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Osteoporosis is a multifactorial disorder where genetic and environmental factors contribute to changes in bone mineral density. Several genetic polymorphisms are associated with low bone mineral density and osteoporosis risk, including estrogen receptor-α rs2234693 and rs9340799 single nucleotide polymorphisms.
To determine the allele frequencies of these polymorphisms among postmenopausal Jordanian women and to assess their association with low bone mineral density and osteoporosis among studied subjects.
This cross-sectional study enrolled 450 postmenopausal Jordanian women having dual-energy X-ray absorptiometry scans at the National Center for Diabetes, Endocrinology, and Genetics. The study protocol was approved by this center “Institutional Review Board.” The estrogen receptor-α gene sequence containing rs2234693 and rs9340799 polymorphisms was identified by polymerase chain reaction, followed by restriction fragment length polymorphism.
The wild-type allele frequencies of rs2234693 (T) and rs9340799 (A) were 54% and 59%, respectively. The rs9340799 GG genotype was significantly associated with lower femoral neck T-scores in women who were postmenopausal for more than 10 years (p = 0.023) and was significantly associated with lower lumbar spine (p = 0.033) and femoral neck (p = 0.002) T-scores in women older than 60 years of age. However, there was no association between rs2234693, rs9340799, or their haplotypes with osteoporosis or bone mineral density T-score values. The two polymorphisms were in Hardy-Weinberg equilibrium and exhibited strong but incomplete linkage disequilibrium.
The data suggest that rs9340799 polymorphism may render some women more susceptible to osteoporosis than others.