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

被引：7
作者：
Tai, Zhengfu [1 ,2 ,3 ,5 ]
Huang, Lulin [1 ,2 ,3 ,4 ,5 ]
Lu, Fang [1 ,2 ,4 ,5 ]
Shi, Yi [1 ,2 ,4 ,5 ]
Ma, Shi [1 ,2 ,4 ,5 ]
Cheng, Jing [1 ,2 ,4 ,5 ]
Lin, He [1 ,2 ,4 ,5 ]
Liu, Xin [1 ,2 ]
Li, Yuanfeng [1 ,2 ,4 ,5 ]
Yang, Zhenglin [1 ,2 ,3 ,4 ,5 ,6 ]
机构：
[1] Hosp Univ Elect Sci & Technol China, Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R China
[2] Sichuan Prov Peoples Hosp, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R China
[3] Chinese Acad Sci, Chengdu Inst Biol, Chengdu, Sichuan, Peoples R China
[4] Univ Elect Sci & Technol China, Sch Med, Chengdu, Sichuan, Peoples R China
[5] Chinese Acad Sci, Sichuan Translat Med Res Hosp, Chengdu, Sichuan, Peoples R China
[6] Hosp Univ Elect Sci & Technol China, Ctr Human Mol Biol & Genet, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R China
来源：
BMC MEDICAL GENETICS | 2017年 / 18卷
基金：
中国国家自然科学基金;
关键词：
Kashin-Beck Disease; Osteoarthritis; FRZB; ASPN; COL10A1; HABP2; GENOME-WIDE ASSOCIATION; RADIOGRAPHIC KNEE OSTEOARTHRITIS; SINGLE-NUCLEOTIDE POLYMORPHISMS; X COLLAGEN; CLINICAL-MANIFESTATIONS; ARTICULAR-CARTILAGE; HIP OSTEOARTHRITIS; ADAM12; GENE; SELENIUM; COL10A1;
D O I：
10.1186/s12881-017-0423-6
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
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.
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页数：8
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