title: Association between CST3 rs2424577 polymorphism and corpulence related phenotypes during lifetime in populations of European ancestry.
abstract: OBJECTIVE
  Cystatin C, a protein coded by CST3 gene, is implicated in adipose tissue biology. Our hypothesis is that common variants in CST3 gene could play a role in the development of corpulence during lifetime.
  
  
  METHODS
  Two tag SNPs were selected to capture all SNPs in the CST3 region. We first investigated the association of the two tag SNPs individually and combined into haplotypes with corpulence related phenotypes in 4,288 French subjects (BMI = 24.31 ( 3.74 kg/m²). Significant findings were replicated in five independent populations--790 Danish lean men (BMI = 24.63 ( 2.30 kg/m²), 672 Danish obese men (BMI = 33.23 ( 2.34 kg/m²), 763 Swedish women (BMI = 21.73 ( 2.87 kg/m²), 1,848 Danish lean women (BMI = 22.66 ( 2.85 kg/m²) and 2,061 Danish obese women (BMI = 37.01 ( 3.59 kg/m²).
  
  
  RESULTS
  Rs2424577 was associated with BMI in three independent populations--G/G carriers were less corpulent than A/A carriers in the French individuals (p = 0.045) and in the Danish lean men (p = 0.021), and they were more corpulent in the group of Swedish women (p = 0.004). This phenomenon has been described as a flip-flop phenomenon, probably caused by a multilocus effect.
  
  
  CONCLUSIONS
  CST3 rs2424577 is associated with BMI in a complex fashion. This association is probably caused by the interaction between several functional variants.
authors.affiliation: INSERM U872 Equipe 7, Centre de Recherche des Cordeliers 15 Rue de l’Ecole de Medecine, 75006 Paris, France. henri.hooton@upmc.fr
authors.forename: Henri
authors.initials: H
authors.lastname: Hooton
authors.forename: Beatrice
authors.initials: B
authors.lastname: Dubern
authors.forename: Corneliu
authors.initials: C
authors.lastname: Henegar
authors.forename: Lavinia
authors.initials: L
authors.lastname: Paternoster
authors.forename: Ellen A
authors.initials: EA
authors.lastname: Nohr
authors.forename: Rohia
authors.initials: R
authors.lastname: Alili
authors.forename: Francis
authors.initials: F
authors.lastname: Rousseau
authors.forename: Veronique
authors.initials: V
authors.lastname: Pelloux
authors.forename: Pilar
authors.initials: P
authors.lastname: Galan
authors.forename: Serge
authors.initials: S
authors.lastname: Hercberg
authors.forename: Peter
authors.initials: P
authors.lastname: Arner
authors.forename: Thorkild I A
authors.initials: TI
authors.lastname: Sørensen
authors.forename: Karine
authors.initials: K
authors.lastname: Clément
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D050218:Body Fat Distribution; D015992:Body Mass Index; D002648:Child; D055316:Cystatin C / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D009765:Obesity / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D044465:White People / Q000235:genetics*; D055815:Young Adult
chemical_list: C525030:CST3 protein, human; D055316:Cystatin C