Heterogeneous genetic associations of nucleotide sequence variants with bone mineral density by gender
- Authors
- Woo, Jiyoung; Kim, Younyoung; Lee, Chaeyoung
- Issue Date
- Mar-2012
- Publisher
- SPRINGER
- Keywords
- Bone mineral density; FAM3C; Heterogeneous genetic association; Osteoporosis
- Citation
- MOLECULAR BIOLOGY REPORTS, v.39, no.3, pp.2259 - 2265
- Journal Title
- MOLECULAR BIOLOGY REPORTS
- Volume
- 39
- Number
- 3
- Start Page
- 2259
- End Page
- 2265
- URI
- http://scholarworks.bwise.kr/ssu/handle/2018.sw.ssu/12481
- DOI
- 10.1007/s11033-011-0975-z
- ISSN
- 0301-4851
- Abstract
- We examined genetic associations of previously identified sequence variants with bone mineral density and their heterogeneity by gender. Large-scale cohort data were used including a total of 8,419 subjects (4,034 males and 4,385 females) from the Korean Association REsource (KARE) cohort. Bone speed of sound (SOS) values were measured at distal radius or mid-shaft tibia by quantitative ultrasound. Genotypic associations of SOS were tested with each of nucleotide sequence variants identified by previous studies. The genetic association analysis revealed that 2 out of 11 nucleotide sequence variants were associated with SOS (rs1721400, rs7776725, P < 7.58 x 10(-4)). Further analysis with partitioning data by gender showed that the mid-shaft tibia phenotypes were associated with the rs1721400 and rs7776725 in females (P < 3.79 x 10(-4)), but not in males (P > 3.79 x 10(-4)). The current study suggested female-specific associations of rs1721400 and rs7776725 with bone mineral density and heterogeneity of genetic association by skeletal site measured for bone mineral density.
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