| Summary: | Osteoporosis, characterized by reduced bone mass and increased bone fragility, is a disease prevalent in women. Likewise, breast cancer is a multifactorial disease and considered the major cause of mortality in premenopausal and postmenopausal women worldwide. Our data demonstrated the association of the <i>MYLK</i> gene and <i>PTGS1</i> gene variants with osteoporosis and benign breast tumor risk and the impact of ovariectomy on osteoporosis in Korean women. We performed a genome-wide association study (GWAS) of women with osteoporosis and benign breast tumors. There were 60 single nucleotide polymorphisms (SNPs) and 12 SNPs in the <i>MYLK</i> and <i>PTGS1</i> genes, associated with benign breast tumors and osteoporosis. Our study showed that women with homozygous <i>MYLK</i> rs12163585 major alleles had an increased risk of osteoporosis following ovariectomy compared to those with minor alleles. Women carrying the minor <i>PTGS1</i> rs1213265 allele and not treated via ovariectomy carried a higher risk of osteoporosis than those who underwent ovariectomy with a homozygous genotype at the major alleles. Our results suggest that both the <i>MYLK</i> and <i>PTGS1</i> genes are genetic factors associated with the phenotypes, and these associations appear to be modulated by ovariectomy.
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