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CX3CR1 polymorphisms associated with an increased risk of developmental dysplasia of the hip in human
Author(s) -
Li Lianyong,
Wang Xi,
Zhao Qun,
Wang Enbo,
Wang Lili,
Cheng Jinshan,
Zhang Lijun,
Wang Binbin
Publication year - 2017
Publication title -
journal of orthopaedic research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.041
H-Index - 155
eISSN - 1554-527X
pISSN - 0736-0266
DOI - 10.1002/jor.23294
Subject(s) - single nucleotide polymorphism , genotyping , snp , medicine , population , genotype , allele , genetics , biology , gene , environmental health
Developmental dysplasia of the hip, also termed congenital hip dislocation, is one of the major causes of children disability and early onset osteoarthritis. Previous study has identified a variant of CX3CR1 underlying this disorder in a large family. However, genetic evidence from population was still lacking. Here, we performed a case‐control association study by genotyping two SNPs of CX3CR1 , rs3732378, and rs3732379, in 689 unrelated hip dislocation patients and 689 normal controls. Genotyping results showed significant difference in genotype distributions of both two polymorphisms ( p = 0.003 for rs3732378 and p = 0.017 for rs3732379). The minor allele frequency of rs3732378 was higher in cases (4.79%) than in controls (2.47%), predisposing carriers to hip dislocation with a 2.25‐fold risk (OR = 2.25, 95%CI 1.42–3.56) after adjustment for gender. Another SNP, rs3732379, was also significantly associated with an increased risk of hip dislocation (adjusted OR = 1.84, 95%CI 1.19–2.84). Through the population study, we demonstrated that CX3CR1 was candidate for the pathogenesis of the disorder, and identified rs3732378 and rs3732379 as susceptibility loci instead of disease‐causing mutations. © 2016 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 35:377–380, 2017.