A quantitative trait locus influencing estrogen levels maps to a region homologous to human chromosome 20.
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.
Martin
L J
LJ
Departments of Genetics, Physiology and Medicine, Southwest Foundation for Biomedical Research San Antonio, Texas 78245-0549, USA. lmartin@darwin.sfbr.org
Blangero
J
J
Rogers
J
J
Mahaney
M C
MC
Hixson
J E
JE
Carey
K D
KD
Morin
P A
PA
Comuzzie
A G
AG
D000375:Aging; D000818:Animals; D001835:Body Weight; D002874:Chromosome Mapping; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D004958:Estradiol / Q000097:blood / Q000378:metabolism; D004967:Estrogens / Q000097:blood / Q000378:metabolism*; D005260:Female; D005838:Genotype; D006801:Humans; D016013:Likelihood Functions; D008126:Lod Score; D008297:Male; D008597:Menstrual Cycle / Q000097:blood / Q000378:metabolism; D018895:Microsatellite Repeats / Q000235:genetics; D008957:Models, Genetic; D010215:Papio / Q000097:blood / Q000235:genetics* / Q000378:metabolism*; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics; D019655:Quantitative Trait, Heritable; D011863:Radioimmunoassay; D012689:Sequence Homology, Nucleic Acid; D012727:Sex Characteristics
D004967:Estrogens; D004958:Estradiol