Developmental dysplasia of the hip (DDH) is a common skeletal disorder whereby genetic factors play a role in etiology. Multiple genes have been reported to be associated with the occurrence of DDH. WISP3 gene was found to be a causative gene for progressive pseudorheumatoid dysplasia (PPD). Reports of WISP3 gene in association with DDH are lacking. We conducted a case-control candidate gene association study enrolling three hundred and eighty-six patients with radiology confirmed DDH and 558 healthy controls. Additional haplotype-analysis was conducted to find the significant haplotype for DDH. Five SNPs rs69306665 (upstream of WISP3), rs1022313 (WISP3), rs1230345 (WISP3), rs17073268 (WISP3) and rs10456877 (downstream of WISP3) were identified for association with DDH, showing significant difference of allele frequencies with similar odds ratio ranging from 0.71 to 0.77 (p < 0.01) between cases and controls. Two haplotypes were identified between cases and controls through haplotype analysis: AAAAA with an odds ratio of 0.76 (95% CI: 0.60-0.98, p = 0.032299) and GGCGG with an odds ratio of 1.67 (95% CI: 1.37-2.04, p = 3.67 ∗ 10-7). The results suggested WISP3 gene was associated with DDH in Chinese Han population. GGCGG haplotype might be a biomarker for DDH.
Keywords: Association study; Developmental dysplasia of the hip; Haplotype; Single nucleotide polymorphism; WISP3.
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