ABCA1 variant rs9282541 is associated with metabolic syndrome in Maya children.

Autor: Peña-Espinoza BI; Laboratorio de Genómica de la Diabetes, Facultad de Química en la Unidad Académica de Ciencia y Tecnología de la UNAM en Yucatán, Ciudad de Mexico, Mexico., Torre-Horta E; Secretaría de Salud de Yucatán, Merida, Mexico., Ortiz-López MG; Laboratorio de Endocrinología, Hospital Juárez de México, Mexico City, Mexico., Menjivar M; Laboratorio de Genómica de la Diabetes, Facultad de Química en la Unidad Académica de Ciencia y Tecnología de la UNAM en Yucatán, Ciudad de Mexico, Mexico.; Laboratorio de diabetes, Facultad de Química de la Universidad Nacional Autónoma de México, Mexico City, Mexico.
Jazyk: angličtina
Zdroj: Annals of human genetics [Ann Hum Genet] 2024 Jul; Vol. 88 (4), pp. 279-286. Date of Electronic Publication: 2024 Jan 09.
DOI: 10.1111/ahg.12546
Abstrakt: Introduction: Metabolic syndrome (MetS) is a metabolic disorder encompassing risk factors for cardiovascular disease and type 2 diabetes (T2D). In Mexico, the MetS is a national health problem in adults and children. Environmental and genetic factors condition the MetS. However, studies to elucidate the contribution of genetic factors to MetS in Mexico are scarce. A recent study showed that variant rs9282541 (A-allele) in ATP-binding cassette transporter A1 (ABCA1) was associated with T2D in the Maya population in addition to low levels of high-density lipoprotein cholesterol (HDL-C). Thus, this study aimed to determine whether the genetic variant of ABCA1 A-allele (rs9282541, NM_005502.4:c.688C > T, NP_005493.2:p.Arg230Cys) is associated with MetS and its components in Mexican Maya children.
Methods: The study was conducted in 508 children aged 9-13 from the Yucatán Peninsula. MetS was identified according to the de Ferranti criteria. Genotyping was performed using TaqMan assay by real-time PCR. Evaluation of genetic ancestry group was included.
Results: The frequency of MetS and overweight-obesity was 45.9% and 41.6%, respectively. The genetic variant rs9282541 was associated with low HDL-C and high glucose concentrations. Remarkably, for the first time, this study showed the association of ABCA1 rs9282541 with MetS in Maya children with an OR of 3.076 (95% CI = 1.16-8.13 p = 0.023). Finally, this study reveals a high prevalence of MetS and suggests that variant rs9282541 of the ABCA1 gene plays an important role in the developing risk of MetS in Maya children.
(© 2024 John Wiley & Sons Ltd/University College London.)
Databáze: MEDLINE
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