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Polymorphism in rs2229783 of the Alpha 1(XI) Collagen Gene Is Associated with Susceptibility to but not Severity of Kashin-Beck Disease in a Northwest Chinese Han Population.
Biomed Environ Sci. 2018 Apr; 31(4):322-326.BE

Abstract

A case-control study was conducted to investigate associations between organophosphate pesticide (OP) exposure, aggression, impulsivity, and attempted suicide. The purpose of this study was to explore whether genomic polymorphisms in the alpha 1(XI) collagen gene (COL11A1) were associated with the risk and severity of Kashin-Beck disease (KBD). Twenty-two single nucleotide polymorphisms (SNPs) in COL11A1 were genotyped in 274 KBD cases and 249 healthy controls using the Sequenom MassARRAY system. The expression of type XI collagen (COL11A) in the knee articular cartilage of 22 KBD patients and 21 controls was analyzed by immunohistochemistry. Our results showed that the frequency distribution of genotypes of the rs2229783 polymorphism in COL11A1 was significantly different between the KBD and control groups (P = 0.0003). Moreover, the expression level of COL11A in cartilage was significantly lower in the KBD group than in the controls (t = 2.637, P = 0.02). However, no association was found between the rs2229783 and the severity of KBD, suggesting a role of COL11A1 in the susceptibility to but not the severity of KBD.

Authors+Show Affiliations

Department of Pediatrics, The First Affiliated Hospital of Medical Collage of Xi'an Jiaotong University, Xi'an 710061, Shaanxi, China.School of Public Health, Health Science Center, Xi'an Jiaotong University, Key Laboratory of Environment and Gene Related Diseases of Ministry of Education, Key Laboratory of Trace Elements and Endemic Diseases of Ministry of Health, Xi'an 710061, Shaanxi, China.Department of Emergency, The First Affiliated Hospital of Medical Collage of Xi'an Jiaotong University, Xi'an 710061, Shaanxi, China.School of Public Health, Health Science Center, Xi'an Jiaotong University, Key Laboratory of Environment and Gene Related Diseases of Ministry of Education, Key Laboratory of Trace Elements and Endemic Diseases of Ministry of Health, Xi'an 710061, Shaanxi, China.School of Public Health, Health Science Center, Xi'an Jiaotong University, Key Laboratory of Environment and Gene Related Diseases of Ministry of Education, Key Laboratory of Trace Elements and Endemic Diseases of Ministry of Health, Xi'an 710061, Shaanxi, China.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

29773097

Citation

Shi, Xiao Wei, et al. "Polymorphism in Rs2229783 of the Alpha 1(XI) Collagen Gene Is Associated With Susceptibility to but Not Severity of Kashin-Beck Disease in a Northwest Chinese Han Population." Biomedical and Environmental Sciences : BES, vol. 31, no. 4, 2018, pp. 322-326.
Shi XW, Zhang F, Li ZY, et al. Polymorphism in rs2229783 of the Alpha 1(XI) Collagen Gene Is Associated with Susceptibility to but not Severity of Kashin-Beck Disease in a Northwest Chinese Han Population. Biomed Environ Sci. 2018;31(4):322-326.
Shi, X. W., Zhang, F., Li, Z. Y., Lyu, A. L., & Guo, X. (2018). Polymorphism in rs2229783 of the Alpha 1(XI) Collagen Gene Is Associated with Susceptibility to but not Severity of Kashin-Beck Disease in a Northwest Chinese Han Population. Biomedical and Environmental Sciences : BES, 31(4), 322-326. https://doi.org/10.3967/bes2018.042
Shi XW, et al. Polymorphism in Rs2229783 of the Alpha 1(XI) Collagen Gene Is Associated With Susceptibility to but Not Severity of Kashin-Beck Disease in a Northwest Chinese Han Population. Biomed Environ Sci. 2018;31(4):322-326. PubMed PMID: 29773097.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Polymorphism in rs2229783 of the Alpha 1(XI) Collagen Gene Is Associated with Susceptibility to but not Severity of Kashin-Beck Disease in a Northwest Chinese Han Population. AU - Shi,Xiao Wei, AU - Zhang,Feng, AU - Li,Zhi Yan, AU - Lyu,Ai Li, AU - Guo,Xiong, PY - 2017/02/21/received PY - 2018/03/05/accepted PY - 2018/5/19/entrez PY - 2018/5/19/pubmed PY - 2018/8/10/medline SP - 322 EP - 326 JF - Biomedical and environmental sciences : BES JO - Biomed. Environ. Sci. VL - 31 IS - 4 N2 - A case-control study was conducted to investigate associations between organophosphate pesticide (OP) exposure, aggression, impulsivity, and attempted suicide. The purpose of this study was to explore whether genomic polymorphisms in the alpha 1(XI) collagen gene (COL11A1) were associated with the risk and severity of Kashin-Beck disease (KBD). Twenty-two single nucleotide polymorphisms (SNPs) in COL11A1 were genotyped in 274 KBD cases and 249 healthy controls using the Sequenom MassARRAY system. The expression of type XI collagen (COL11A) in the knee articular cartilage of 22 KBD patients and 21 controls was analyzed by immunohistochemistry. Our results showed that the frequency distribution of genotypes of the rs2229783 polymorphism in COL11A1 was significantly different between the KBD and control groups (P = 0.0003). Moreover, the expression level of COL11A in cartilage was significantly lower in the KBD group than in the controls (t = 2.637, P = 0.02). However, no association was found between the rs2229783 and the severity of KBD, suggesting a role of COL11A1 in the susceptibility to but not the severity of KBD. SN - 0895-3988 UR - https://www.unboundmedicine.com/medline/citation/29773097/Polymorphism_in_rs2229783_of_the_Alpha_1_XI__Collagen_Gene_Is_Associated_with_Susceptibility_to_but_not_Severity_of_Kashin_Beck_Disease_in_a_Northwest_Chinese_Han_Population_ L2 - https://doi.org/10.3967/bes2018.042 DB - PRIME DP - Unbound Medicine ER -