Variations in ADIPOR1 But Not ADIPOR2 are Associated With Hypertriglyceridemia and Diabetes in an Admixed Latin American Population

Mora-García, Gustavo; Ruiz-Diaz, Maria Stephany; Espitia-Almeida, Fabián; Gómez‐Camargo, Doris

doi:10.1900/rds.2017.14.311

Cited by 10 publications

(5 citation statements)

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“…Additionally, in a recent study of ADIPOR1 overexpression in pancreatic β-cells of WT or Akita mice, ADIPOR1 did not increase insulin secretion, reduce blood glucose, or improve β-cell survival 26 , an ascribed property of adiponectin 27 – 29 . Furthermore, although there have been reports of human ADIPOR1 single nucleotide polymorphisms (SNPs) associated with diabetes and insulin resistance 30 – 32 , there have also been a number of opposing studies finding no such relationship 8 , 33 – 37 , while yet another group failed to validate a previously identified insulin sensitivity-associated SNP but did detect a distinct relationship between this SNP and olfaction 38 , 39 . In addition to these inconsistencies with regards to the metabolic contributions of ADIPOR1 mutations, the AdipoR1 KO has also been shown to cause retinal degeneration in mice, which was not observed in the adiponectin KO 5 .…”

Section: Discussionmentioning

confidence: 99%

ADIPOR1 is essential for vision and its RPE expression is lost in the Mfrprd6 mouse

Sluch

Banks

et al. 2018

Sci Rep

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The knockout (KO) of the adiponectin receptor 1 (AdipoR1) gene causes retinal degeneration. Here we report that ADIPOR1 protein is primarily found in the eye and brain with little expression in other tissues. Further analysis of AdipoR1 KO mice revealed that these animals exhibit early visual system abnormalities and are depleted of RHODOPSIN prior to pronounced photoreceptor death. A KO of AdipoR1 post-development either in photoreceptors or the retinal pigment epithelium (RPE) resulted in decreased expression of retinal proteins, establishing a role for ADIPOR1 in supporting vision in adulthood. Subsequent analysis of the Mfrprd6 mouse retina demonstrated that these mice are lacking ADIPOR1 in their RPE layer alone, suggesting that loss of ADIPOR1 drives retinal degeneration in this model. Moreover, we found elevated levels of IRBP in both the AdipoR1 KO and the Mfrprd6 models. The spatial distribution of IRBP was also abnormal. This dysregulation of IRBP hypothesizes a role for ADIPOR1 in retinoid metabolism.

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Section: Discussionmentioning

confidence: 99%

ADIPOR1 is essential for vision and its RPE expression is lost in the Mfrprd6 mouse

Sluch

Banks

et al. 2018

Sci Rep

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“…In meta-analysis data from the risk of developing DM2, DM2 was associated with the CC genotype of the ADIPOR1 gene (rs2275737) in a mixed Latin American population [ 27 ]. The genotypes AA and GG of the ADIPOR1 gene rs2275738 polymorphism were connected with an increase in the HOMA–IR index and gestational diabetes in the Russian population [ 28 ].…”

Section: Discussionmentioning

confidence: 99%

Polymorphism in Adiponectin and Adiponectin Receptor Genes in Diabetes Mellitus Pathogenesis

et al. 2022

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The role played by hereditary factors in the development of diabetes mellitus type 2 (DM2) has not yet been fully established. Therefore, the purpose of our study was to investigate the prevalence of adiponectin and polymorphism in its gene receptors in connection with the primary symptoms of DM2 pathogenesis. Genomic DNA was isolated from the whole blood of 94 patients with an established diagnosis of DM2 using the phenol–chloroform method. Gene polymorphisms were determined using real-time polymerase chain reaction (PCR). The most common polymorphic variants in patients with DM2 were the genotypes AA (rs11061971) and GG (rs16928751) on the ADIPOR2 gene. A strong correlation was found between the rs16928751 polymorphism on the ADIPOR2 gene and increased body mass index (BMI). TG (rs2275737) ADIPOR1 gene genotype carriers were found to have the highest levels of glycosylated hemoglobin (HbA1), whereas TT (rs2275738) caused stable hyperglycemia. In addition, the rs16928751 ADIPOR2 gene polymorphism showed an association with the development of key mechanisms of DM2 in the Russian population, although a number of genomic searches failed to show any association of this gene with DM2. Unique gene variants associated with the risk of developing DM2 in the Crimean population were established.

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“…A cross-sectional study was carried out in Cartagena de Indias, a 1-million inhabitants city located on the Colombian Caribbean Coast 17 . A sample of 792 subjects was employed to achieve 80% power of discrimination of genetic association with 2.5/3.5 (heterozygotes/homozygotes) odds ratio, assuming an outcome with 25% prevalence, 25% minor allele frequency, complete linkage disequilibrium (D’= 1), and 5% alpha-coefficient, according to calculations described by other authors, and as was applied in a previous work 18 . Genetic Power Calculator software ( http://zzz.bwh.harvard.edu/gpc/cc2.html ) was used for this calculation 19 .…”

Section: Methodsmentioning

confidence: 99%

“…. Se empleó una muestra de 792 sujetos para alcanzar el 80% de poder de discriminación de la asociación genética con un odds ratio 2,5/3,5 (heterocigotos/homocigotos), asumiendo un resultado con 25% de prevalencia, 25% de frecuencia de alelos menores, desequilibrio de ligamiento completo (D'= 1) y un coeficiente alfa del 5%, según cálculos descritos por otros autores, y como se ha aplicado en un trabajos anteriores 18 ). .…”

Section: Materiales Y Métodosunclassified

Interaction analysis of FTO and IRX3 genes with obesity and related metabolic disorders in an admixed Latin American population: a possible risk increases of body weight excess

et al. 2022

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Background: Fat Mass and Obesity-related (FTO) has been one of the genes consistently related to common obesity. Single nucleotide polymorphisms (SNPs) in FTO have been linked with the IRX3 gene. Aim: This study was designed by testing the hypothesis that: i) common SNPs in FTO and IRX3 are associated with obesity and related disorders; ii) there is significant linkage disequilibrium between both genes. Methods: A cross-sectional study was carried out on the Colombian Caribbean Coast. Anthropometric and biochemical variables were measured, and obesity and metabolic disorders were diagnosed. Four SNPs were genotyped: 3 at FTO locus (rs17817449, rs8050136, rs9939609) and one at IRX3 locus (rs3751723). LD between these SNPs was estimated. A logistic regression model was applied to estimate associations. Results: A total of 792 subjects were included. FTO and IRX3 were not in LD (D’≤ 0.03; R2≤ 0.03). TT genotype (rs9939609) was found to be associated with waist circumference (p= 0.04; adj-p=0.01), and IRX3 SNP with Body Weight Excess (BWE) (OR= 1.06, adj-p= 0.03). One FTO-IRX3 haplotype was associated with BWE (G-A-A-T, rs17817449-rs8050136-rs9939609-rs3751723; OR= 0.67, p= 0.04). The statistical significance of these relations continued after admixture adjustment for a three-hybrid population (p= 0.03). Conclusions: FTO was related to waist circumference, and IRX3 was associated with BWE in Latin American adults. This relation remained statistically significant after performing an adjustment for sex, age, and genetic ancestry. Despite these genes not being in LD, findings of a haplotype involving FTO-IRX3 suggest a gene-gene interaction associated with an increased risk of BWE.

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Variations in ADIPOR1 But Not ADIPOR2 are Associated With Hypertriglyceridemia and Diabetes in an Admixed Latin American Population

Abstract: ADIPOR1 was consistently associated with diabetes and hypertriglyceridemia. This association was maintained even after adjusting for genetic stratification. There were no significant associations involving ADIPOR2.

Cited by 10 publications

References 68 publications

ADIPOR1 is essential for vision and its RPE expression is lost in the Mfrprd6 mouse

ADIPOR1 is essential for vision and its RPE expression is lost in the Mfrprd6 mouse

Polymorphism in Adiponectin and Adiponectin Receptor Genes in Diabetes Mellitus Pathogenesis

Interaction analysis of FTO and IRX3 genes with obesity and related metabolic disorders in an admixed Latin American population: a possible risk increases of body weight excess

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