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Probing the genetics of fibroids

Oct. 1, 2018, 8:05 AM

Most American women develop at least one uterine fibroid — a non-cancerous uterine tumor — by the age of menopause. Fibroids may cause pain, infertility, miscarriage and preterm labor. Treatment and lost time at work add up to $34 billion in annual costs.

Genome wide association studies (GWAS) have identified some genetic regions associated with increased risk for fibroids. Digna Velez Edwards, PhD, and colleagues have now conducted the first GWAS to search for genetic loci associated with differences in fibroid size and number.

They report in the journal Fertility and Sterility a study of 1520 women — 609 African-American and 911 European-American — with documented fibroid characteristics. The investigators identified multiple novel associations between genetic loci and fibroid size and number in both race-specific and transethnic analyses.

They also found an association between predicted expression of the gene EDEM2 in the thyroid and fibroid number, suggesting a role for altered hormone levels. Further studies are necessary to understand mechanisms underlying these associations.

This research was supported by grants from the National Institutes of Health (HD074711, HD078567, HD093671, GM080178, TR000447, TR000445).

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