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Estrogen receptor gene polymorphism in postmenopausal primary hyperparathyroidism

T Carling1, J Rastad, A Kindmark

  • 1Department of Surgery, Uppsala University Hospital, Sweden.

Surgery
|January 14, 1998
PubMed
Summary

Estrogen receptor gene variations in postmenopausal women with primary hyperparathyroidism did not influence parathyroid tumor development but affected calcium levels and parathyroid hormone. These findings suggest a role in disease severity.

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Area of Science:

  • Endocrinology
  • Genetics
  • Calcium Homeostasis

Background:

  • Estrogen and its receptor are crucial for calcium homeostasis.
  • Primary hyperparathyroidism involves disruptions in calcium regulation.
  • Estrogen receptor gene polymorphisms may influence primary hyperparathyroidism.

Purpose of the Study:

  • To investigate the association between estrogen receptor gene polymorphisms and primary hyperparathyroidism.
  • To determine if these polymorphisms affect biochemical derangements in the condition.

Main Methods:

  • DNA was isolated from 101 postmenopausal women with primary hyperparathyroidism and 101 controls.
  • Estrogen receptor gene polymorphisms (P/p, X/x) were analyzed using polymerase chain reaction and restriction digestion.

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Main Results:

  • Allelic frequencies were similar between patients and controls.
  • Homozygosity for P and X alleles correlated with lower serum calcium levels in patients.
  • The PP genotype was associated with reduced lumbar spine bone mineral density.

Conclusions:

  • Estrogen receptor gene polymorphisms are unlikely to cause parathyroid tumors.
  • These polymorphisms may modulate the biochemical manifestations of primary hyperparathyroidism.
  • Potential influence on parathyroid hormone action and calcium secretion regulation is suggested.