PPARA Leu162Val polymorphism Sample Clauses

PPARA Leu162Val polymorphism. Several polymorphisms have been found in the human PPARA gene, one of which being a C→G transversion in axon 5 at position 484 which leads to a substitution of valine for leucine at codon 162 (Leu162Val) (Xxx et al, 2002). The frequency of the minor allele (Val162) is 0.042 in Europeans (xxxx://xxx.xxxx.xxx.xxx.xxx/snp; build 132 accessed 15/12/10). Many studies have examined the role of PPARA Leu162Val polymorphism in the variability of lipids and apolipoprotein concentrations. The minor allele Val162 has been associated with higher concentrations of Apo B and LDL-C (Xxxx et al, 2000; Xxx et al, 2002;Xxxxxx et al, 2007); HDL-C; Apo A1 (Xxxxxxx et al, 2000); apoC-III (Xxx et al, 2002); higher serum TAG; lower HDL-C concentration, and higher subcutaneous fat volume in White males (Uthurralt et al, 2007), with lower BMI in subjects with T2D and healthy controls (Xxxxx et al, 2001). The Val162 has also been associated with higher TC: HDL-C, and TAG: HDL ratios (Manresa et al, 2006); higher TAG and apoC-III in African Americans, but not Caucasians (Xxxx et al, 2008) and with lower TAG concentrations (Nielsen et al, 2003). The Val162Val homozygotes have significantly higher TC and TAG concentrations compared to Leu162 carriers (Sparsø et al, 2007). However, the Leu162Val SNP has not been associated with any of the lipid profiles (Pishva et al, 2009), BMI, body fat composition, insulin sensitivity, or insulin secretion in three European cohorts: TULIP, TUEF and the LURIC (Xxxxxxxxxxx et al, 2009). Furthermore, it is not linked with the lipid profiles of patients with T2D in the Go-DARTS study (Xxxxx et al, 2005). In a study population in which subgroups with or without T2D were compared, carriage of the Val162-allele was associated with reduced concentrations of HDL-C and a reduced risk of CVD in the DM group. Only in Val162 carriers is fibrate treatment in the DM group associated with a reduced risk of CVD and a significantly increased CVD risk in the absence of DM (Xxx et al, 2006). This may suggest that the beneficial effect of the Val162-allele in subjects receiving fibrate treatment depends on ligand concentration. The following section reviews the influence of dietary ligands on PPARA Leu162Val.
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