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- W4328117329 abstract "Context The bone-derived adipokine lipocalin-2 is relevant for body weight regulation by stimulating the leptin-melanocortin pathway. Objective We aimed to (i) detect variants in the lipocalin-2 gene ( LCN2 ) which are relevant for body weight regulation and/or anorexia nervosa (AN); (ii) describe and characterize the impact of LCN2 and MC4R variants on circulating lipocalin-2 level. Methods Sanger sequencing of the coding region of LCN2 in 284 children and adolescents with severe obesity or 287 patients with anorexia nervosa. In-silico analyses to evaluate functional implications of detected LCN2 variants. TaqMan assays for rare non-synonymous variants (NSVs) in additional independent study groups. Serum levels of lipocalin-2 were measured by ELISA in 35 females with NSVs in either LCN2 or MC4R , and 33 matched controls without NSVs in the two genes. Results Fourteen LCN2 -variants (five NSVs) were detected. LCN2 -p.Leu6Pro and p.Gly9Val located in the highly conserved signal peptide region may induce functional consequences. The secondary structure change of lipocalin-2 due to LCN 2-p.Val89Ile may decrease solubility and results in a low lipocalin-2 level in a heterozygotes carrier (female recovered from AN). Lean individuals had lower lipocalin-2 levels compared to patients with obesity ( p = 0.033). Conclusion Lipocalin-2 levels are positively associated with body mass index (BMI). Single LCN2 -variants might have a profound effect on lipocalin-2 levels." @default.
- W4328117329 created "2023-03-22" @default.
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- W4328117329 date "2023-03-21" @default.
- W4328117329 modified "2023-09-25" @default.
- W4328117329 title "Lipocalin 2 – mutation screen and serum levels in patients with anorexia nervosa or obesity and in lean individuals" @default.
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- W4328117329 doi "https://doi.org/10.3389/fendo.2023.1137308" @default.
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