BoneKEy Reports | BoneKEy Watch

FAM3c gene variant rs7776725 is important in osteoporosis risk

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DOI:10.1038/bonekey.2012.39

Zhang et al. used two large cohorts of US Caucasians in an attempt to replicate an association between bone mineral density (BMD) and two single nucleotide polymorphisms identified by a recent genome-wide association study (GWAS) in Koreans. This GWAS had suggested that both rs7776725 and rs1721400 influenced BMD at multiple skeletal sites.

The follow-up study revealed a highly significant association between rs7776725 and wrist BMD (combined P=1.42×10−16), and strong associations with BMD at the hip, spine and whole body. The association between wrist BMD and rs1721400 was weak (P=0.017).

Variant rs77767215 is within the first intron of the FAM3c gene; four other SNPs identified in this gene were associated with BMD at the wrist and other sites in the skeleton, indicating that FAM3c could play an important role in bone metabolism.

Editor's comment: The SNPs are common variants on chromosome 7; rs7776725 is in gene FAM3c, and the other, rs1721400, maps close to SFRP4. The variant rs7776725 is consistently associated with hip, spine, wrist and whole-body BMD in Korean and Caucasian populations; further studies should help discover the functional variants that are important in maintaining BMD.

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