{"title":"toll样受体4 (TLR4)基因4个单核苷酸多态性(SNP)变异与云南大理白族男性痛风的相关性分析","authors":"Wenbing Huang, Ximin Tang, Yongqin Yang, Jintao He, Dan Zhao, Jinsong Li, Yaru Lin, Zhengliang Li, Jiangyan Li, Wei Xiong","doi":"10.1089/gtmb.2024.0518","DOIUrl":null,"url":null,"abstract":"<p><p><b><i>Background:</i></b> Gout is the most common arthritis, and it is associated with monosodium urate (MSU) crystal deposits in articulations, kidney, and soft tissue. The MSU crystal deposit initiates an inflammatory response, mediated by <i>NLRP3</i> inflammasome, with the release of interleukin-1beta. Toll-like receptor 4 (<i>TLR4</i>) is involved in this response. The association of <i>TLR4</i> single nucleotide polymorphisms (SNPs) and gout risk is controversial, with different results according to different populations. In the present study, we aimed to investigate the association between <i>TLR4</i> gene rs2770150, rs4986790, rs4986791, and rs7873784 SNPs and hyperuricemia (HUA) and primary gout in males of Bai minority in Dali Prefecture, Yunnan Province, Southwest China. <b><i>Methods:</i></b> In total, 600 male patients with primary gout and 720 male patients with HUA of Bai minority were collected from the First Affiliated Hospital of Dali University and the Affiliated Hospital of Traditional Chinese Medicine of Dali University from 2022 to 2024. Nine hundred and eighty-eight men of Bai minority (without HUA and primary gout) received the health examination in the physical examination center of the hospital during the same period were recruited in the healthy control group. The four SNPs of rs2770150, rs4986790, rs4986791, and rs7873784 in <i>TLR4</i> receptor were compared among the three groups. <b><i>Results:</i></b> There were no statistically significant differences in the genotype and allele frequency of rs4986790, rs4986791, and rs7873784 among the three groups (all <i>p</i> > 0.05). The difference in distribution of rs2770150 was statistically significant between HUA group and gout group (<i>p</i> < 0.05). There were 714 cases (99.2%) of AA type and 6 cases (0.8%) of GA type in HUA group, while there were 580 cases (96.7%) of AA type and 20 cases (3.3%) of GA type in primary gout group. <b><i>Conclusion:</i></b> Our study demonstrated that patients with HUA with <i>TLR4</i> gene rs2770150 carrying GA type may be more likely to develop gout in males of Bai minority from Dali Prefecture of Yunnan Province, Southwest China.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":""},"PeriodicalIF":1.1000,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Association Analysis of Four Single Nucleotide Polymorpism(SNP) Variants of the Toll-Like Receptor 4 (TLR4) Gene and Gout in Males of Bai Minority from Dali Prefecture, Yunnan Province, Southwest China.\",\"authors\":\"Wenbing Huang, Ximin Tang, Yongqin Yang, Jintao He, Dan Zhao, Jinsong Li, Yaru Lin, Zhengliang Li, Jiangyan Li, Wei Xiong\",\"doi\":\"10.1089/gtmb.2024.0518\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p><b><i>Background:</i></b> Gout is the most common arthritis, and it is associated with monosodium urate (MSU) crystal deposits in articulations, kidney, and soft tissue. The MSU crystal deposit initiates an inflammatory response, mediated by <i>NLRP3</i> inflammasome, with the release of interleukin-1beta. Toll-like receptor 4 (<i>TLR4</i>) is involved in this response. The association of <i>TLR4</i> single nucleotide polymorphisms (SNPs) and gout risk is controversial, with different results according to different populations. In the present study, we aimed to investigate the association between <i>TLR4</i> gene rs2770150, rs4986790, rs4986791, and rs7873784 SNPs and hyperuricemia (HUA) and primary gout in males of Bai minority in Dali Prefecture, Yunnan Province, Southwest China. <b><i>Methods:</i></b> In total, 600 male patients with primary gout and 720 male patients with HUA of Bai minority were collected from the First Affiliated Hospital of Dali University and the Affiliated Hospital of Traditional Chinese Medicine of Dali University from 2022 to 2024. Nine hundred and eighty-eight men of Bai minority (without HUA and primary gout) received the health examination in the physical examination center of the hospital during the same period were recruited in the healthy control group. The four SNPs of rs2770150, rs4986790, rs4986791, and rs7873784 in <i>TLR4</i> receptor were compared among the three groups. <b><i>Results:</i></b> There were no statistically significant differences in the genotype and allele frequency of rs4986790, rs4986791, and rs7873784 among the three groups (all <i>p</i> > 0.05). The difference in distribution of rs2770150 was statistically significant between HUA group and gout group (<i>p</i> < 0.05). There were 714 cases (99.2%) of AA type and 6 cases (0.8%) of GA type in HUA group, while there were 580 cases (96.7%) of AA type and 20 cases (3.3%) of GA type in primary gout group. <b><i>Conclusion:</i></b> Our study demonstrated that patients with HUA with <i>TLR4</i> gene rs2770150 carrying GA type may be more likely to develop gout in males of Bai minority from Dali Prefecture of Yunnan Province, Southwest China.</p>\",\"PeriodicalId\":12603,\"journal\":{\"name\":\"Genetic testing and molecular biomarkers\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":1.1000,\"publicationDate\":\"2025-07-09\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Genetic testing and molecular biomarkers\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.1089/gtmb.2024.0518\",\"RegionNum\":4,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genetic testing and molecular biomarkers","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1089/gtmb.2024.0518","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Association Analysis of Four Single Nucleotide Polymorpism(SNP) Variants of the Toll-Like Receptor 4 (TLR4) Gene and Gout in Males of Bai Minority from Dali Prefecture, Yunnan Province, Southwest China.
Background: Gout is the most common arthritis, and it is associated with monosodium urate (MSU) crystal deposits in articulations, kidney, and soft tissue. The MSU crystal deposit initiates an inflammatory response, mediated by NLRP3 inflammasome, with the release of interleukin-1beta. Toll-like receptor 4 (TLR4) is involved in this response. The association of TLR4 single nucleotide polymorphisms (SNPs) and gout risk is controversial, with different results according to different populations. In the present study, we aimed to investigate the association between TLR4 gene rs2770150, rs4986790, rs4986791, and rs7873784 SNPs and hyperuricemia (HUA) and primary gout in males of Bai minority in Dali Prefecture, Yunnan Province, Southwest China. Methods: In total, 600 male patients with primary gout and 720 male patients with HUA of Bai minority were collected from the First Affiliated Hospital of Dali University and the Affiliated Hospital of Traditional Chinese Medicine of Dali University from 2022 to 2024. Nine hundred and eighty-eight men of Bai minority (without HUA and primary gout) received the health examination in the physical examination center of the hospital during the same period were recruited in the healthy control group. The four SNPs of rs2770150, rs4986790, rs4986791, and rs7873784 in TLR4 receptor were compared among the three groups. Results: There were no statistically significant differences in the genotype and allele frequency of rs4986790, rs4986791, and rs7873784 among the three groups (all p > 0.05). The difference in distribution of rs2770150 was statistically significant between HUA group and gout group (p < 0.05). There were 714 cases (99.2%) of AA type and 6 cases (0.8%) of GA type in HUA group, while there were 580 cases (96.7%) of AA type and 20 cases (3.3%) of GA type in primary gout group. Conclusion: Our study demonstrated that patients with HUA with TLR4 gene rs2770150 carrying GA type may be more likely to develop gout in males of Bai minority from Dali Prefecture of Yunnan Province, Southwest China.
期刊介绍:
Genetic Testing and Molecular Biomarkers is the leading peer-reviewed journal covering all aspects of human genetic testing including molecular biomarkers. The Journal provides a forum for the development of new technology; the application of testing to decision making in an increasingly varied set of clinical situations; ethical, legal, social, and economic aspects of genetic testing; and issues concerning effective genetic counseling. This is the definitive resource for researchers, clinicians, and scientists who develop, perform, and interpret genetic tests and their results.
Genetic Testing and Molecular Biomarkers coverage includes:
-Diagnosis across the life span-
Risk assessment-
Carrier detection in individuals, couples, and populations-
Novel methods and new instrumentation for genetic testing-
Results of molecular, biochemical, and cytogenetic testing-
Genetic counseling