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A bivariate genome-wide association study identifies ADAM12 as a novel susceptibility gene for Kashin-Beck disease.

Abstract：

:Kashin-Beck disease (KBD) is a chronic osteoarthropathy, which manifests as joint deformities and growth retardation. Only a few genetic studies of growth retardation associated with the KBD have been carried out by now. In this study, we conducted a two-stage bivariate genome-wide association study (BGWAS) of the KBD using joint deformities and body height as study phenotypes, totally involving 2,417 study subjects. Articular cartilage specimens from 8 subjects were collected for immunohistochemistry. In the BGWAS, ADAM12 gene achieved the most significant association (rs1278300 p-value = 9.25 × 10(-9)) with the KBD. Replication study observed significant association signal at rs1278300 (p-value = 0.007) and rs1710287 (p-value = 0.002) of ADAM12 after Bonferroni correction. Immunohistochemistry revealed significantly decreased expression level of ADAM12 protein in the KBD articular cartilage (average positive chondrocyte rate = 47.59 ± 7.79%) compared to healthy articular cartilage (average positive chondrocyte rate = 64.73 ± 5.05%). Our results suggest that ADAM12 gene is a novel susceptibility gene underlying both joint destruction and growth retardation of the KBD.

journal_name

Sci Rep

journal_title

Scientific reports

authors

Hao J,Wang W,Wen Y,Xiao X,He A,Guo X,Yang T,Liu X,Shen H,Chen X,Tian Q,Deng HW,Zhang F

doi

10.1038/srep31792

subject

Has Abstract

pub_date

2016-08-22 00:00:00

pages

31792

issn

2045-2322

pii

srep31792

journal_volume

6

pub_type

杂志文章

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