Genome-wide association studies have identified loci that are firmly associated with obesity. The Src-homology-2 B adaptor protein 1 (SH2B1) loci is abundantly expressed in the brain, liver, heart, muscle, and fat tissues. Gestational diabetes mellitus (GDM) is a growing health concern that usually appears during the latter half of pregnancy, and it is characterized by carbohydrate intolerance of variable severity. The SH2B1 gene polymorphism has been linked with an increased risk of weight gain in several but not all population studies. This study aimed to investigate the genetic association of rs4788102 variants in the SH2B1 gene with GDM in Saudi pregnant women. Genomic DNA samples from 200 women with GDM and 300 women without GDM were genotyped using the TaqMan method. The distribution of the GG, GA, and AA genotypes was significantly different between GDM and non-GDM women (p < 0.05). Thus, we identified rs4788102 variants as additional risk factors for GDM in Saudi women, and we suggest that these variants may have a prognostic value.
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http://dx.doi.org/10.1016/j.sjbs.2014.07.007 | DOI Listing |
Obes Res Clin Pract
December 2024
Department of Pediatrics, The Second Affiliated Hospital of Anhui Medical University, Hefei, Anhui Province, China.
Objective: This study aimed to examine clinical data and analyze exome sequencing (ES) findings in children diagnosed with early-onset obesity.
Methods: We screened children presenting with severe (body mass index-standard deviation score >3) and early-onset (<7 years) obesity using ES. Participants were categorized into either the "no variant identified" group or the "variant identified" group, facilitating the exploration of correlations between clinical-demographic characteristics and genetic mutations linked to early-onset obesity.
Pediatr Obes
December 2024
Section of Pediatric Diabetes and Metabolism, Department of Surgery, Dentistry, Pediatrics, and Gynecology, University of Verona, Verona, Italy.
Background: The diagnosis of monogenic obesity is burdened by frequent variants of uncertain significance (VUS). We describe our real-life approach of variant reassessment over time and we assess whether inconclusive variants are decreasing in monogenic obesity.
Methods: We tested for monogenic obesity (genes: LEPR, POMC, ADCY3, PCSK1, CARTPT, SIM1, MRAP2, LEP, NTRK2, BDNF, KSR2, MAGEL2, SH2B1, MC4R, MC3R) in 101 children/adolescents (11.
Ecotoxicol Environ Saf
November 2024
Department of Nutrition and Food Science, Faculty of Pharmacy, University of Granada, Granada, Spain; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain; Institute of Nutrition and Food Technology "Jose Mataix Verdú," Biomedical Research Center, University of Granada, Granada, Spain.
Gene-environment interaction studies are emerging as a promising tool to shed light on the reasons for the rapid increase in excess body weight (overweight and obesity). We aimed to investigate the influence of several polymorphisms on excess weight in Spanish children according to a short- and long-term exposure to bisphenols and parabens, combining individual approach with the joint effect of them. This case-control study included 144 controls and 98 cases children aged 3-12 years.
View Article and Find Full Text PDFObes Facts
December 2024
Nutrition Department, Trinity Clinic, Buenos Aires, Argentina.
Introduction: Monogenic obesity is caused by a unique genetic dysfunction, often appears in childhood, and can be accompanied by neuroendocrine, skeletal, developmental, and behavioral disorders, among other manifestations. Some variants in the SH2B1 gene have been suggested as strong candidates for the development of autosomal dominant obesity.
Case Presentation: We describe here the clinical response after 1 year of setmelanotide treatment in a 22-year-old patient with an SH2B1 variant.
J Obes Metab Syndr
September 2024
Nutrition Department, Health Sciences Faculty, Ariel University, Ariel, Israel.
Background: Src homology 2 B adaptor protein 1 () gene and variants have been found to be associated with common obesity. We aimed to investigate the association between the common missense variant rs7498665 and common obesity risk as well as interactions with lifestyle variables in an Israeli population.
Methods: An adult cohort (n=3,070; ≥18 years) with the rs7498665 variant and lifestyle, behavior (online questionnaire), and blood glucose data was analyzed.
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