Dataset Information

Caveolin-1 Variant Is Associated With the Metabolic Syndrome in Kuwaiti Children.

ABSTRACT: Caveolin-1 (CAV1) variants have been suggested to be associated with obesity and related metabolic disorders, but information based on human studies is limited. In the present study, we aimed to investigate the potential association between the CAV1 rs1997623 C/A variant and metabolic syndrome (MetS) in Kuwaiti children. DNA from saliva samples collected from 1313 Kuwaiti children (mean age: 12 years) were genotyped using the TaqMan SNP genotyping assay. The classification of MetS was based on the presence/absence of four indicators; (1) central obesity, (2) elevated systolic or diastolic blood pressure, (3) low salivary high-density lipoprotein cholesterol (HDLC), and (4) high salivary glucose. In this study, children with MetS scored ?3, children in the intermediate metabolic group scored 1 or 2 and children without MetS scored 0. About one-third of the children were obese. A total of 246 children (18.7%) were classified as having MetS; 834 children (63.5%) were in the intermediate metabolic group, and 233 children (17.7%) had no indication of MetS. Obesity was highly prevalent in the MetS group (91.9%) while 26.8% of children were obese in the intermediate metabolic group. None of the children were obese in the group without MetS. Analysis of the CAV1 rs1997623 variant revealed a significant association of the A-allele (p = 0.01, Odds Ratio (OR) = 1.66) and the heterozygous CA-genotype (p = 0.005, OR = 1.88) with MetS. Consistently, the A-allele (p = 0.002, OR = 1.71) and CA-genotype (p = 0.005, OR = 1.70) also showed significant association with the intermediate metabolic group. Furthermore, the A-allele (p = 0.01, OR = 1.33) and the CA-genotype (p = 0.008, OR = 1.55) were associated with low levels of saliva HDLC. Individuals who were heterozygous or homozygous for the variant (CA/AA) showed significantly lower levels of high HDLC compared to those harboring the CC-genotype (p = 0.023). Our study revealed a novel association of the CAV1 rs1997623 variant with the MetS and with low saliva HDLC levels in young Kuwaiti children and indicated the need for further in-depth studies to unravel the role of CAV1 gene in the genetic etiology of MetS.

SUBMITTER: Nizam R

PROVIDER: S-EPMC6308323 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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Caveolin-1 Variant Is Associated With the Metabolic Syndrome in Kuwaiti Children.

Nizam Rasheeba R Al-Ozairi Ebaa E Goodson Jo Max JM Melhem Motesam M Davidsson Lena L Alkhandari Hessa H Al Madhoun Ashraf A Shamsah Sara S Qaddoumi Malak M Alghanim Ghazi G Alhasawi Nouf N Abu-Farha Mohamed M Abubaker Jehad J Shi Ping P Hartman Mor-Li ML Tavares Mary M Bitar Milad M Ali Hamad H Arefanian Hossein H Devarajan Sriraman S Al-Refaei Faisal F Alsmadi Osama O Tuomilehto Jaakko J Al-Mulla Fahd F

Frontiers in genetics 20181221

Caveolin-1 (<i>CAV1</i>) variants have been suggested to be associated with obesity and related metabolic disorders, but information based on human studies is limited. In the present study, we aimed to investigate the potential association between the <i>CAV1</i> rs1997623 C/A variant and metabolic syndrome (MetS) in Kuwaiti children. DNA from saliva samples collected from 1313 Kuwaiti children (mean age: 12 years) were genotyped using the TaqMan SNP genotyping assay. The classification of MetS ...[more]

PMID: 30622557

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Project description:Background Aarskog–Scott syndrome, a rare X-linked genetic disorder, is identified by combined clinical manifestations of short stature, facial, skeletal, and genital anomalies. Annually, two or three new cases are diagnosed with Aarskog–Scott syndrome, which is associated with FGD1 variants. However, there is no specific treatment for Aarskog–Scott syndrome due to its unclear mechanism. Methods Clinical data were collected when the patient first visited the hospital. Trio whole-exome sequencing and Sanger sequencing were performed for the genetic cause of disease. To evaluate the pathogenicity of the variants in vitro, stable cell lines were constructed using lentivirus infection in 143B cell. Furthermore, Western blot was used to verify the expression of signaling pathway-related proteins, and the transcription levels of osteogenic-related genes were verified by luciferase reporter gene assay. Results A 7-year-old boy was manifested with facial abnormalities, intellectual disability, and short stature (−3.98 SDS) while the growth hormone level of stimulation test was normal. Trio whole-exome sequencing and Sanger sequencing identified a variant (c.1270A>G, p.Asn424Asp) in FGD1 gene. The Asn424 residue was highly conserved and the hydrogen bond in the FGD1 variant protein has changed, which led to decrease in the interaction with CDC42 protein. In vitro study showed that the Asn424Asp variant significantly decreased the transcription levels of OCN, COL1A1, and ALP activity, and it activated the phosphorylation of JNK1. Conclusion Molecular biological mechanisms between abnormal expression of FGD1and Aarskog–Scott syndrome remain poorly understood. In our study, c.1270A>G variant of FGD1 resulted in Aarskog–Scott syndrome, and the analysis of pathogenicity supports the deleterious effect of the variant. Furthermore, we demonstrated the weakened affinity of the mutant FGD1 and CDC42. Decreased expression of osteogenic-related gene and abnormal activation of JNK1 were also shown in this work.

Project description:BackgroundAdenoidectomy and adenotonsillectomy are two of the most common procedures that are performed by otolaryngologists around the world. Complications, ranging from major to minor ones, are affected by the preoperative symptoms and health status of the patient. We aimed to identify the prevalence of major postadenoidectomy and adenotonsillectomy complications, including bleeding, and minor complications, including malodor, fever, and snoring.Materials and methodsWe conducted a retrospective chart review of 825 patients who underwent surgery between January 2002 and 30 December 2016 at our institution.ResultsThe bleeding complications prevalence was 4.1% (14/344) among patients with adenotonsillectomy and 1.3% (6/480) among those who underwent adenoidectomy. Results revealed that tonsil grade 3 patients were at a reduced risk (86% reduced risk) of developing bleeding complications, compared to those with tonsil grade 2 [odds ratio (OR) = 0.141, 95% confidence interval (CI): (0.028, 0.715)]. Grade C tympanogram patients had ten times the odds of bleeding complications compared to those with tympanogram grade A [OR = 10.6, 95% CI: 0.917, 122.54], a marginally significant difference (probability value (PV) = 0.054). Upper respiratory tract infections (URTIs) patients had three times the odds of bleeding complications compared to those without URTIs [OR = 3.03, 95% CI: (0.979, 9.439)], also a marginally significant difference (PV = 0.055). Postoperatively, 71% experienced no malodor, 23% had malodor lasting 3-7 days, and 1% had malodor for 7-10 days. Our analysis showed that 71% of the patients did not complain of snoring, 25% had snoring for 3-7 days, and 2% had snoring for 7-10 days. 80% of the patients did not develop fever, 13% had fever for 3-7 days, and no patients experienced fever for longer than 7 days.ConclusionsNearly 4% of the patients developed bleeding after adenotonsillectomy and only 2% of the patients had only bleeding after adenoidectomy. Conversely, 15-25% of the patients developed minor complications, including malodor, snoring, and fever, independent of their preoperative symptoms.

Dataset Information

Caveolin-1 Variant Is Associated With the Metabolic Syndrome in Kuwaiti Children.

Publications

Caveolin-1 Variant Is Associated With the Metabolic Syndrome in Kuwaiti Children.

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