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Updated: Jul 18, 2026

Sample Preparation to Bioinformatics Analysis of DNA Methylation: Association Strategy for Obesity and Related Trait Studies
Published on: May 6, 2022
Genetics of obesity in humans
Sadaf Farooqi1, Stephen O'Rahilly
1University Departments of Medicine and Clinical Biochemistry, Box 232, Addenbrooke's Hospital, Cambridge CB2 2QQ, United Kingdom.
Abstract:
Considerable attention has focused on deciphering the hypothalamic pathways that mediate the behavioral and metabolic effects of leptin. We and others have identified several single gene defects that disrupt the molecules in the leptin-melanocortin pathway causing severe obesity in humans. In this review, we consider these human monogenic obesity syndromes and discuss how far the characterization of these patients has informed our understanding of the physiological role of leptin and the melanocortins in the regulation of human body weight and neuroendocrine function.
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