Title : Association of LIPA gene polymorphisms with obesity-related metabolic complications among severely obese patients - Guenard_2012_Obesity.(Silver.Spring)_20_2075 |
Author(s) : Guenard F , Houde A , Bouchard L , Tchernof A , Deshaies Y , Biron S , Lescelleur O , Biertho L , Marceau S , Perusse L , Vohl MC |
Ref : Obesity (Silver Spring) , 20 :2075 , 2012 |
Abstract :
The lipase A lysosomal acid cholesterol esterase enzyme LIPA is involved in the hydrolysis of triglycerides TGs and cholesteryl esters CEs delivered to lysosomes. LIPA deficiency in human causes two distinct phenotypes characterized by intracellular storage of CE and derangements in the control of cholesterol production namely the Wolman disease WD and the CE storage disease CESD. To test the potential association of LIPA gene polymorphisms with obesity-related metabolic complications promoter exons and intronic flanking regions of the LIPA gene were first sequenced in 25 individuals. From the 14 common polymorphisms identified 12 tagging single-nucleotide polymorphisms tSNPs were genotyped in a cohort of 1,751 obese individuals. After adjustments for the effect of age sex diabetes and medication the C allele of SNP rs1051338 was associated with lower blood pressure BP systolic SBP P 0.004 diastolic DBP P 0.006. Three of the tested SNPs were associated with modifications of the plasma lipid profile. The G/G genotype of rs2071509 was associated with higher high-density lipoprotein cholesterol HDL-C levels P 0.009 and minor allele of rs1131706 was also associated with higher HDL-C P 0.004 and an association between rs3802656 and total cholesterol total-C)/HDL-C ratio was identified P 0.04 . These results thus suggest that LIPA polymorphisms contribute to the interindividual variability observed in obesity-related metabolic complications. |
PubMedSearch : Guenard_2012_Obesity.(Silver.Spring)_20_2075 |
PubMedID: 22395809 |
Gene_locus related to this paper: human-LIPA |
Mutation | T16P_human-LIPA |
Gene_locus | human-LIPA |
Disease | Wolman disease WD, Cholesterol Ester Storage Disease, CESD |
Guenard F, Houde A, Bouchard L, Tchernof A, Deshaies Y, Biron S, Lescelleur O, Biertho L, Marceau S, Perusse L, Vohl MC (2012)
Association of LIPA gene polymorphisms with obesity-related metabolic complications among severely obese patients
Obesity (Silver Spring)
20 :2075
Guenard F, Houde A, Bouchard L, Tchernof A, Deshaies Y, Biron S, Lescelleur O, Biertho L, Marceau S, Perusse L, Vohl MC (2012)
Obesity (Silver Spring)
20 :2075