A common variant rs2054564 in ADAMST17 is associated with susceptibility to lumbar spondylosis.

ABSTRACT: The molecular pathophysiology underlying lumbar spondylosis development remains unclear. To identify genetic factors associated with lumbar spondylosis, we conducted a genome-wide association study using 83 severe lumbar spondylosis cases and 182 healthy controls and identified 65 candidate disease-associated single nucleotide polymorphisms (SNPs). Replication analysis in 510 case and 911 control subjects from five independent Japanese cohorts identified rs2054564, located in intron 7 of ADAMTS17, as a disease-associated SNP with a genome-wide significance threshold (P = 1.17 × 10^-11, odds ratio = 1.92). This association was significant even after adjustment of age, sex, and body mass index (P = 7.52 × 10^-11). A replication study in a Korean cohort, including 123 case

SUBMITTER: Taniguchi Y 

PROVIDER: S-EPMC10039864 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature