<i>MYLK</i> and <i>PTGS1</i> Genetic Variations Associated with Osteoporosis and Benign Breast Tumors in Korean Women

• Main Authors: Hye-Won Cho, Hyun-Seok Jin, Yong-Bin Eom
• Format: Article
• Language: English
• Published: MDPI AG 2021-03-01
• Series: Genes
• Subjects: osteoporosis; benign breast tumor; ovariectomy; <i>MYLK</i>; <i>PTGS1</i>; genome-wide association study
• Online Access: https://www.mdpi.com/2073-4425/12/3/378

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.