DNA was extracted from venous blood, genotyped using the Human Hap610 arrays and CNV determined from the fluorescence intensity data in 2070 Caucasian men and women aged 47.0 ¡À 13.0 (mean ¡À SD) years, to assess the effects of the CNV on bone mineral density at the forearm, spine and total hip sites.
Data for covariate adjusted bone mineral density from subjects grouped by APC CNV genotype showed significant difference (P = 0.02-0.002). Subjects with a single copy loss of APC had a 7.95 % , 13.10 % and 13.36 % increase in bone mineral density at the forearm, spine and total hip sites respectively, compared to subjects with two copies of the APC gene.
These data support previous findings of APC regulating bone mineral density and demonstrate that a novel CNV of the APC gene is significantly associated with bone mineral density in Caucasian men and women.