Acta Med. 2021, 64: 158-164
https://doi.org/10.14712/18059694.2021.27
Obesity in Children with Leptin Receptor Gene Polymorphisms
References
1. Compr Physiol 2017; 8(1): 351–69.
< Y, Chua S Jr. Leptin Function and Regulation. https://doi.org/10.1002/cphy.c160041>
2. Nutrients 2019; 11(11): 2704.
< AG, Crujeiras AB, Casanueva FF, et al. Leptin, Obesity, and Leptin Resistance: Where Are We 25 Years Later? https://doi.org/10.3390/nu11112704>
<PubMed>
3. Eur J Endocrinol 2020; 182(1): 47–56.
< L, Abawi O, van der Kamp HJ, et al. Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics. https://doi.org/10.1530/EJE-19-0678>
4. Adolesc Med State Art Rev 2017; 28(2): 379–405.
VV. Genetic and epigenetic causes of obesity.
5. Eur J Endocrinol 2020; 182(1): 47–56.
< L, Abawi O, van der Kamp HJ, et al. Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics. https://doi.org/10.1530/EJE-19-0678>
6. Molecular Genetics and Metabolism 2017; 1(121): 51–6.
< GBN, Busk OL, Tveten K, et al. Next-generation sequencing of the monogenic obesity genes LEP, LEPR, MC4R, PCSK1 and POMC in a Norwegian cohort of patients with morbid obesity and normal weight controls. https://doi.org/10.1016/j.ymgme.2017.03.007>
7. J Endocr Soc 2018; 3(1): 27–41.
< A, Funcke JB, Borck G, et al. Functional and Phenotypic Characteristics of Human Leptin Receptor Mutations. https://doi.org/10.1210/js.2018-00123>
<PubMed>
8. N Engl J Med 2007; 356(3): 237–47.
< IS, Wangensteen T, Collins S, et al. Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. https://doi.org/10.1056/NEJMoa063988>
<PubMed>
9. Zdorov’e rebenka 2020; 4(15): 72–84. (In Ukrainian).
AЕ, Nikulina AA. (Phenotypes of obesity in children, clinical manifestations and genetic associations).
10. Acta Medica (Hradec Králové) 2019; 62(4): 150–5.
AЕ, Nikulina AA. Genotype C/C 13910 of the Lactase Gene as a Risk Factor for the Formation of Insulin-Resistant Obesity in Children.
11. Genetics in Medicine 2015; 17(6): 505–7.
< . Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics. https://doi.org/10.1038/gim.2015.41>
12. Journal of Pediatric Health Care 2019; 33(4): 494–504.
< C, Fruh Sh, Jones L, et al. Clinical Practice Recommendations for Pediatric Dyslipidemia. https://doi.org/10.1016/j.pedhc.2019.02.009>
13. American Diabetes Association. 2. Classification and Diagnosis of Diabetes: Standards of Medical Care in Diabetes – 2019. Diabetes Care Jan 2019; 42(Suppl. 1): 13–28.
14. Diabet Med 2007; 24(5): 451–63.
< KG, Zimmet P, Shaw J. International Diabetes Federation: a consensus on Type 2 diabetes prevention. https://doi.org/10.1111/j.1464-5491.2007.02157.x>
15. Curr Obes Rep 2019; 8(4): 472–9.
< P, Weihrauch-Blüher S. Metabolic Syndrome in Children and Adolescents: Diagnostic Criteria, Therapeutic Options and Perspectives. https://doi.org/10.1007/s13679-019-00357-x>
16. Eur J Clin Nutr 2021; 75: 373–84.
< P, Jayawardena R, Gamage N, et al. The range of non-traditional anthropometric parameters to define obesity and obesity-related disease in children: a systematic review. https://doi.org/10.1038/s41430-020-00715-2>
17. Lissner L, Lanfer A, Gwozdz W et al. Television habits in relation to overweight, diet and taste preferences in European children: the IDEFICS study. 2012; 27(9): 705–15.
18. Int J Behav Nutr Phys Act 2016; 13(1): 97.
< J, Börnhorst C, Günther K, et al. IDEFICS consortium. Longitudinal associations of lifestyle factors and weight status with insulin resistance (HOMA-IR) in preadolescent children: the large prospective cohort study IDEFICS. https://doi.org/10.1186/s12966-016-0424-4>
<PubMed>
19. Int J Obes (Lond) 2006; 30(4): 598–602.
< HD, Cole TJ, Fry T, et al. Body fat reference curves for children. https://doi.org/10.1038/sj.ijo.0803232>
20. Int J Prev Med 2012; 3(12): 846–52.
< P, von Eckardstein A, Haas G-M. Percentiles of Percentage Body Fat in German Children and Adolescents: An International Comparison. https://doi.org/10.4103/2008-7802.104855>
<PubMed>
21. WHO child growth standards: length/height-for-age, weight-for-age, weight-for-length, weight-for-height and body mass index-for-age: methods and development. Geneva: WHO; 2006.
22. BMC Bioinformatics 2014; 15: 182.
J, Rong L, Shou-Wei D, et al. Skewer: a fast and accurate adapter trimmer for next-generation sequencing paired-end reads. In
23. Bioinformatics 2009; 25(14): 1754–60.
< H, Durbin R. Fast and accurate short read alignment with Burrows‐Wheeler transform. https://doi.org/10.1093/bioinformatics/btp324>
<PubMed>
24. Bioinformatics 2014; 30(19): 2813–5.
< LE, Wilkerson MD, Hayes DN, et al. ABRA: improved coding indel detection via assembly-based realignment. https://doi.org/10.1093/bioinformatics/btu376>
<PubMed>
25. F1000Res 2018; 7: 1338.
< SW, Andrews S. FastQ Screen: A tool for multi-genome mapping and quality control. https://doi.org/10.12688/f1000research.15931.1>
26. Wickham H. ggplot2. Elegant graphics for data analysis. New York. 2016 Springer.
27. R Core Team: R: A Language and Environment for Statistical Computing. Vienna, Austria. 2015. (Accessed October 6, 2020, at https://www.R-project.org/).
28. Nucleic Acids Res 2019; 47(D1): D886–D894.
< P, Witten D, Cooper GM, Shendure J, Kircher M. CADD: predicting the deleteriousness of variants throughout the human genome. https://doi.org/10.1093/nar/gky1016>
<PubMed>
29. The CADD webserver (Accessed September 11, 2020, at https://cadd .gs.washington.edu/snv).
30. FILTUS (Accessed October 6, 2020, at https://github.com/magnusdv /filtus).
31. SeqVISTA (Accessed October 6, 2020, at http://zlab.bu.edu/Seq VISTA).
32. Mutationassessor.org functional impact of protein mutations release (Accessed October 6, 2020, at http://mutationassessor.org/r3/).
33. Izvestiya VUZov. Volga region. Technical Science 2016; 1(37): 103–10. (In Russian).
VI, Ivanov AI, Serikova YuI. Compensation of methodological errors in calculating standard deviations and correlation coefficients arising from the small volume of samples.
34. Ann N Y Acad Sci 2018; 1411(1): 166–83.
< ST, Onuzuruike AU, Magge ShN. Cardiometabolic risk in obese children. https://doi.org/10.1111/nyas.13602>
<PubMed>
35. Diabetes Voice 2007; 52(4): 29–32.
P, Alberti GM, Kaufman F, et al. The metabolic syndrome in children and adolescents: the IDF consensus.
36. BMC Pediatr 2018; 18(1): 61.
< LH, Júlíusson PB, Johnson LK, et al. Gender-related differences in cardiometabolic risk factors and lifestyle behaviors in treatment-seeking adolescents with severe obesity. https://doi.org/10.1186/s12887-018-1057-3>
<PubMed>
37. Appetite 2017; 108: 477–82.
< G, Caranti DA, de Cassia Cesar H, et al. Leptin as a cardiovascular risk marker in metabolically healthy obese: Hyperleptinemia in metabolically healthy obese. https://doi.org/10.1016/j.appet.2016.11.013>
38. Curr Diab Rep 2018; 18(10): 85.
< U, Kidd E, Malagamuwa T, Walley A. Genetics of Severe Obesity. https://doi.org/10.1007/s11892-018-1053-x>
<PubMed>
39. Nutrients 2018; 10(8): 1117.
< A, de Cássia Ribeiro-Silva R, Nunes de Oliveira Costa G, et al. Food Consumption as a Modifier of the Association between LEPR Gene Variants and Excess Body Weight in Children and Adolescents: A Study of the SCAALA Cohort. https://doi.org/10.3390/nu10081117>
<PubMed>
40. Hum Genet 2010; 127(3): 287–94.
< T, Naka I, Yamauchi T, et al. The Q223R polymorphism in LEPR is associated with obesity in Pacific Islanders. https://doi.org/10.1007/s00439-009-0768-9>
41. Arch Physiol Biochem 2021; 127(1): 28–36.
< EMM, Diab T, Elsaid A, et al. Fat mass and obesity-associated (FTO) and leptin receptor (LEPR) gene polymorphisms in Egyptian obese subjects. https://doi.org/10.1080/13813455.2019.1573841>
42. Endokrynol Pol 2014; 65(1): 11-6.
< M, Kurylowicz A, Polosak J, et al. Functional polymorphisms of the leptin and leptin receptor genes are associated with longevity and with the risk of myocardial infarction and of type 2 diabetes mellitus. https://doi.org/10.5603/EP.2014.0002>
43. Lung 2019; 197(5): 577–84.
< J, Yang S, Jiao X, et al. Targeted Sequencing Analysis of the Leptin Receptor Gene Identifies Variants Associated with Obstructive Sleep Apnoea in Chinese Han Population. https://doi.org/10.1007/s00408-019-00254-z>
<PubMed>
44. Lung 2019; 197(5): 577–84.
< J, Yang S, Jiao X, et al. Targeted Sequencing Analysis of the Leptin Receptor Gene Identifies Variants Associated with Obstructive Sleep Apnoea in Chinese Han Population. https://doi.org/10.1007/s00408-019-00254-z>
<PubMed>
45. Nature 2012; 489(7414): 57–74.
< . An integrated encyclopedia of DNA elements in the human genome. https://doi.org/10.1038/nature11247>
<PubMed>
46. J Hum Genet 2012; 57(1): 6–13.
< SH, Padh H. Implications of gene copy-number variation in health and diseases. https://doi.org/10.1038/jhg.2011.108>
47. Curr Genet 2019; 65(6): 1287–95.
< S, Gresham D. An evolving view of copy number variants. https://doi.org/10.1007/s00294-019-00980-0>
48. J Clin Endocrinol Metab 2017; 102(8): 3029–39.
< M, Viljakainen H, Loid P, et al. Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways. https://doi.org/10.1210/jc.2017-00565>
49. Diabetes Metab Syndr Obes 2020; 13: 1695–701.
< V, Venkatapoorna CMK, Babu JR, Geetha T. Salivary Amylase Gene Copy Number Is Associated with the Obesity and Inflammatory Markers in Children. https://doi.org/10.2147/DMSO.S251359>
<PubMed>