Association of an Estrogen Receptor Variant with Increased Height in Women

S. Lehrer, Jill Rabin, Joanne Stone, Gertrud Berkowitz
1994 Hormone and Metabolic Research  
There is an association between a B region allele (here called the B' allele) of the estrogen receptor (ER) and a history of spontaneous abortion in women with ER positive breast cancer, but no such association for women with ER negative tumors or women without breast cancer . In this study we compared the heights of women carrying the B and B' alleles . The B' allele was identified by polymerase chain reaction to amplify genomic DNA around the polymorphic region of the ER gene, followed by
more » ... ne, followed by allele specific oligonucleotide hybridization . This analysis used DNA obtained from blood lymphocytes . Women carrying the B' allele were significantly taller than those carrying the wild type allele (B allele) . Multiple linear regression also demonstrated that this association remained (p = 0 .017), controlling for the effects of age and race . Since the B' ER allele results from a silent mutation, a second mutation, segregating with it, no doubt plays a role in producing the high incidence of spontaneous abortion we reported previously and the height difference we report here . This second mutation might lie within the estrogen receptor itself or within one of the genes nearby .
doi:10.1055/s-2007-1001739 pmid:7851874 fatcat:gjsnmx54izgojnk4uh4q3amc4i