Association of Col6a3 Missense Variants with Uterine Leiomyomata
Keywords:
COL6A3, Uterine leiomyoma, Missense variantsAbstract
Uterine fibroids or Uterine leiomyomata (UL), are non-malignant smooth muscle tumors of the uterus, identified in women of child bearing age. They usually develop in the third to fourth decade of life. UL may be asymptomatic or cause heavy and abnormal bleeding, pressure and pain in the pelvic region, difficulty in conceiving or causing repetitive abortions. They tend to shrink in size after menopause indicating that hormones play a role in their aetiology apart from other molecular factors. Missense variants of collagens have been associated with UL. Two polymorphism rs2270669 and rs36117715 of the collagen 6A3 gene have been evaluated in fibroids in this study. DNA samples of women with and without leiomyoma were evaluated for COL6A3 gene polymorphisms. This is the first study indicating susceptibility of South Indian women to UL with missense polymorphisms of COL6A3 gene.
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