title: Significant Associations of SOX9 Gene Polymorphism and Gene Expression with the Risk of Osteonecrosis of the Femoral Head in a Han Population in Northern China.
abstract: Sex determining region Y-box 9 (SOX9) is a key transcription factor involved in cartilage formation during the embryonic development stage and cartilage growth and repair after birth. To explore the roles of polymorphism and expression of the SOX9 gene in the development of osteonecrosis of the femoral head (ONFH), we analyzed the polymorphism of rs12601701 [A/G] and rs1042667 [A/C] and the serum protein expression of the SOX9 gene in 182 patients with ONFH and 179 healthy control subjects. Results revealed that the A-A haplotype of SOX9 gene as well as the GG and AA genotypes of rs12601701 was significantly associated with increased ONFH risk (P= 0.038) and the risk of bilateral hip lesions of ONFH (P= 0.009), respectively. The C-A, A-A, and A-G haplotypes were also statistically associated with the decreased and increased risk of bilateral hip lesions of ONFH (P= 0.03,P= 0.048, andP= 0.013), respectively, while the A-A haplotype closely related to the clinical stages of ONFH (P= 0.041). More importantly, the serum SOX9 protein expression of the ONFH group was greatly decreased compared to control group (P= 0.0001). Our results first showed that the gene polymorphism and gene expression of SOX9 were significantly associated with the risk and clinical phenotypes of ONFH and also indicate that the SOX9 gene may play a key role in the development of ONFH.
authors.affiliation: Department of Orthopedics, Second Clinical College, Jilin University, Ziqiang Street 218, Changchun 130041, China; Engineering Research Center of Molecular Diagnosis and Cellular Treatment for Metabolic Bone Diseases in Jilin Province, Ziqiang Street 218, Changchun 130041, China.
authors.forename: Yang
authors.initials: Y
authors.lastname: Song
authors.affiliation: Department of Orthopedics, Second Clinical College, Jilin University, Ziqiang Street 218, Changchun 130041, China; Engineering Research Center of Molecular Diagnosis and Cellular Treatment for Metabolic Bone Diseases in Jilin Province, Ziqiang Street 218, Changchun 130041, China; Research Center, Second Clinical College, Jilin University, Ziqiang Street 218, Changchun 130041, China.
authors.forename: Zhenwu
authors.identifier: 0000-0003-0342-0353
authors.initials: Z
authors.lastname: Du
authors.affiliation: Department of Orthopedics, Second Clinical College, Jilin University, Ziqiang Street 218, Changchun 130041, China; Engineering Research Center of Molecular Diagnosis and Cellular Treatment for Metabolic Bone Diseases in Jilin Province, Ziqiang Street 218, Changchun 130041, China.
authors.forename: Ming
authors.initials: M
authors.lastname: Ren
authors.affiliation: Research Center, Second Clinical College, Jilin University, Ziqiang Street 218, Changchun 130041, China.
authors.forename: Qiwei
authors.initials: Q
authors.lastname: Yang
authors.affiliation: Research Center, Second Clinical College, Jilin University, Ziqiang Street 218, Changchun 130041, China.
authors.forename: Yujie
authors.initials: Y
authors.lastname: Sui
authors.affiliation: Research Center, Second Clinical College, Jilin University, Ziqiang Street 218, Changchun 130041, China.
authors.forename: Qingyu
authors.initials: Q
authors.lastname: Wang
authors.affiliation: Department of Orthopedics, Second Clinical College, Jilin University, Ziqiang Street 218, Changchun 130041, China.
authors.forename: Ao
authors.initials: A
authors.lastname: Wang
authors.affiliation: Research Center, Second Clinical College, Jilin University, Ziqiang Street 218, Changchun 130041, China.
authors.forename: Haiyue
authors.initials: H
authors.lastname: Zhao
authors.affiliation: Department of Orthopedics, Second Clinical College, Jilin University, Ziqiang Street 218, Changchun 130041, China; Engineering Research Center of Molecular Diagnosis and Cellular Treatment for Metabolic Bone Diseases in Jilin Province, Ziqiang Street 218, Changchun 130041, China.
authors.forename: Jincheng
authors.identifier: 0000-0002-1217-5962
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Orthopedics, Second Clinical College, Jilin University, Ziqiang Street 218, Changchun 130041, China; Engineering Research Center of Molecular Diagnosis and Cellular Treatment for Metabolic Bone Diseases in Jilin Province, Ziqiang Street 218, Changchun 130041, China; Research Center, Second Clinical College, Jilin University, Ziqiang Street 218, Changchun 130041, China.
authors.forename: Guizhen
authors.identifier: 0000-0003-1313-8001
authors.initials: G
authors.lastname: Zhang
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000208:ethnology / Q000235:genetics; D002681:China / Q000208:ethnology; D005260:Female; D005271:Femur Head Necrosis / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism*; D005786:Gene Expression Regulation; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D012307:Risk Factors; D055758:SOX9 Transcription Factor / Q000096:biosynthesis / Q000235:genetics
chemical_list: D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human