A quantitative trait locus influencing estrogen levels maps to a region homologous to human chromosome 20

Physiol Genomics. 2001 Mar 8;5(2):75-80. doi: 10.1152/physiolgenomics.2001.5.2.75.

Abstract

Estrogen, a steroid hormone, regulates reproduction and has been implicated in several diseases. We performed a genome-wide scan using multipoint linkage analysis implemented in a general pedigree-based variance component approach to identify genes with measurable effects on variation in estrogen levels in baboons. A microsatellite polymorphism, D20S171, located on human chromosome 20q13.11, showed strong evidence of linkage with a LOD score of 3.06 (P = 0.00009). This region contains several potential candidate genes including melanocortin 3 receptor (MC3R), cytochrome P-450 subfamily XXIV (CYP24), and breast carcinoma amplified sequence (BCAS1). This is the first evidence of a quantitative trait locus with a significant effect on estrogen.

Publication types

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

MeSH terms

  • Aging
  • Animals
  • Body Weight
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 20 / genetics*
  • Estradiol / blood
  • Estradiol / metabolism
  • Estrogens / blood
  • Estrogens / metabolism*
  • Female
  • Genotype
  • Humans
  • Likelihood Functions
  • Lod Score
  • Male
  • Menstrual Cycle / blood
  • Menstrual Cycle / metabolism
  • Microsatellite Repeats / genetics
  • Models, Genetic
  • Papio / blood
  • Papio / genetics*
  • Papio / metabolism*
  • Pedigree
  • Polymorphism, Genetic / genetics
  • Quantitative Trait, Heritable*
  • Radioimmunoassay
  • Sequence Homology, Nucleic Acid
  • Sex Characteristics

Substances

  • Estrogens
  • Estradiol