title: Heterogeneous genetic associations of nucleotide sequence variants with bone mineral density by gender.
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 × 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 × 10(-4)), but not in males (P > 3.79 × 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.
authors.affiliation: School of Systems Biomedical Science, Soongsil University, Seoul, Korea.
authors.forename: Jiyoung
authors.initials: J
authors.lastname: Woo
authors.forename: Younyoung
authors.initials: Y
authors.lastname: Kim
authors.forename: Chaeyoung
authors.initials: C
authors.lastname: Lee
mesh_terms: D015519:Bone Density / Q000235:genetics*; D015331:Cohort Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010024:Osteoporosis / Q000453:epidemiology* / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011884:Radius / Q000000981:diagnostic imaging; D056910:Republic of Korea / Q000453:epidemiology; D012737:Sex Factors; D013977:Tibia / Q000000981:diagnostic imaging; D014463:Ultrasonography