Author Description

This dissertation, "Genetics of Obesity in Hong Kong Chinese: a Candidate Gene Approach Focusing on the Melanocortin-4 Receptor and Adiponectin" by Rong, Rong,, was obtained from The University of Hong Kong (Pokfulam, Hong Kong) and is being sold pursuant to Creative Commons: Attribution 3.0 Hong Kong License. The content of this dissertation has not been altered in any way. We have altered the formatting in order to facilitate the ease of printing and reading of the dissertation. All rights not granted by the above license are retained by the author. Abstract: Abstract of thesis entitled Genetics of Obesity in Hong Kong Chinese: A Candidate Gene Approach Focusing on the Melanocortin-4 Receptor and Adiponectin Submitted by RONG RONG for the degree of Doctor of Philosophy at the University of Hong Kong in June 2005 Various genes have been implicated in the pathogenesis of obesity. Melanocortin-4 receptor (MC4R) has been shown to play a key role in energy homeostasis. MC4R deficiency has been shown to account for 1-6% of early-onset human obesity. Adiponectin also plays an important role in energy, glucose and lipid homeostasis. Single nucleotide polymorphisms (SNPs) and haplotypes of adiponectin gene have been reported to be associated with BMI, insulin, glucose, and adiponectin levels in several ethnic populations. However, no systematic study has been conducted for these two candidate genes in Chinese. The aim of the present study was to explore the contribution of the MC4R and adiponectin genes to obesity in Chinese. 2 For the MC4R gene, 227 obese subjects with a mean BMI of 35.29 kg/m and 100 normal controls with a mean BMI of 21.57 kg/m were screened for mutations in the putative promoter region and coding region by PCR-direct sequencing. Apart from two known SNPs, V103I and -176A>C, 3 novel missense mutations: Y35C, C40R, and M218T were also identified. The prevalence of carriers of V103I in normal controls was significantly higher