Association of KIT gene polymorphisms with bone mineral density in postmenopausal Korean women. 2007

Shin-Yoon Kim, and Jong-Young Lee, and Ha Young Kim, and Bermseok Oh, and Kuchan Kimm, and Hyung-Lae Kim, and Byung Lae Park, and Hyoung Doo Shin, and Eui Kyun Park, and Jung-Min Koh, and Ghi Su Kim
Skeletal Diseases Genome Research Center, Kyungpook National University Hospital, Daegu, South Korea.

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.

UI MeSH Term Description Entries
D007723 Korea Former kingdom, located on Korea Peninsula between Sea of Japan and Yellow Sea on east coast of Asia. In 1948, the kingdom ceased and two independent countries were formed, divided by the 38th parallel.
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000368 Aged A person 65 years of age or older. For a person older than 79 years, AGED, 80 AND OVER is available. Elderly
D015519 Bone Density The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by X-RAY ABSORPTIOMETRY or TOMOGRAPHY, X RAY COMPUTED. Bone density is an important predictor for OSTEOPOROSIS. Bone Mineral Content,Bone Mineral Density,Bone Densities,Bone Mineral Contents,Bone Mineral Densities,Density, Bone,Density, Bone Mineral
D015663 Osteoporosis, Postmenopausal Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency. Bone Loss, Perimenopausal,Bone Loss, Postmenopausal,Perimenopausal Bone Loss,Postmenopausal Bone Loss,Postmenopausal Osteoporosis,Osteoporosis, Post-Menopausal,Bone Losses, Perimenopausal,Bone Losses, Postmenopausal,Osteoporoses, Post-Menopausal,Osteoporoses, Postmenopausal,Osteoporosis, Post Menopausal,Perimenopausal Bone Losses,Post-Menopausal Osteoporoses,Post-Menopausal Osteoporosis,Postmenopausal Bone Losses,Postmenopausal Osteoporoses
D016015 Logistic Models Statistical models which describe the relationship between a qualitative dependent variable (that is, one which can take only certain discrete values, such as the presence or absence of a disease) and an independent variable. A common application is in epidemiology for estimating an individual's risk (probability of a disease) as a function of a given risk factor. Logistic Regression,Logit Models,Models, Logistic,Logistic Model,Logistic Regressions,Logit Model,Model, Logistic,Model, Logit,Models, Logit,Regression, Logistic,Regressions, Logistic
D017698 Postmenopause The physiological period following the MENOPAUSE, the permanent cessation of the menstrual life. Post-Menopause,Post-menopausal Period,Postmenopausal Period,Period, Post-menopausal,Period, Postmenopausal,Post Menopause,Post menopausal Period,Post-Menopauses
D019009 Proto-Oncogene Proteins c-kit A protein-tyrosine kinase receptor that is specific for STEM CELL FACTOR. This interaction is crucial for the development of hematopoietic, gonadal, and pigment stem cells. Genetic mutations that disrupt the expression of PROTO-ONCOGENE PROTEINS C-KIT are associated with PIEBALDISM, while overexpression or constitutive activation of the c-kit protein-tyrosine kinase is associated with tumorigenesis. Antigens, CD117,CD117 Antigens,Receptor, Stem Cell Factor,Stem Cell Factor Receptor,c-kit Protein,c-kit Receptor,kit Proto-Oncogene Protein,p145(c-kit),CD117 Antigen,Proto-Oncogene Protein c-kit,Proto-Oncogene Protein kit,SCF Receptor,p145 c-kit,p145c-kit,Proto Oncogene Protein c kit,Proto Oncogene Protein kit,Proto Oncogene Proteins c kit,Proto-Oncogene Protein, kit,c kit Protein,c kit Receptor,c-kit, Proto-Oncogene Protein,c-kit, Proto-Oncogene Proteins,c-kit, p145,kit Proto Oncogene Protein,p145 c kit,p145c kit

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