“…Kolovou et al conducted a study to investigate the association between ABCA1 gene polymorphism and the plasma lipid variables in Greek nurses; the results indicated that the R1578K variant (rs2230808) of ABCA1 gene tightly affected the lipid variables; this may be helpful in assessing the risk of premature coronary heart disease and atherosclerosis (30). The association of ABCA1 R230C variant (rs9282541) with high triglyceride levels was observed in the Mexican school-age children, which confers ABCA1 R230C as a potential risk factor for the high TG syndrome (32). Although many studies of ABCA1 polymorphism have been conducted in patients with dyslipidemia, coronary heart disease, and atherosclerosis, which were tightly associated with the development of NAFLD, the effects of ABCA1 variants on NAFLD have not been reported.…”

Section: Discussionmentioning

confidence: 93%

See 1 more Smart Citation

Association Between Four ABCA1 gene Polymorphisms and Risk of Non-Alcoholic Fatty Liver Disease in a Chinese Han Population

Liu¹,

Lu²,

Liao

et al. 2018

Hepat Mon

View full text Add to dashboard Cite

Background: Non-alcoholic fatty liver disease (NAFLD) as a severe health problem is the leading cause of morbidity and mortality from the chronic liver disease worldwide. NAFLD is tightly associated with dyslipidemia although the etiology is still unclear. ATP binding cassette subfamily A member 1 (ABCA1) is involved in cholesterol efflux, fatty acid oxidation, and inflammation. Although some reports show that the ABCA1 polymorphisms affect the lipids metabolism and severity of clinical liver diseases, the effects of ABCA1 polymorphisms on the development of NAFLD are unknown. Objectives: The current study was performed to investigate the association between the ABCA1 polymorphisms and the development of NAFLD and the effect of the four ABCA1 SNPs on the serum lipid levels. Methods: The ABCA1 polymorphisms (rs1800977, rs2066714, rs2066715, and rs2230808) were determined in 265 NAFLD patients and 126 healthy controls using the sequencing and polymerase chain reaction analysis. Serum lipid profiles and liver enzymes were examined using standard clinical laboratory methods. Results: There was a significant difference (P < 0.05) in the genotype of the ABCA1 rs1800977 G/A polymorphisms between NAFLD patients and healthy controls. No significant differences were found in genotypes and allele frequencies of the ABCA1 rs2066714T/C, rs2066715T/C, and rs2230808C/T between NAFLD patients and healthy controls. The ABCA1 rs1800977 A was independently associated with NAFLD after adjusting for the effects of age, gender, and BMI. Compared to the noncarriers in NAFLD patients, the carriers of ABCA1 rs2066714 C showed a significantly higher level of LDL (P = 0.045) and the carriers of ABCA1 rs2230808 T showed a significantly lower level of HDL (P = 0.039). Conclusions:We first demonstrated the association between the ABCA1 polymorphisms and the risk of NAFLD in a Chinese Han population. The ABCA1 rs1800977 may be a protective factor against the development of NAFLD. The ABCA1 rs2066714 C allele could increase the serum LDL cholesterol level, and the ABCA1 rs2230808 T allele could decrease the serum HDL cholesterol level in NAFLD patients.

show abstract

Section: Discussionsupporting

confidence: 73%

Section: Discussionmentioning

confidence: 93%

Association Between Four ABCA1 gene Polymorphisms and Risk of Non-Alcoholic Fatty Liver Disease in a Chinese Han Population

Liu¹,

Lu²,

Liao

et al. 2018

Hepat Mon

View full text Add to dashboard Cite

show abstract

“…Furthermore, apart from the CETP , the ABCA1 similarly implicated in LHDLC has also been linked to the disorder recently. Specifically, the rs7024300 has been associated with LHDLC in Mexican children and diffuse atherosclerosis associated with LHDLC syndrome . By virtue of the potential functional role ABCA1 as a key gatekeeper for regulating intracellular cholesterol transport, animal studies may also enhance our understanding of how mutations in this gene affect circulating lipid levels.…”

Section: Discussionmentioning

confidence: 99%

A common variant association study reveals novel susceptibility loci for low HDL‐cholesterol levels in ethnic Arabs

et al. 2016

View full text Add to dashboard Cite

The genetic susceptibility to acquiring low high density lipoprotein-cholesterol (LHDLC) levels is not completely elucidated yet. In this study, we performed a common variant association study for harboring this trait in ethnic Arabs. We employed the Affymetrix high-density Axiom Genome-Wide ASI Array (Asian population) providing a coverage of 598,000 single nucleotide variations (SNPs) to genotype 5495 individuals in a two-phase study involving discovery and validation sets of experiments. The rs1800775 [1.31 (1.22-1.42); p = 3.41E-12] in the CETP gene and rs359027 [1.26 (1.16-1.36); p = 2.55E-08] in the LMCD1 gene were significantly associated with LHDLC levels. Furthermore, rs3104435 [1.26 (1.15-1.38); p = 1.19E-06] at the MATN1 locus, rs9835344 [1.16 (1.08-1.26); p = 8.75E-06] in the CNTN6 gene, rs1559997 [1.3 (1.14-1.47); p = 9.48E-06] in the SDS gene and rs1670273 [1.2 (1.1-1.31); p = 4.81E-06] in the DMN/SYNM gene exhibited suggestive association with the disorder. Seven other variants including rs1147169 in the PLCL1 gene, rs10248618 in the DNAH11, rs476155 in the GLIS3, rs7024300 in the ABCA1, intergenic rs10836699, rs11603691 in P2RX3 and rs750134 in CORO1C gene exhibited borderline protective properties. Validation and joint meta-analysis resulted in rs1800775, rs3104435 and rs359027 retaining their predisposing properties, while rs10836699 and rs11603691 showed protective properties. Our data show several predisposing variants across the genome for LHDLC levels in ethnic Arabs.

show abstract

“…In addition, several candidate gene studies also reported ABCA1 SNPs associated with LDL-C and TG levels, with inconsistent results. While various studies failed to find associations of ABCA1 gene variation with TG and/or LDL-C levels [40,[73][74][75], ABCA1 polymorphisms were associated with TG levels but not with LDL-C levels in Brazilians [76], Chinese [77], Turkish [78], Iranians [79] and Mexican school-aged children [80]. The functional ABCA1/R230C variant was associated with lower triglyceride levels only in Pimas and Mayans, but not in Mexican mestizos [41].…”

Section: Abca1 Ldl-c and Triglyceride (Tg) Serum Levelsmentioning

confidence: 99%

The Role of the ATP-Binding Cassette A1 (ABCA1) in Human Disease

Jacobo-Albavera

Domínguez‐Pérez

Medina-Leyte

et al. 2021

IJMS

101

View full text Add to dashboard Cite

Cholesterol homeostasis is essential in normal physiology of all cells. One of several proteins involved in cholesterol homeostasis is the ATP-binding cassette transporter A1 (ABCA1), a transmembrane protein widely expressed in many tissues. One of its main functions is the efflux of intracellular free cholesterol and phospholipids across the plasma membrane to combine with apolipoproteins, mainly apolipoprotein A-I (Apo A-I), forming nascent high-density lipoprotein-cholesterol (HDL-C) particles, the first step of reverse cholesterol transport (RCT). In addition, ABCA1 regulates cholesterol and phospholipid content in the plasma membrane affecting lipid rafts, microparticle (MP) formation and cell signaling. Thus, it is not surprising that impaired ABCA1 function and altered cholesterol homeostasis may affect many different organs and is involved in the pathophysiology of a broad array of diseases. This review describes evidence obtained from animal models, human studies and genetic variation explaining how ABCA1 is involved in dyslipidemia, coronary heart disease (CHD), type 2 diabetes (T2D), thrombosis, neurological disorders, age-related macular degeneration (AMD), glaucoma, viral infections and in cancer progression.

show abstract

Novel Association of the R230C Variant of the ABCA1 Gene with High Triglyceride Levels and Low High-density Lipoprotein Cholesterol Levels in Mexican School-age Children with High Prevalence of Obesity

Cited by 11 publications

References 38 publications

Association Between Four ABCA1 gene Polymorphisms and Risk of Non-Alcoholic Fatty Liver Disease in a Chinese Han Population

Association Between Four ABCA1 gene Polymorphisms and Risk of Non-Alcoholic Fatty Liver Disease in a Chinese Han Population

A common variant association study reveals novel susceptibility loci for low HDL‐cholesterol levels in ethnic Arabs

The Role of the ATP-Binding Cassette A1 (ABCA1) in Human Disease

Contact Info

Product

Resources

About