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Diabetologia

, Volume 38, Issue 6, pp 715–719 | Cite as

Parental imprinting effect at the INS-IGF2 diabetes susceptibility locus

  • C. Polychronakos
  • A. Kukuvitis
  • N. Giannoukakis
  • E. Colle
Originals

Summary

Although association of insulin-dependent diabetes mellitus with a haplotype at a locus encompassing the genes for insulin and the insulin-like growth factor II has been well established, two major studies disagree as to whether linkage to this locus is confined to paternally inherited alleles, or is present in alleles transmitted from either parental sex. Towards resolving this discrepancy, we examined parent-of-origin specific association rather than linkage, using the haplotype relative risk method in a mixed Caucasian population. We find that the haplotype relative risk (HRR) conferred by paternal chromosomes was much higher (5.1, p<0.01) than the corresponding maternal value (2.3, p=0.07), which narrowly failed to reach statistical significance. Thus, although we cannot exclude an effect of the maternal allele, such an effect appears to be considerably weaker. We review evidence that parental imprinting is genotype-dependent, which may explain the different degrees to which the paternal effect is seen in different populations.

Key words

Genetic association imprinting insulin insulin-like growth factor II 

Abbreviations

IDDM

Insulin-dependent diabetes mellitus

RFLP

restriction fragment length polymorphism

INS

insulin gene

IGF2

gene for the insulin-like growth factor II

HRR

haplotype relative risk

OR

odds ratio

RR

relative risk

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Copyright information

© Springer-Verlag 1995

Authors and Affiliations

  • C. Polychronakos
    • 1
  • A. Kukuvitis
    • 1
  • N. Giannoukakis
    • 1
  • E. Colle
    • 1
  1. 1.Montreal Children's Hospital Research Institute, Department of Pediatrics, Division of EndocrinologyMcGill UniversityMontrealCanada

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