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Association study of polymorphisms in selenoprotein genes and Kashin-Beck disease and serum selenium/iodine concentration in a Tibetan population.
PLoS One. 2013; 8(8):e71411.Plos

Abstract

BACKGROUND

Kashin-Beck disease is a kind of degenerative osteoarthropathy. Genetic factors may play an important role in the pathogenesis of KBD.

OBJECTIVE

To investigate the association of the selenoprotein genes GPX1 (rs1050450, rs1800668, and rs3811699), TrxR2 (rs5748469), and DIO2 (rs225014) with Kashin-Beck disease (KBD) in a Tibetan population and to investigate the association of these SNPs with the serum iodine/selenium concentration in the Tibetan population.

DESIGN

Five SNPs including rs1050450, rs1800668, and rs3811699 in the GPX1 gene, rs5748469 in the TrxR2 gene, and rs225014 in the DIO2 gene were analyzed in Tibetan KBD patients and controls using the SNaPshot method. P trend values of the SNPs were calculated using an additive model.

RESULTS

None of the five SNPs in the three genes showed a significant association with KBD. Haplotypes TCC, TTC and TTT of rs1050450, rs1800668 and rs3811699 in GPX1 showed a significant association with KBD and controls with P value of 0.0421, 5.0E-4 and 0.0066, respectively. The GPX1 gene (rs1050450) showed a potential significant association with the iodine concentration in the Tibetan study population (P = 0.02726). However, no such association was detected with the selenium concentration (P = 0.2849).

CONCLUSIONS

In this study, we showed that single SNPs in the genes GPX1 (rs1050450, rs1800668 and rs3811699), TrxR2 (rs5748469), and DIO2 (rs225014) may not be significantly associated with KBD in a Tibetan population. However, haplotype analysis of SNPs rs1050450, rs1800668 and rs3811699 in GPX1 gene showed a significant association with KBD. The results suggested that GPX1 gene play a protective role in the susceptivity of KBD in Tibetans. Furthermore, the GPX1 gene (rs1050450) may be significantly associated with the serum iodine concentration in Tibetans.

Authors+Show Affiliations

Center for Human Molecular Biology & Genetics, The Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China ; Sichuan Translational Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

24058403

Citation

Huang, Lulin, et al. "Association Study of Polymorphisms in Selenoprotein Genes and Kashin-Beck Disease and Serum Selenium/iodine Concentration in a Tibetan Population." PloS One, vol. 8, no. 8, 2013, pp. e71411.
Huang L, Shi Y, Lu F, et al. Association study of polymorphisms in selenoprotein genes and Kashin-Beck disease and serum selenium/iodine concentration in a Tibetan population. PLoS ONE. 2013;8(8):e71411.
Huang, L., Shi, Y., Lu, F., Zheng, H., Liu, X., Gong, B., Yang, J., Lin, Y., Cheng, J., Ma, S., Lin, H., & Yang, Z. (2013). Association study of polymorphisms in selenoprotein genes and Kashin-Beck disease and serum selenium/iodine concentration in a Tibetan population. PloS One, 8(8), e71411. https://doi.org/10.1371/journal.pone.0071411
Huang L, et al. Association Study of Polymorphisms in Selenoprotein Genes and Kashin-Beck Disease and Serum Selenium/iodine Concentration in a Tibetan Population. PLoS ONE. 2013;8(8):e71411. PubMed PMID: 24058403.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Association study of polymorphisms in selenoprotein genes and Kashin-Beck disease and serum selenium/iodine concentration in a Tibetan population. AU - Huang,Lulin, AU - Shi,Yi, AU - Lu,Fang, AU - Zheng,Hong, AU - Liu,Xiaoqi, AU - Gong,Bo, AU - Yang,Jiyun, AU - Lin,Ying, AU - Cheng,Jing, AU - Ma,Shi, AU - Lin,He, AU - Yang,Zhenglin, Y1 - 2013/08/23/ PY - 2013/05/01/received PY - 2013/06/28/accepted PY - 2013/9/24/entrez PY - 2013/9/24/pubmed PY - 2014/6/27/medline SP - e71411 EP - e71411 JF - PloS one JO - PLoS ONE VL - 8 IS - 8 N2 - BACKGROUND: Kashin-Beck disease is a kind of degenerative osteoarthropathy. Genetic factors may play an important role in the pathogenesis of KBD. OBJECTIVE: To investigate the association of the selenoprotein genes GPX1 (rs1050450, rs1800668, and rs3811699), TrxR2 (rs5748469), and DIO2 (rs225014) with Kashin-Beck disease (KBD) in a Tibetan population and to investigate the association of these SNPs with the serum iodine/selenium concentration in the Tibetan population. DESIGN: Five SNPs including rs1050450, rs1800668, and rs3811699 in the GPX1 gene, rs5748469 in the TrxR2 gene, and rs225014 in the DIO2 gene were analyzed in Tibetan KBD patients and controls using the SNaPshot method. P trend values of the SNPs were calculated using an additive model. RESULTS: None of the five SNPs in the three genes showed a significant association with KBD. Haplotypes TCC, TTC and TTT of rs1050450, rs1800668 and rs3811699 in GPX1 showed a significant association with KBD and controls with P value of 0.0421, 5.0E-4 and 0.0066, respectively. The GPX1 gene (rs1050450) showed a potential significant association with the iodine concentration in the Tibetan study population (P = 0.02726). However, no such association was detected with the selenium concentration (P = 0.2849). CONCLUSIONS: In this study, we showed that single SNPs in the genes GPX1 (rs1050450, rs1800668 and rs3811699), TrxR2 (rs5748469), and DIO2 (rs225014) may not be significantly associated with KBD in a Tibetan population. However, haplotype analysis of SNPs rs1050450, rs1800668 and rs3811699 in GPX1 gene showed a significant association with KBD. The results suggested that GPX1 gene play a protective role in the susceptivity of KBD in Tibetans. Furthermore, the GPX1 gene (rs1050450) may be significantly associated with the serum iodine concentration in Tibetans. SN - 1932-6203 UR - https://www.unboundmedicine.com/medline/citation/24058403/Association_study_of_polymorphisms_in_selenoprotein_genes_and_Kashin_Beck_disease_and_serum_selenium/iodine_concentration_in_a_Tibetan_population_ L2 - http://dx.plos.org/10.1371/journal.pone.0071411 DB - PRIME DP - Unbound Medicine ER -