title: Functional polymorphisms of the leptin and leptin receptor genes are associated with longevity and with the risk of myocardial infarction and of type 2 diabetes mellitus.
abstract: BACKGROUND
  Longevity is commonly associated with good health and with delayed onset of age-related diseases with usually benign course. Leptin (LEP) significantly affects metabolism and numerous functions of the organism. To find out if extreme longevity and its phenotype are associated with genetic variants of leptin and leptin receptor (LEPR) genes, we analysed the frequencies of the -2548 G/A and +19 G/A LEP, as well as the K109R, Q223R, and K656N LEPR polymorphisms in centenarians and in control groups.
  
  
  METHODS
  The frequencies of the LEP and LEPR polymorphisms were tested by restriction fragment length polymorphism in 128 centenarians, 414 young controls (Y), 226 myocardial infarction (MI) patients, and 190 type 2 diabetes mellitus (DM2) patients.
  
  
  RESULTS
  The GG genotype of the -2548 G/A LEP polymorphism was significantly more common in centenarians than in the Y, MI and DM2 groups (p = 0.048, p = 0.003, p = 0.049, respectively). In addition, the AA genotype of the K109R LEPR polymorphism was significantly less frequent in centenarians than in the Y, MI, and DM2 groups (p = 0.026, p = 0.013, and p = 0.001, respectively).
  
  
  CONCLUSIONS
  We suggest that the leptin pathway plays a role in the regulation of longevity, possibly by modulating the risk of development of MI and of DM2.
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Roszkowska-Gancarz
authors.forename: Alina
authors.initials: A
authors.lastname: Kurylowicz
authors.forename: Jacek
authors.initials: J
authors.lastname: Polosak
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Mossakowska
authors.forename: Edward
authors.initials: E
authors.lastname: Franek
authors.affiliation: mpuzianowska@wum.edu.pl.
authors.forename: Monika
authors.initials: M
authors.lastname: Puzianowska-Kuźnicka
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003430:Cross-Sectional Studies; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D020738:Leptin / Q000235:genetics*; D008136:Longevity / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009203:Myocardial Infarction / Q000235:genetics*; D011110:Polymorphism, Genetic; D054411:Receptors, Leptin / Q000235:genetics*; D055815:Young Adult
chemical_list: D020738:Leptin; D054411:Receptors, Leptin