Lipoprotein lipase gene S447X polymorphism modulates the relation between central obesity and serum lipids, a twin study

Huang, Aiqun; Hu, Yong; Zhan, Si Yan; Xu, Bing; Pang, Zengchang; Cao, Wei; Qin, Yong; Lee, L M

doi:10.1038/sj.ijo.0803332

Cited by 19 publications

(19 citation statements)

References 38 publications

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“…Among the 4 genes that showed significant associations before corrections, more than half of these associations (7/13) had already been reported in other studies. Indeed, the associations observed for the ε 2 allele of the ApoE gene [33,34,35,36,37], the minor alleles of the LPL gene mutations [30, 32], HindIII [38] and S447X (association with triglycerides) [30,39,40,41,42,43] as well as the minor allele of UCP1-L229M [44] were in agreement with results observed in other populations.…”

Section: Discussionsupporting

confidence: 76%

Association Study between Candidate Genes and Obesity-Related Phenotypes Using a Sample of Lumberjacks

Chamberland

Tremblay

Audet³

et al. 2009

Public Health Genomics

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Introduction: Complex traits such as obesity are modulated by genetic and environmental factors and lead to varied clinical presentations.The aim of this study was to investigate associations between candidate genes and obesity-related phenotypes using a sample of 252 lumberjacks issued from a founder population and sharing a common and circumscribed environment. Methods: Thirty-seven variants in 18 genes were genotyped. The restriction fragment length polymorphism method and the template-directed dye-terminator incorporation assay with fluorescence polarization detection were employed for the genotyping assays. Multivariate logistic regression models were built in order to calculate the relative odds of exhibiting obesity-related phenotypes associated with the presence of the studied polymorphism. Among them, 21 single nucleotide polymorphisms were tested for associations with obesity phenotypes. Results: Significant associations were found between carriers of the minor alleles of APOE-ε2, FABP2-A54T, UCP1-L229M, LPL-HindIII, LPL-S447X and LPL-T1973C, patients bearing a combination of LPL-D9N, LPL-N291S and LPL-P207L and obesity-related phenotypes. Conclusion: The present results suggest that a particular population such as lumberjacks, sharing the same environment, could help target genes involved in complex traits.

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Section: Discussionsupporting

confidence: 76%

Association Study between Candidate Genes and Obesity-Related Phenotypes Using a Sample of Lumberjacks

Chamberland

Tremblay

Audet³

et al. 2009

Public Health Genomics

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“…Then X4 Short Tandem Repeat markers were used to determine zygosity in the remaining twins. 16,17 Written informed consent was obtained from all participants before they entered the study, which was approved by the Ethics Committee for Human Subject Studies of the Peking University Health Science Center.…”

Section: Methods Subjectsmentioning

confidence: 99%

Genetic and environmental influences on blood pressure and body mass index in Han Chinese: a twin study

Snieder

et al. 2010

Hypertens Res

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The familial aggregation of blood pressure (BP) may be partly due to the familial aggregation of obesity, caused by genetic and/or environmental factors that influence both. Gene-obesity interactions are expected to result in different heritability estimates for BP at different obesity levels. However, the latter hypothesis has never been tested. The present study included 1243 monozygotic and 833 dizygotic Han Chinese twins (mean±s.d. age: 37.81±9.82; range: 19.1-81.4) from the Chinese National Twin Registry. Body mass index (BMI) was used as the index of general obesity. The outcome measures were systolic BP (SBP) and diastolic BP (DBP). Quantitative genetic modeling was performed using Mx software. The SBP and DBP heritabilities were 46 and 30%, respectively. The positive correlations of BMI with SBP (r¼0.26) and with DBP (r¼0.27) were largely due to genetic factors (approximately 85%). Genetic factors, which also influence BMI, account for 6 and 7% of the total variance for SBP and DBP, respectively. The gene-obesity interaction analysis showed that both common and unique environmental influences on SBP increased with increasing levels of BMI, resulting in a lower heritability at higher BMI levels, whereas for DBP the heritability remained unchanged at higher BMI levels. Our results suggest that higher BMIs may reduce SBP heritability through a larger impact of environmental effects. These conclusions may be valuable for gene-finding studies. Keywords: blood pressure; heritability; interaction; obesity; twin INTRODUCTION Hypertension affects a large proportion of the adult population, 1 and is caused by complex interactions of environmental and genetic factors that vary across populations. Obesity is a well-established risk factor for hypertension. [2][3][4] Twin studies have shown that underlying continuous traits for both hypertension and obesity are significantly heritable. Heritability estimates for both systolic blood pressure (SBP) and diastolic blood pressure (DBP) are between 40 and 60%, 5 and the heritability for body mass index (BMI) is also substantial. 6-8 These estimates raise the possibility that common genetic susceptibility may account for the association. Several previous twin and family studies have shown that the association between blood pressure (BP) and BMI is partly attributed to a common set of genetic factors, 5,9-11 although another study investigating the differences in monozygotic (MZ) twins showed that even in the absence of genetic influences, obesity may still be significantly associated with BP. 12 Moreover, most of these studies

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“…The stop codon results in lower LPL activity (Kozaki et al 1993;Groenemeijer et al 1997), and is associated with lower levels of IL-8 (Ak et al 2007). Individuals not in possession of the stop codon are associated with central obesity (Huang et al 2006).…”

Section: Analysis Of Resultsmentioning

confidence: 98%

Identification of possible genetic polymorphisms involved in cancer cachexia: a systematic review

Tan

Ross

Kaasa

et al. 2011

J Genet

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Cancer cachexia is a polygenic and complex syndrome. Genetic variations in regulation of the inflammatory response, muscle and fat metabolic pathways, and pathways in appetite regulation are likely to contribute to the susceptibility or resistance to developing cancer cachexia. A systematic search of Medline and EmBase databases, covering 1986-2008 was performed for potential candidate genes/genetic polymorphisms relating to cancer cachexia. Related genes were then identified using pathway functional analysis software. All candidate genes were reviewed for functional polymorphisms or clinically significant polymorphisms associated with cachexia using the OMIM and GeneRIF databases. Genes with variants which had functional or clinical associations with cachexia and replicated in at least one study were entered into pathway analysis software to reveal possible network associations between genes. A total of 184 polymorphisms with functional or clinical relevance to cancer cachexia were identified in 92 candidate genes. Of these, 42 polymorphisms (in 33 genes) were replicated in more than one study with 13 polymorphisms found to influence two or more hallmarks of cachexia (i.e. inflammation, loss of fat mass and/or lean mass and reduced survival). Thirty-three genes were found to be significantly interconnected in two major networks with four genes (ADIPOQ, IL6, NFKB1 and TLR4) interlinking both networks. Selection of candidate genes and polymorphisms is a key element of multigene study design. The present study provides an initial framework to select genes/polymorphisms for further study in cancer cachexia, and to develop their potential as susceptibility biomarkers of developing cachexia.

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Lipoprotein lipase gene S447X polymorphism modulates the relation between central obesity and serum lipids, a twin study

Cited by 19 publications

References 38 publications

Association Study between Candidate Genes and Obesity-Related Phenotypes Using a Sample of Lumberjacks

Association Study between Candidate Genes and Obesity-Related Phenotypes Using a Sample of Lumberjacks

Genetic and environmental influences on blood pressure and body mass index in Han Chinese: a twin study

Identification of possible genetic polymorphisms involved in cancer cachexia: a systematic review

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