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Association study of candidate genes for susceptibility to Kashin-Beck disease in a Tibetan population.
BMC Med Genet. 2017 06 26; 18(1):69.BM

Abstract

BACKGROUND

Many osteoarthritis (OA) susceptibility genes have been identified in recent years. Given the overlap in the phenotype of joint inflammation between OA and Kashin-Beck disease (KBD), the aim of this study is to explore whether the reported OA susceptibility genes and two genes that may link to OA pathophysiology are associated with KBD in the Tibetan population.

METHOD

Fifteen single-nucleotide polymorphisms (SNPs) in 12 candidate genes previously reported as OA susceptibility loci were selected for investigation. Genotyping was performed using the SNaPshot method for these SNPs in a Tibetan population composed of 849 KBD patients and 565 normal controls. Meanwhile, the coding regions of two genes, COL10A1 and HABP2, which may involve in the pathological mechanism of OA/KBD, were sequenced by Sanger sequencing to identify susceptibility coding variants for KBD in the Tibetan population.

RESULTS

The two arthritis-susceptible candidate SNPs, rs7775 (p.Arg324Gly) in the FRZB gene and rs7033979 in the ASPN gene, showed associations with KBD (OR = 1.568, P = 4 × 10-3 and OR = 0.744, P = 8 × 10-3, respectively). The coding variants rs142463796 (p.Asp128Asn) and rs2228547 (p.Gly545Arg) in the COL10A1 gene (OR = 9.832 and P = 6 × 10-3 and OR = 1.242, P = 0.043, respectively) and rs548354451 (p.Asp272Glu) in the HABP2 gene (OR = 2.813, P = 0.010) were associated with KBD patients.

CONCLUSION

These finding suggested that rs7775 in the FRZB gene may increase susceptibility to KBD, while rs7033979 in the ASPN gene may play a protective role in susceptibility to KBD in Tibetans. Moreover, genetic variants in chondrogenesis-related genes COL10A1 and HABP2 may play a role in the risk of developing KBD in the Tibetan population.

Authors+Show Affiliations

The Key Laboratory for Human Disease Gene Study, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China. Chengdu Institute of Biology, Chinese Academy of Sciences, Chengdu, Sichuan, China. Sichuan Translational Medicine Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China.The Key Laboratory for Human Disease Gene Study, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China. Chengdu Institute of Biology, Chinese Academy of Sciences, Chengdu, Sichuan, China. School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China. Sichuan Translational Medicine Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China.The Key Laboratory for Human Disease Gene Study, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China. School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China. Sichuan Translational Medicine Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China.The Key Laboratory for Human Disease Gene Study, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China. School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China. Sichuan Translational Medicine Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China.The Key Laboratory for Human Disease Gene Study, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China. School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China. Sichuan Translational Medicine Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China.The Key Laboratory for Human Disease Gene Study, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China. School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China. Sichuan Translational Medicine Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China.The Key Laboratory for Human Disease Gene Study, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China. School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China. Sichuan Translational Medicine Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China.The Key Laboratory for Human Disease Gene Study, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China.The Key Laboratory for Human Disease Gene Study, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China. School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China. Sichuan Translational Medicine Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China.The Key Laboratory for Human Disease Gene Study, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China. zliny@yahoo.com. Chengdu Institute of Biology, Chinese Academy of Sciences, Chengdu, Sichuan, China. zliny@yahoo.com. School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China. zliny@yahoo.com. Sichuan Translational Medicine Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China. zliny@yahoo.com. Center for Human Molecular Biology & Genetics, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial, People's Hospital, 32 The First Ring Road West 2, Chengdu, Sichuan, 610072, China. zliny@yahoo.com.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

28651521

Citation

Tai, Zhengfu, et al. "Association Study of Candidate Genes for Susceptibility to Kashin-Beck Disease in a Tibetan Population." BMC Medical Genetics, vol. 18, no. 1, 2017, p. 69.
Tai Z, Huang L, Lu F, et al. Association study of candidate genes for susceptibility to Kashin-Beck disease in a Tibetan population. BMC Med Genet. 2017;18(1):69.
Tai, Z., Huang, L., Lu, F., Shi, Y., Ma, S., Cheng, J., Lin, H., Liu, X., Li, Y., & Yang, Z. (2017). Association study of candidate genes for susceptibility to Kashin-Beck disease in a Tibetan population. BMC Medical Genetics, 18(1), 69. https://doi.org/10.1186/s12881-017-0423-6
Tai Z, et al. Association Study of Candidate Genes for Susceptibility to Kashin-Beck Disease in a Tibetan Population. BMC Med Genet. 2017 06 26;18(1):69. PubMed PMID: 28651521.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Association study of candidate genes for susceptibility to Kashin-Beck disease in a Tibetan population. AU - Tai,Zhengfu, AU - Huang,Lulin, AU - Lu,Fang, AU - Shi,Yi, AU - Ma,Shi, AU - Cheng,Jing, AU - Lin,He, AU - Liu,Xin, AU - Li,Yuanfeng, AU - Yang,Zhenglin, Y1 - 2017/06/26/ PY - 2015/09/28/received PY - 2017/05/11/accepted PY - 2017/6/28/entrez PY - 2017/6/28/pubmed PY - 2017/7/25/medline KW - ASPN KW - COL10A1 KW - FRZB KW - HABP2 KW - Kashin-Beck Disease KW - Osteoarthritis SP - 69 EP - 69 JF - BMC medical genetics JO - BMC Med. Genet. VL - 18 IS - 1 N2 - BACKGROUND: Many osteoarthritis (OA) susceptibility genes have been identified in recent years. Given the overlap in the phenotype of joint inflammation between OA and Kashin-Beck disease (KBD), the aim of this study is to explore whether the reported OA susceptibility genes and two genes that may link to OA pathophysiology are associated with KBD in the Tibetan population. METHOD: Fifteen single-nucleotide polymorphisms (SNPs) in 12 candidate genes previously reported as OA susceptibility loci were selected for investigation. Genotyping was performed using the SNaPshot method for these SNPs in a Tibetan population composed of 849 KBD patients and 565 normal controls. Meanwhile, the coding regions of two genes, COL10A1 and HABP2, which may involve in the pathological mechanism of OA/KBD, were sequenced by Sanger sequencing to identify susceptibility coding variants for KBD in the Tibetan population. RESULTS: The two arthritis-susceptible candidate SNPs, rs7775 (p.Arg324Gly) in the FRZB gene and rs7033979 in the ASPN gene, showed associations with KBD (OR = 1.568, P = 4 × 10-3 and OR = 0.744, P = 8 × 10-3, respectively). The coding variants rs142463796 (p.Asp128Asn) and rs2228547 (p.Gly545Arg) in the COL10A1 gene (OR = 9.832 and P = 6 × 10-3 and OR = 1.242, P = 0.043, respectively) and rs548354451 (p.Asp272Glu) in the HABP2 gene (OR = 2.813, P = 0.010) were associated with KBD patients. CONCLUSION: These finding suggested that rs7775 in the FRZB gene may increase susceptibility to KBD, while rs7033979 in the ASPN gene may play a protective role in susceptibility to KBD in Tibetans. Moreover, genetic variants in chondrogenesis-related genes COL10A1 and HABP2 may play a role in the risk of developing KBD in the Tibetan population. SN - 1471-2350 UR - https://www.unboundmedicine.com/medline/citation/28651521/Association_study_of_candidate_genes_for_susceptibility_to_Kashin_Beck_disease_in_a_Tibetan_population_ L2 - https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-017-0423-6 DB - PRIME DP - Unbound Medicine ER -