Differential genetic effects of ESR1 gene polymorphisms on osteoporosis outcomes

JPA Ioannidis, SH Ralston, ST Bennett, ML Brandi… - Jama, 2004 - jamanetwork.com
ContextBoth bone mineral density (BMD) and fracture risk have a strong genetic component.
Estrogen receptor α (ESR1) is a candidate gene for osteoporosis, but previous studies of
ESR1 polymorphisms in this field were hampered by small sample size, lack of
standardization, and inconclusive results. ObjectiveTo generate large-scale evidence on
whether 3 common ESR1 polymorphisms (intron 1 polymorphisms XbaI [dbSNP: rs9340799]
and PvuII [dbSNP: rs2234693] and promoter TA repeats microsatellite) and haplotypes …