Ordered stratification to reduce heterogeneity in linkage to diabetes-related quantitative traits

Obesity (Silver Spring). 2008 Oct;16(10):2314-22. doi: 10.1038/oby.2008.354. Epub 2008 Jul 24.

Abstract

Phenotypic heterogeneity complicates detection of genomic loci predisposing to type 2 diabetes, potentially obscuring or unmasking specific loci. We conducted ordered-subsets linkage analyses (OSAs) for diabetes-related quantitative traits (fasting insulin and glucose, hemoglobin A1c (HbA1c), and 28-year-time-averaged fasting plasma glucose (FPG)) from 330 families of the Framingham Offspring Study. We calculated mean BMI, waist circumference (WC), and a diabetes "age-of-onset score" for each family. We constructed subsets by adding one family at a time in increasing (lean family to obese) or decreasing (obese to lean) adiposity order, or increasing or decreasing propensity to develop diabetes at a younger age, with the OSA LOD reported as the maximum LOD observed in any subset. Permutation P values tested the hypothesis that phenotypic ordering showed stronger linkage than random ordering. On chromosome 1, ordering by increasing family mean WC increased linkage to time-averaged FPG at 256 cM from LOD = 2.4 to 3.5 (permuted P = 0.02) and to HbA1c at 180 cM from LOD = 2.0 to 3.3 (P = 0.01). On chromosome 19, ordering by decreasing WC increased linkage to fasting insulin at 68 cM from LOD = 2.7 to 4.6 (P = 0.002), and ordering by decreasing propensity to develop diabetes at a young age increased linkage to fasting insulin at 73 cM from LOD = 2.7 to 4.0 (P = 0.046). We conclude that chromosomes 1 and 19 could harbor adiposity-interacting diabetes susceptibility genes. Such interactions might also influence trait-locus associations and may be useful to consider in diabetes genome-wide association studies.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Blood Glucose / genetics
  • Body Mass Index
  • Body Size / genetics
  • Chromosomes, Human, Pair 1*
  • Chromosomes, Human, Pair 19*
  • Diabetes Mellitus / genetics*
  • Diabetes Mellitus / metabolism
  • Diabetes Mellitus / physiopathology
  • Genetic Heterogeneity*
  • Genetic Linkage*
  • Genotype
  • Glycated Hemoglobin / metabolism
  • Humans
  • Insulin / blood
  • Insulin Resistance / genetics
  • Lod Score
  • Obesity / genetics
  • Pedigree
  • Phenotype
  • Quantitative Trait Loci*
  • Quantitative Trait, Heritable

Substances

  • Blood Glucose
  • Glycated Hemoglobin A
  • Insulin
  • hemoglobin A1c protein, human