Four Osteoporosis Risk Genes-their single and multiple SNP frequencies and clinical implications

• Main Authors: Yen-Ping Hu Peng, 胡彭彥平
• Other Authors: Chan-Ping Lee
• Format: Others
• Language: zh-TW
• Published: 2011
• Online Access: http://ndltd.ncl.edu.tw/handle/01910063445937132499

碩士 === 慈濟大學 === 微生物學免疫學暨生物化學研究所 === 99 === Globally, genetic or inherited factors may account for up to 50% or more of the variance in bone mineral density (BMD) and body mass index (BMI) values in the population. In Taiwan, osteoporosis in the populations of 40 years and older, with lumbar vertebrate fractures or femoral neck fractures are 10.08% and 7.45% respectively. Vitamin D receptor (VDR) increase the transcription of more genes related to the bone metabolism. The estrogen receptor 1 (ESR1) is to regulate the function of estrogen on the bone. Transforming growth factor β1 (TGFβ1) is to regulate the apoptosis of osteoclasts. Collagen type I alpha 1 (COL1α1) is the most abundant protein of the bone matrix. The frequencies of the detrimental homozygous and heterozygous SNPs of VDR (rs11568820, G>A; rs2228570, T>C; rs1544410, A>G; rs32465677, T>G; rs731236, T>C), ESR1 (rs2232693, C>T; rs9340779, A>G), TGFβ1 (rs1800469, T>C; rs1800472, C>T), and COL1α1 (rs1800012, G>T) are 71%, 0%, 63%, 13%, 0%, 32%, 41%, 16%, 0%, and 0% in Han Chinese and 32%, 0%, 88%, 8%, 0%, 20%, 36%, 47%, 0%, and 0% in aborigines. The genotype and allelic type frequency differences between the Han Chinese and aborigines and between male and female were compared using the Chi-square test. The genotype frequencies of VDR Cdx2 (rs11568820, G>A, P<0.05) and TGFβ1-1348 (rs1800469, T>C, P<0.05) showed significant difference between Han Chinese and aborigines. The allelic type frequencies of VDR ForkI (rs2228570, T>C, P<0.05) and TGFβ1-1348 (rs1800469, T>C, P<0.05) showed significant difference between Han Chinese and aborigines.