Center for Women's Health, Mayo Clinic, Rochester, MN, USA; Menopause and Women's Sexual Health Clinic, Division of General Internal Medicine, Mayo Clinic, Rochester, MN, USA; Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Mayo Clinic, Rochester, MN, USA; Women's Health Research Center, Mayo Clinic, Rochester, MN, USA.
Center for Women's Health, Mayo Clinic, Rochester, MN, USA; Division of General Internal Medicine, Mayo Clinic, Jacksonville, FL, USA.
Maturitas. 2023 Oct;176:107797. doi: 10.1016/j.maturitas.2023.107797. Epub 2023 Aug 16.
The severity of menopause-related symptoms varies considerably among women. The determinants of this variation are incompletely understood. The aim of this study was to assess the association between genetic variation in estrogen metabolism and transport pathways and the severity of menopause symptoms.
This was a cross-sectional study of 60 peri- and postmenopausal women in the Mayo Clinic RIGHT study (which involved sequencing of genes involved in drug metabolism and transport), who had also been evaluated in the Women's Health Clinic at Mayo Clinic in Rochester, MN. All participants completed the Menopause Rating Scale (MRS) for assessment of menopause symptoms, including hot flashes. The association between severity of menopause symptoms and the variation in genes encoding 8 enzymes and transporters involved in estrogen metabolism was evaluated.
Lower CYP3A4 activity and higher COMT activity were associated with lower severity of somatic menopause symptoms (p = 0.04 and 0.06, respectively). These associations did not persist after adjustment for hormone therapy use. No differences in MRS scores or hot flash severity were noted among other genetic variant groups. Age at natural menopause was not affected by variations in the genes studied.
The current study did not show an association between genetic variation in estrogen metabolism and transport pathways and the severity of menopause symptoms. Further studies with larger sample sizes may be required to understand this potentially complex association.
绝经相关症状的严重程度在女性之间存在较大差异。导致这种差异的因素尚未完全明确。本研究旨在评估雌激素代谢和转运途径的遗传变异与绝经症状严重程度之间的关系。
这是一项在 Mayo 诊所 RIGHT 研究（涉及参与药物代谢和转运的基因测序）中的 60 名绝经前和绝经后女性的横断面研究，这些女性也在明尼苏达州罗切斯特的 Mayo 诊所妇女健康诊所接受了评估。所有参与者都完成了绝经评定量表（MRS），以评估绝经症状，包括热潮红。评估了编码 8 种参与雌激素代谢的酶和转运蛋白的基因变异与绝经症状严重程度之间的关系。
CYP3A4 活性较低和 COMT 活性较高与躯体绝经症状严重程度较低相关（分别为 p=0.04 和 0.06）。这些关联在调整激素治疗使用后并不存在。在其他遗传变异组中，MRS 评分或热潮红严重程度没有差异。自然绝经年龄不受所研究基因变异的影响。
本研究未显示雌激素代谢和转运途径的遗传变异与绝经症状严重程度之间存在关联。可能需要更大样本量的进一步研究来了解这种潜在的复杂关联。
