FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2255284943> ?p ?o ?g. }

• W2255284943 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. 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 than that in obese subjects, in keeping with findings in other ethnic groups. C40R and M218T were only detected in obese but not in normal subjects. All three novel MC4R missense mutations were functionally normal in terms of cAMP accumulation and cell surface expression, suggesting that they probably did not contribute significantly to obesity in the mutation carriers. For the adiponectin gene, firstly, a 4.6 kb fragment of the adiponectin gene was sequenced for SNPs in 30 obese and 30 normal subjects. 15 SNPs including -12140G>A, -11426A>G, -11377C>G, -11156insCA, -11043C>T, -10677C>T, -4041A>C, -3971A>G, +45T>G, +276G>T, +349A>G, +639T>C, +712A>G, +967G>A, +2019del/insA with 4 novel ones: SNPs -12140G>A, -10677C>T, +639T>C and +967G>A were identified. Secondly, a case-control study including 226 obese and 207 normal subjects was conducted to examine the contribution of SNPs -11377, +45, +276, +349, +639, +712, and +967 to obesity. However, the allelic frequency of the aforementioned SNPs was similar in 226 obese and 207 normal subjects. In subjects with normal weight, homozygous +45 GG and 45-276 GG/GG had high insulin levels and insulin resistance index compared to those with other genotypes or haplotypes, suggesting the contribution of SNPs and haplotype of adiponectin gene to obesity-related traits. However, we could not detect a correlation of adiponectin levels with SNPs or haplotypes, implying the limited contribution of adiponectin gene SNPs and haplotypes to adiponectin concentrations in Chinese. In summary, 2 SNPs and 3 novel missense mutations of MC4R were identified. The frequency of MC4R mutations (C40R and M218T) was 0.8% in our population. The functional properties of the 3 novel missense mutations were characterized. Fifteen SNPs of the adiponectin gene, 4 being novel, were identified. The association of homozygous +45 GG and homozygous 45-276 GG/GG haplotype with two obesity-related traits, hyperinsulinemia and insulin resistance index, is in keeping with a role of adiponectin in the regulation of energy homeostasis. Genetics of Obesity in Hong Kong Chinese: A Candidate Gene Approach Focusing on the Melanocortin-4 Receptor and Adiponectin" @default.
• W2255284943 created "2016-06-24" @default.
• W2255284943 creator A5042708757 @default.
• W2255284943 date "2012-04-25" @default.
• W2255284943 modified "2023-09-28" @default.
• W2255284943 title "Genetics of obesity in Hong Kong Chinese : a candidate gene approach focusing on the melanocortin-4 receptor and adiponectin" @default.
• W2255284943 cites W105189917 @default.
• W2255284943 cites W1479896379 @default.
• W2255284943 cites W1485161311 @default.
• W2255284943 cites W1488596761 @default.
• W2255284943 cites W1491183049 @default.
• W2255284943 cites W1492605893 @default.
• W2255284943 cites W1498791370 @default.
• W2255284943 cites W1503357410 @default.
• W2255284943 cites W1512875938 @default.
• W2255284943 cites W1513833217 @default.
• W2255284943 cites W1518382324 @default.
• W2255284943 cites W1522183720 @default.
• W2255284943 cites W1522239197 @default.
• W2255284943 cites W1524321743 @default.
• W2255284943 cites W1539401343 @default.
• W2255284943 cites W1546792714 @default.
• W2255284943 cites W1549372716 @default.
• W2255284943 cites W1561443084 @default.
• W2255284943 cites W1584840122 @default.
• W2255284943 cites W1587875569 @default.
• W2255284943 cites W1589236950 @default.
• W2255284943 cites W1592191138 @default.
• W2255284943 cites W1593075597 @default.
• W2255284943 cites W1595325053 @default.
• W2255284943 cites W1604929717 @default.
• W2255284943 cites W1606342288 @default.
• W2255284943 cites W1631449371 @default.
• W2255284943 cites W1639930240 @default.
• W2255284943 cites W1675830194 @default.
• W2255284943 cites W1861209549 @default.
• W2255284943 cites W1872573833 @default.
• W2255284943 cites W1927710737 @default.
• W2255284943 cites W1964227153 @default.
• W2255284943 cites W1964488668 @default.
• W2255284943 cites W1964588842 @default.
• W2255284943 cites W1964599605 @default.
• W2255284943 cites W1965006614 @default.
• W2255284943 cites W1965574341 @default.
• W2255284943 cites W1966441882 @default.
• W2255284943 cites W1966995123 @default.
• W2255284943 cites W1969673534 @default.
• W2255284943 cites W1971882473 @default.
• W2255284943 cites W1974033843 @default.
• W2255284943 cites W1974075370 @default.
• W2255284943 cites W1974256272 @default.
• W2255284943 cites W1974917347 @default.
• W2255284943 cites W1975390269 @default.
• W2255284943 cites W1976741643 @default.
• W2255284943 cites W1980857506 @default.
• W2255284943 cites W1981073334 @default.
• W2255284943 cites W1981261500 @default.
• W2255284943 cites W1981498986 @default.
• W2255284943 cites W1983640439 @default.
• W2255284943 cites W1983833224 @default.
• W2255284943 cites W1984191109 @default.
• W2255284943 cites W1984769394 @default.
• W2255284943 cites W1987623627 @default.
• W2255284943 cites W1989854187 @default.
• W2255284943 cites W1991387246 @default.
• W2255284943 cites W1991894913 @default.
• W2255284943 cites W1992303275 @default.
• W2255284943 cites W1993669390 @default.
• W2255284943 cites W1994091958 @default.
• W2255284943 cites W1994631052 @default.
• W2255284943 cites W1996713062 @default.
• W2255284943 cites W1997978122 @default.
• W2255284943 cites W1999646643 @default.
• W2255284943 cites W2000993508 @default.
• W2255284943 cites W2001727439 @default.
• W2255284943 cites W2001913879 @default.
• W2255284943 cites W2006428876 @default.
• W2255284943 cites W2009172922 @default.
• W2255284943 cites W2010142606 @default.
• W2255284943 cites W2010374889 @default.
• W2255284943 cites W2010710935 @default.
• W2255284943 cites W2012496594 @default.
• W2255284943 cites W2013271332 @default.
• W2255284943 cites W2015591615 @default.
• W2255284943 cites W2018330219 @default.
• W2255284943 cites W2022439696 @default.
• W2255284943 cites W2025494172 @default.
• W2255284943 cites W2025846514 @default.
• W2255284943 cites W2028285640 @default.
• W2255284943 cites W2028605148 @default.
• W2255284943 cites W2029046331 @default.
• W2255284943 cites W2029080655 @default.
• W2255284943 cites W2029181556 @default.
• W2255284943 cites W2034021000 @default.
• W2255284943 cites W2034092543 @default.
• W2255284943 cites W2034201007 @default.
• W2255284943 cites W2034810986 @default.
• W2255284943 cites W2036555757 @default.
• W2255284943 cites W2036937441 @default.
• W2255284943 cites W2039784604 @default.

• next