Gene variant linked to uterine fibroid risk

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Gene Variant Linked to Uterine Fibroid Risk
Gene Variant Linked to Uterine Fibroid Risk

(HealthDay News) -- A variant of a gene involved in fatty acid synthesis that is often overproduced in cancers is associated with a higher risk of developing uterine fibroids, according to research published in the Oct. 5 issue of the American Journal of Human Genetics.

Stacey L. Eggert, Ph.D., from Harvard Medical School in Boston, and colleagues performed a genome-wide analysis in 261 pairs of white sisters, both of whom had uterine leiomyomata, and their families, to identify single nucleotide polymorphisms linked to fibroids. Genome-wide association studies were also performed in two independent groups of white women and a meta-analysis was performed.

The researchers found that both studies identified a candidate variant in 17q25.3, rs4247357 (odds ratio 1.299), which spanned three genes, including fatty acid synthase (FASN). Fatty acid synthase (FAS) levels were three-fold higher in fibroid tissue compared with matched myometrial tissue. FAS transcripts and protein levels were higher in various cancers and implicated in tumor cell survival.

"FASN represents the initial uterine leiomyomata risk allele identified in white women by a genome-wide, unbiased approach and opens a path to management and potential therapeutic intervention," Eggert and colleagues conclude.

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