The peroxisome proliferator-activated receptor alpha L162V mutation is associated with reduced adiposity.
OBJECTIVE
To determine the contribution of the peroxisome proliferator-activated receptor alpha (PPARalpha) L162V mutation to the variation of several indexes of body fatness obtained from healthy adults who participated in the Quebec Family Study.


METHODS
The PPARalpha L162V mutation was determined by a mismatch polymerase chain reaction method. Adiposity phenotypes were obtained by standardized anthropometric measurements, underwater weighing technique, and computed tomography.


RESULTS
For all adiposity phenotypes, subjects carrying the V162 allele had lower values compared with L162 homozygotes (HMZs) [BMI (kg/m(2)): 27.8 +/- 7.6 vs. 26.0 +/- 5.6, p < 0.05; percentage body fat: 28.5 +/- 10.7 vs. 25.7 +/- 10.1, p < 0.05; waist circumference (cm): 89.0 +/- 18.1 vs. 85.7 +/- 15.8, p = 0.07; total computed tomography abdominal fat areas (cm(2)): 406 +/- 221 vs. 359 +/- 192, p = 0.15; means +/- SD for L162 HMZs vs. V162 carriers, respectively]. Differences in cross-sectional abdominal adipose tissue areas and waist circumference were abolished after adjustment for total body fat mass. Similar trends were observed when results were analyzed by gender, although associations seemed stronger in women. The odds ratio of having a BMI above 30 kg/m(2) reached 1.77 (1.02; 3.07, 95% confidence intervals) for L162 HMZs. This risk could be considered marginal on an individual basis, but because 85% of the subjects are affected by this small risk, the impact on the population is important.


CONCLUSIONS
The PPARalpha V162 allele is associated with reduced adiposity and has a substantial population-attributable risk.
Bossé
Yohan
Y
Lipid Research Center, Laval University Medical Research Center, Sainte-Foy, Québec, Canada.
Després
Jean-Pierre
JP
Bouchard
Claude
C
Pérusse
Louis
L
Vohl
Marie-Claude
MC
D000005:Abdomen; D000273:Adipose Tissue; D000328:Adult; D000483:Alleles; D001823:Body Composition / Q000235:genetics*; D001824:Body Constitution; D015992:Body Mass Index; D001835:Body Weight; D004247:DNA / Q000032:analysis; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics*; D014057:Tomography, X-Ray Computed; D014157:Transcription Factors / Q000235:genetics*
D018160:Receptors, Cytoplasmic and Nuclear; D014157:Transcription Factors; D004247:DNA