Association study of candidate genes for susceptibility to Kashin-Beck disease in a Tibetan population

doi:10.1186/s12881-017-0423-6

	Association study of candidate genes for susceptibility to Kashin-Beck disease in a Tibetan population
	Cheng, J; Yang, ZL (reprint author), Hosp Univ Elect Sci & Technol China, Ctr Human Mol Biol & Genet, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R China.; Yang, ZL (reprint author), Chinese Acad Sci, Sichuan Translat Med Res Hosp, Chengdu, Sichuan, Peoples R China.; Yang, ZL (reprint author), Univ Elect Sci & Technol China, Sch Med, Chengdu, Sichuan, Peoples R China.; Yang, ZL (reprint author), Chinese Acad Sci, Chengdu Inst Biol, Chengdu, Sichuan, Peoples R China.; Yang, ZL (reprint author), Sichuan Prov Peoples Hosp, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R China.; Yang, ZL (reprint author), Hosp Univ Elect Sci & Technol China, Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R China.; Yang, ZL; Li, YF; Liu, X
刊名	BMC MEDICAL GENETICS
	2017
卷号	18 页码:69（1-8）
关键词	Kashin-beck Disease Osteoarthritis Frzb Aspn Col10a1 Habp2
DOI	10.1186/s12881-017-0423-6
产权排序	2
文献子类	Article
英文摘要	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 x 10(-3) and OR = 0.744, P = 8 x 10(-3), respectively). The coding variants rs142463796 (p.Asp128Asn) and rs2228547 (p.Gly545Arg) in the COL10A1 gene (OR = 9.832 and P = 6 x 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.
学科主题	Genetics & Heredity
语种	英语
资助机构	This research project was supported by: the National Natural Science Foundation of China (81170883 (Z.Y.), 81300802 (L.H.) and 81170882 (Y.S)); and the Department of Science and Technology of Sichuan Province, China (2014SZ0169, 2015SZ0052 (Z.Y.), 2015JQO057 (L.H.), 2013JY0195 (L.H), 2015SZ0060 (Y.L.) and 2014JZ0004 (Y.S)) ; National Natural Science Foundation of China [81170883, 81300802, 81170882] ; This research project was supported by: the National Natural Science Foundation of China (81170883 (Z.Y.), 81300802 (L.H.) and 81170882 (Y.S)); and the Department of Science and Technology of Sichuan Province, China (2014SZ0169, 2015SZ0052 (Z.Y.), 2015JQO057 (L.H.), 2013JY0195 (L.H), 2015SZ0060 (Y.L.) and 2014JZ0004 (Y.S)) ; National Natural Science Foundation of China [81170883, 81300802, 81170882] ; Department of Science and Technology of Sichuan Province, China [2014SZ0169, 2015SZ0052, 2015JQO057, 2013JY0195, 2015SZ0060, 2014JZ0004] ; Department of Science and Technology of Sichuan Province, China [2014SZ0169, 2015SZ0052, 2015JQO057, 2013JY0195, 2015SZ0060, 2014JZ0004] ; This research project was supported by: the National Natural Science Foundation of China (81170883 (Z.Y.), 81300802 (L.H.) and 81170882 (Y.S)); and the Department of Science and Technology of Sichuan Province, China (2014SZ0169, 2015SZ0052 (Z.Y.), 2015JQO057 (L.H.), 2013JY0195 (L.H), 2015SZ0060 (Y.L.) and 2014JZ0004 (Y.S)) ; National Natural Science Foundation of China [81170883, 81300802, 81170882] ; This research project was supported by: the National Natural Science Foundation of China (81170883 (Z.Y.), 81300802 (L.H.) and 81170882 (Y.S)); and the Department of Science and Technology of Sichuan Province, China (2014SZ0169, 2015SZ0052 (Z.Y.), 2015JQO057 (L.H.), 2013JY0195 (L.H), 2015SZ0060 (Y.L.) and 2014JZ0004 (Y.S)) ; National Natural Science Foundation of China [81170883, 81300802, 81170882] ; Department of Science and Technology of Sichuan Province, China [2014SZ0169, 2015SZ0052, 2015JQO057, 2013JY0195, 2015SZ0060, 2014JZ0004] ; Department of Science and Technology of Sichuan Province, China [2014SZ0169, 2015SZ0052, 2015JQO057, 2013JY0195, 2015SZ0060, 2014JZ0004]
内容类型	期刊论文
源URL	[http://210.75.237.14/handle/351003/29230]
专题	成都生物研究所_天然产物研究
通讯作者	Yang, ZL (reprint author), Hosp Univ Elect Sci & Technol China, Ctr Human Mol Biol & Genet, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R China.; Yang, ZL (reprint author), Chinese Acad Sci, Sichuan Translat Med Res Hosp, Chengdu, Sichuan, Peoples R China.; Yang, ZL (reprint author), Univ Elect Sci & Technol China, Sch Med, Chengdu, Sichuan, Peoples R China.; Yang, ZL (reprint author), Chinese Acad Sci, Chengdu Inst Biol, Chengdu, Sichuan, Peoples R China.; Yang, ZL (reprint author), Sichuan Prov Peoples Hosp, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R China.; Yang, ZL (reprint author), Hosp Univ Elect Sci & Technol China, Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R China.
推荐引用方式 GB/T 7714	Cheng, J,Yang, ZL ,Yang, ZL ,et al. Association study of candidate genes for susceptibility to Kashin-Beck disease in a Tibetan population[J]. BMC MEDICAL GENETICS,2017,18:69（1-8）.
APA	Cheng, J.,Yang, ZL .,Yang, ZL .,Yang, ZL .,Yang, ZL .,...&Tai, ZF.(2017).Association study of candidate genes for susceptibility to Kashin-Beck disease in a Tibetan population.BMC MEDICAL GENETICS,18,69（1-8）.
MLA	Cheng, J,et al."Association study of candidate genes for susceptibility to Kashin-Beck disease in a Tibetan population".BMC MEDICAL GENETICS 18(2017):69（1-8）.