Vasomotor symptom prevalence is associated with polymorphisms in sex steroid-metabolizing enzymes and receptors

UMMS Affiliation

Department of Medicine, Division of Preventive and Behavioral Medicine

Publication Date


Document Type



17-Hydroxysteroid Dehydrogenases; Adult; Continental Population Groups; Estrogen Receptor alpha; Estrogen Receptor beta; Estrogens; Female; Health Surveys; Hot Flashes; Humans; Menopause; Middle Aged; Odds Ratio; *Polymorphism, Single Nucleotide; Prevalence


Life Sciences | Medicine and Health Sciences | Women's Studies


The relation of single nucleotide polymorphisms (SNPs) of genes involved in estrogen function to vasomotor symptoms (VMS) has been inadequately explored. We evaluated SNPs in sex steroid-metabolizing genes and estrogen receptors (ERs) for their association with VMS (hot flashes, night sweats, and/or cold sweats) reported by women who were premenopausal or in early perimenopause at baseline. The study population was drawn from participants in the Study of Women's Health Across the Nation (SWAN). African American, Caucasian, Chinese, and Japanese women, 42 to 52 years of age at baseline, who were enrolled in the longitudinal, community-based cohort of SWAN provided questionnaire, interview, weight and height measurements, and serum samples through the sixth annual visit. SNPs associated with the sex steroid hormone pathway were genotyped and available for 1,538 participants. These SNPs were associated with reporting VMS > or =6 days compared with race/ethnicity-specific repeated measures logistic regression models. Participants were on average 46 years old at baseline. The prevalence of VMS reporting increased in all racial/ethnic groups from baseline to the sixth annual follow-up visit. After adjustment for covariates, several SNPs encoding genes responsible for estrogen metabolism and ERs were associated with decreased odds of reporting VMS, including the CYP1B1 rs1056836 GC genotype in African American women; 17HSD rs615942 TG, 17HSD rs592389 TG, and 17HSD rs2830 AG genotypes in Caucasian women; and the CYP1A1 rs2606345 AC genotype in Chinese women. We identified race/ethnicity-specific associations between VMS reporting and specific polymorphisms for sex steroid-metabolizing enzymes and sex steroid receptors. Clarification of the mechanisms of the associations and confirmation in other populations is warranted.

DOI of Published Version



Am J Med. 2006 Sep;119(9 Suppl 1):S52-60. Link to article on publisher's site

Journal/Book/Conference Title

The American journal of medicine

Related Resources

Link to article in PubMed

PubMed ID