Akademik Veri Yönetim Sistemi
Genes, cilt.17, sa.5, 2026 (SCI-Expanded, Scopus)
Purpose: Obesity, characterized by abnormal fat accumulation with comorbidities, continues
to increase dramatically, particularly in the pediatric population. Identifying the
environmental and genetic causes underlying the development of obesity during early
childhood is crucial for establishing preventive and protective treatments for this complex
disease. We aimed to investigate genetic variants related to non-syndromic early-onset
childhood obesity. Methods: Whole-exome sequencing was performed in three independent
consanguineous families with obesity, including three index cases and two additional
affected siblings. Non-synonymous variants with minor allele frequency < 0.01 in all normal
populations were filtered using the Genomize-SEQ Platform. Variant confirmations
and familial segregations were analyzed by Sanger sequencing. Results: WES revealed a
shared ATXN3 gene variant and two known variants of the SH2B1 and ADIPOQ genes,
which were reported to be associated with obesity. Additionally, five heterozygous novel
gene variants of the ANKK1, NEGR1, OGDH, ABCB1, and GSK3B genes were identified,
which are predicted to cause excessive fat accumulation and disruption of energy balance
in individuals. Conclusions: We suggest that the cumulative effects of all obesity-associated
detected variants lead to the early-onset obesity phenotype observed in individuals.
Hence, periodic follow-up and treatment opportunities are recommended for index cases,
alongside the adoption of a more active lifestyle and healthy nutrition practices.