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Genetic variants in the ITPR2 gene are associated with Kashin-Beck Disease in Tibetan.
Mol Genet Genomic Med. 2019 07; 7(7):e00715.MG

Abstract

BACKGROUND

Kashin-Beck Disease (KBD) is a chronic, endemic osteoarthropathy. Inositol 1,4,5-triphosphate receptor type 2 (ITPR2) gene is involved in chondrocytes. We speculated that single-nucleotide polymorphisms (SNPs) in ITPR2 gene may have an association with KBD in Tibetan.

METHODS

To prove this hypothesis, a total of eight SNPs (rs1049376, rs11048526, rs11048556, rs11048585, rs16931011, rs10842759, rs2230372, and rs7134213) were selected, and genotyped in 316 KBD patients and 320 controls. The association between ITPR2 variants and KBD risk was assessed by logistic regression analysis.

RESULTS

The study identified significant association (p = 0.019) between KBD and a novel locus, ITPR2 SNP rs11048526 (OR = 1.49, 95% CI = 1.07-2.08). The variant A/G genotype frequency in rs11048526 had a significantly increased risk of KBD in co-dominant model (OR = 3.70, 95% CI = 1.26-10.89, p = 0.018), dominant model (OR = 3.56, 95% CI = 1.22-10.40, p = 0.020), log-additive model (OR = 3.00, 95% CI = 1.12-8.00, p = 0.029) after adjusted for age and gender.

CONCLUSION

The results indicate a potential association between ITPR2 and KBD risk in Tibetan. Further work is required to confirm these results and explore the mechanisms of these effects.

Authors+Show Affiliations

Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, China. Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, China. Key Laboratory for Basic Life Science Research of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, China.Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, China. Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, China. Key Laboratory for Basic Life Science Research of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, China.Department of gynaecology and obstetrics, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China. Department of gynaecology and obstetrics, The Ngari Prefecture People's Hospital, Ngari Prefecture, China.Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, China. Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, China. Key Laboratory for Basic Life Science Research of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, China.Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, China. Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, China. Key Laboratory for Basic Life Science Research of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, China.Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, China. Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, China. Key Laboratory for Basic Life Science Research of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, China.Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, China. Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, China. Key Laboratory for Basic Life Science Research of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, China.Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, China. Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, China. Key Laboratory for Basic Life Science Research of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, China.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

31066235

Citation

He, Xue, et al. "Genetic Variants in the ITPR2 Gene Are Associated With Kashin-Beck Disease in Tibetan." Molecular Genetics & Genomic Medicine, vol. 7, no. 7, 2019, pp. e00715.
He X, Bai M, Liu M, et al. Genetic variants in the ITPR2 gene are associated with Kashin-Beck Disease in Tibetan. Mol Genet Genomic Med. 2019;7(7):e00715.
He, X., Bai, M., Liu, M., Wang, L., He, Y., Rong, H., Yuan, D., & Jin, T. (2019). Genetic variants in the ITPR2 gene are associated with Kashin-Beck Disease in Tibetan. Molecular Genetics & Genomic Medicine, 7(7), e00715. https://doi.org/10.1002/mgg3.715
He X, et al. Genetic Variants in the ITPR2 Gene Are Associated With Kashin-Beck Disease in Tibetan. Mol Genet Genomic Med. 2019;7(7):e00715. PubMed PMID: 31066235.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic variants in the ITPR2 gene are associated with Kashin-Beck Disease in Tibetan. AU - He,Xue, AU - Bai,Mei, AU - Liu,Ming, AU - Wang,Li, AU - He,Yongjun, AU - Rong,Hao, AU - Yuan,Dongya, AU - Jin,Tianbo, Y1 - 2019/05/07/ PY - 2018/11/19/received PY - 2019/03/22/revised PY - 2019/04/15/accepted PY - 2019/5/9/pubmed PY - 2020/6/12/medline PY - 2019/5/9/entrez KW - ITPR2 KW - Kashin-Beck Disease KW - Single-nucleotide polymorphisms KW - Tibetan KW - case-control study SP - e00715 EP - e00715 JF - Molecular genetics & genomic medicine JO - Mol Genet Genomic Med VL - 7 IS - 7 N2 - BACKGROUND: Kashin-Beck Disease (KBD) is a chronic, endemic osteoarthropathy. Inositol 1,4,5-triphosphate receptor type 2 (ITPR2) gene is involved in chondrocytes. We speculated that single-nucleotide polymorphisms (SNPs) in ITPR2 gene may have an association with KBD in Tibetan. METHODS: To prove this hypothesis, a total of eight SNPs (rs1049376, rs11048526, rs11048556, rs11048585, rs16931011, rs10842759, rs2230372, and rs7134213) were selected, and genotyped in 316 KBD patients and 320 controls. The association between ITPR2 variants and KBD risk was assessed by logistic regression analysis. RESULTS: The study identified significant association (p = 0.019) between KBD and a novel locus, ITPR2 SNP rs11048526 (OR = 1.49, 95% CI = 1.07-2.08). The variant A/G genotype frequency in rs11048526 had a significantly increased risk of KBD in co-dominant model (OR = 3.70, 95% CI = 1.26-10.89, p = 0.018), dominant model (OR = 3.56, 95% CI = 1.22-10.40, p = 0.020), log-additive model (OR = 3.00, 95% CI = 1.12-8.00, p = 0.029) after adjusted for age and gender. CONCLUSION: The results indicate a potential association between ITPR2 and KBD risk in Tibetan. Further work is required to confirm these results and explore the mechanisms of these effects. SN - 2324-9269 UR - https://www.unboundmedicine.com/medline/citation/31066235/Genetic_variants_in_the_ITPR2_gene_are_associated_with_Kashin_Beck_Disease_in_Tibetan_ L2 - https://doi.org/10.1002/mgg3.715 DB - PRIME DP - Unbound Medicine ER -