Observational studyBiological research2016
The p. N103K mutation of leptin (LEP) gene and severe early onset obesity in Pakistan.
Observational study in Biological research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
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Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 49 citations in OpenAlex.
- Classification of Congenital Leptin Deficiency.The Journal of clinical endocrinology and metabolism · 2024Pooled it
- Genetic polymorphisms associated with obesity in the Arab world: a systematic review.International journal of obesity (2005) · 2021Pooled it
- The interaction of breastfeeding and genetic factors on childhood obesity.European journal of obstetrics & gynecology and reproductive biology: X · 2024Review
- Congenital leptin and leptin receptor deficiencies in nine new families: identification of six novel variants and review of literature.Molecular genetics and genomics : MGG · 2023Review
- Prevalence estimates of putatively pathogenic leptin variants in the gnomAD database.PloS one · 2022Article
- First Account of Psychological Changes Perceived by a Female with Congenital Leptin Deficiency upon Treatment with Metreleptin.Obesity facts · 2022Article
- A fresh look to the phenotype in mono-allelic likely pathogenic variants of the leptin and the leptin receptor gene.Molecular and cellular pediatrics · 2021Review
- Study of LEP, MRAP2 and POMC genes as potential causes of severe obesity in Brazilian patients.Eating and weight disorders : EWD · 2021Article
- Metabolic Diseases and Down Syndrome: How Are They Linked Together?Biomedicines · 2021Review
- When Leptin Is Not There: A Review of What Nonsyndromic Monogenic Obesity Cases Tell Us and the Benefits of Exogenous Leptin.Frontiers in endocrinology · 2021Review
- Detection of polymorphism within leptin gene in Egyptian river buffalo and predict its effects on different molecular levels.Journal, genetic engineering & biotechnology · 2020Article
- Precision nutrition: hype or hope for public health interventions to reduce obesity?International journal of epidemiology · 2019Article
- Prediction and Structural Comparison of Deleterious Coding Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) in Human LEP Gene Associated with Obesity.BioMed research international · 2019Article
- Early childhood BMI trajectories in monogenic obesity due to leptin, leptin receptor, and melanocortin 4 receptor deficiency.International journal of obesity (2005) · 2018Article
- Uncovering the molecular mechanisms behind disease-associated leptin variants.The Journal of biological chemistry · 2018Article
- Severe Early Onset Obesity due to a Novel Missense Mutation in Exon 3 of the Leptin Gene in an Infant from Northwest IndiaJournal of clinical research in pediatric endocrinology · 2018Article
- Estimated prevalence of potentially damaging variants in the leptin gene.Molecular and cellular pediatrics · 2017Article
- Leptin promoter variant G2548A is associated with serum leptin and HDL-C levels in a case control observational study in association with obesity in a Pakistani cohort.Journal of biosciences · 2016Observational
- Balance and musculoskeletal flexibility in children with obesity: a cross-sectional study.Annals of Saudi medicineArticle
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundObesity is a complex disorder and has been increasing globally at alarming rates including Pakistan. However, there is scarce research on understanding obesity genetics in Pakistan. Leptin is a hormone secreted by adipocytes in response to satiety and correlates with body weight. Any mutations in the LEP gene have an adverse effect on energy regulation pathway and lead to severe, early onset obesity. To date, only eight mutations have been described in the LEP gene of which p. N103K is one.
methodsWe aimed to analyze the prevalence of this mutation in Pakistani subjects. A total of 475 subjects were genotyped by PCR-RFLP analysis and their serum profiling was done.
resultsResults showed that this mutation was present only in one male child with early onset obesity (10 year). He had very low serum leptin levels suggestive of functional impact of the mutation. The prevalence of such mutations is, however, low due to the drastic effects on the energy regulation.
conclusionIn conclusion, LEP gene mutations contribute significantly to the monogenic forms of obesity and are important due to the availability of treatment options. Such mutations may exert their effect by directly affecting energy regulation pathway and are more prominent in the early stages of life only.
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