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Estrogen hormones modulate immune cell functions and influence immune response.1 The two-fold risk of MS in women as compared with men may be caused by the effects of estrogens, mostly exhibited through nuclear receptors. Expression of estrogen receptor 1 (ESR1) has been identified in cells of the immune system1 and, thus, genetic variability of ESR1 may play a role in the development of MS. In this explorative study, we investigated whether variants of the ESR1 PvuII polymorphism are associated with MS, especially in women, and whether the human leukocyte antigen (HLA)-DR2 allele, which has consistently been shown to be linked with the disease, influences this association.
Methods.
Ninety-seven patients with clinically definitive MS according to Poser’s criteria (mean age 45.9 ± 10.0 years, range 24 to 78 years; 53 women, 44 men) and 100 healthy adults (mean age 45.7 ± 10.3 years, range 23 to 78 years; 58 women, 42 men) were genotyped. The ESR1 PvuII restriction fragment length polymorphism, marked with P (restriction site absent) and p (present), was identified as described earlier. …
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