title: Association of KIT gene polymorphisms with bone mineral density in postmenopausal Korean women.
abstract: Bone mineral density (BMD) is a major factor for determining bone strength and osteoporotic fracture risk, and is determined by environmental and multiple genetic factors. KIT, which encodes a transmembrane receptor with tyrosine kinase activity, plays an important role in the differentiation of osteoclasts. We examined the associations between KIT gene polymorphisms and BMD in postmenopausal Korean women. All exons, their boundaries, and the promoter region (approximately 1.5 kb) from 24 individuals were directly sequenced. Eighteen polymorphisms were identified, and three single-nucleotide polymorphisms (SNPs) were genotyped in all study participants (n=946). BMD at the lumbar spine and femoral neck was measured using dual-energy X-ray absorptiometry. The mean age of the study subjects was 58.9+/-7.5 years, and the mean number of years since menopause was 9.6+/-7.9 years. None of the three SNPs (-1694G>T, +41894A>G, and +49512G>A) was significantly associated with BMD value. However, multivariate analysis showed that the ht3 (-1694T-+41894A-+49512G) was significantly associated with lower BMD at the femoral neck (P=0.007 in the recessive model). These findings indicate that KIT-ht3 may be a useful genetic marker for osteoporosis and that KIT may have a role on bone metabolism in humans.
authors.affiliation: Skeletal Diseases Genome Research Center, Kyungpook National University Hospital, Daegu, South Korea.|Department of Orthopaedic Surgery, School of Medicine, Kyungpook National University Hospital, Daegu, South Korea.
authors.forename: Shin-Yoon
authors.initials: SY
authors.lastname: Kim
authors.affiliation: National Genome Research Institute, National Institute of Health, 5 Nokbun-Dong, Eunpyung-Ku, Seoul, South Korea.
authors.forename: Jong-Young
authors.initials: JY
authors.lastname: Lee
authors.affiliation: Skeletal Diseases Genome Research Center, Kyungpook National University Hospital, Daegu, South Korea.|Department of Internal Medicine, Sanbon Medical Center, University of Wonkwang College of Medicine, Iksan, South Korea.
authors.forename: Ha Young
authors.initials: HY
authors.lastname: Kim
authors.affiliation: National Genome Research Institute, National Institute of Health, 5 Nokbun-Dong, Eunpyung-Ku, Seoul, South Korea.
authors.forename: Bermseok
authors.initials: B
authors.lastname: Oh
authors.affiliation: Department of Biochemistry, Eulji University Hospital, Daejeon, South Korea.
authors.forename: Kuchan
authors.initials: K
authors.lastname: Kimm
authors.affiliation: National Genome Research Institute, National Institute of Health, 5 Nokbun-Dong, Eunpyung-Ku, Seoul, South Korea.
authors.forename: Hyung-Lae
authors.initials: HL
authors.lastname: Kim
authors.affiliation: Department of Genetic Epidemiology, SNP Genetics, Inc., 11th Floor, Maehun B/D, 13 Chongro 4 Ga, Chongro Gu, Seoul, South Korea.
authors.forename: Byung Lae
authors.initials: BL
authors.lastname: Park
authors.affiliation: Department of Genetic Epidemiology, SNP Genetics, Inc., 11th Floor, Maehun B/D, 13 Chongro 4 Ga, Chongro Gu, Seoul, South Korea.
authors.forename: Hyoung Doo
authors.initials: HD
authors.lastname: Shin
authors.affiliation: Skeletal Diseases Genome Research Center, Kyungpook National University Hospital, Daegu, South Korea.|Department of Pathology and Regenerative Medicine, School of Dentistry, Kyungpook National University, Daegu, South Korea.
authors.forename: Eui Kyun
authors.initials: EK
authors.lastname: Park
authors.affiliation: Skeletal Diseases Genome Research Center, Kyungpook National University Hospital, Daegu, South Korea. jmkoh@amc.seoul.kr.|Division of Endocrinology and Metabolism, Asan Medical Center, University of Ulsan College of Medicine, 388-1 Pungnap-2dong, Songpa-gu, Seoul, 138-736, South Korea. jmkoh@amc.seoul.kr.
authors.forename: Jung-Min
authors.initials: JM
authors.lastname: Koh
authors.affiliation: Skeletal Diseases Genome Research Center, Kyungpook National University Hospital, Daegu, South Korea.|Division of Endocrinology and Metabolism, Asan Medical Center, University of Ulsan College of Medicine, 388-1 Pungnap-2dong, Songpa-gu, Seoul, 138-736, South Korea.
authors.forename: Ghi Su
authors.initials: GS
authors.lastname: Kim
mesh_terms: D000368:Aged; D015519:Bone Density / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007723:Korea; D016015:Logistic Models; D008875:Middle Aged; D015663:Osteoporosis, Postmenopausal / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017698:Postmenopause; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*
chemical_list: D019009:Proto-Oncogene Proteins c-kit