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

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.