A mitochondrial DNA D-loop polymorphism and obesity in three cohorts of women

Int J Obes Relat Metab Disord. 1999 Jun;23(6):666-8. doi: 10.1038/sj.ijo.0800900.


Objective: To examine the hypothesis of an association between a mtDNA D-loop Kpn I restriction site polymorphism (RSP) at base pair (bp) 16,133 (morph-1) and obesity in women.

Design: Comparisons of carriers and noncarriers of the mutation for BMI (Body Mass Index) levels and of the frequency of the mutation in obese and normal weight women.

Subjects: 567 unrelated adult Caucasian non-diabetic women from the HERITAGE Family Study (n = 63; BMI: 15-47 kg/m2), Quebec Family Study (QFS; 77 controls, BMI: 19-26 kg/m2 and 38 obese, BMI: 27-56 kg/m2) and Swedish Obese Subjects (SOS) Study (81 controls, BMI: 18-26 kg/m2 and 308 obese, BMI: 33-58 kg/m2).

Measurements: BMI was calculated from weight and height (kg/m2). mtDNA was amplified between base pair 15,928 and 16,500 by polymerase chain reaction (PCR) and digested with the restriction endonuclease Kpn I.

Results: No significant differences in the age-adjusted BMI for the mtDNA D-loop Kpn I RSP at base pair (bp) 16,133 (morph-1) between carriers and non-carriers in the HERITAGE cohort. No significant association was found between BMI and the Kpn I RSP carrier status in the SOS and QFS cohorts. The observed frequencies for the Kpn I RSP were not significantly (P > 0.05) different between the SOS controls and SOS obese irrespective of the degree of severity of obesity (BMI > 40, > 45 or > 50 kg/m2).

Conclusion: We conclude that the mtDNA D-loop Kpn I RSP at bp 16,133 (morph-1) is not a determinant of human obesity.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Aged
  • Body Mass Index
  • Cohort Studies
  • DNA Primers
  • DNA, Mitochondrial / genetics*
  • Female
  • Humans
  • Middle Aged
  • Obesity / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Puerto Rico
  • Quebec
  • Sweden


  • DNA Primers
  • DNA, Mitochondrial