{"title":"The Association of HIF-1α/rs2057482 Polymorphism with Idiopathic Scleritis in a Chinese Han Population.","authors":"Jing Shi,Qingfeng Cao,Changwei Huang,Xiang Luo","doi":"10.1080/09273948.2024.2395290","DOIUrl":null,"url":null,"abstract":"BACKGROUND\r\nTo investigate the association of hypoxia-inducible factor-1α (HIF-1α), Janus tyrosine kinase-signal transducer and activator of transcription (JAK-STAT) gene polymorphisms with idiopathic scleritis in a Chinese Han population.\r\n\r\nMETHODS\r\nTen single nucleotide polymorphisms (SNP) of HIF-1α, tyrosine kinase 2 (TYK2), signal transducer and activator of transcription 3 (STAT3), signal transducer and activator of transcription 4 (STAT4), and retinoid-related orphan nuclear receptors-γ (ROR-γ) were selected for this study. A total of 496 idiopathic scleritis patients and 1009 controls were genotyped by the MassARRAY platform and iPLEX Gold Genotyping Assay. The allele and genotype frequencies were analyzed by Chi-square test and Fisher's exact test. Stratified analyses were performed based on gender and anatomic locations of idiopathic scleritis.\r\n\r\nRESULTS\r\nThe frequencies of CC genotype (p = 6.18 × 10-4, Pc = 0.04, OR = 0.67,95%CI = 0.53-0.84) and C allele (p = 7.08 × 10-4, Pc = 0.04, OR = 0.71,95%CI = 0.58-0.87) for HIF-1α/rs2057482 were found significantly lower in idiopathic scleritis patients when compared to healthy controls. Stratified analysis depending on gender showed significant decreased frequencies of CC genotype (CC: p = 4.04 × 10-4, Pc = 0.02, OR = 0.54, 95%CI = 0.39-0.76) and C allele (C: p = 1.62 × 10-4, Pc = 0.01, OR = 0.58, 95%CI = 0.44-0.77) in male patients. Stratification analysis of rs2057482 according to location of scleritis did not show any significant difference between three subgroups and healthy controls.\r\n\r\nCONCLUSION\r\nThis study showed association between polymorphism of HIF-1α/rs2057482 and susceptibility to idiopathic scleritis in Han Chinese male patients.","PeriodicalId":19406,"journal":{"name":"Ocular Immunology and Inflammation","volume":null,"pages":null},"PeriodicalIF":2.6000,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Ocular Immunology and Inflammation","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/09273948.2024.2395290","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
BACKGROUND
To investigate the association of hypoxia-inducible factor-1α (HIF-1α), Janus tyrosine kinase-signal transducer and activator of transcription (JAK-STAT) gene polymorphisms with idiopathic scleritis in a Chinese Han population.
METHODS
Ten single nucleotide polymorphisms (SNP) of HIF-1α, tyrosine kinase 2 (TYK2), signal transducer and activator of transcription 3 (STAT3), signal transducer and activator of transcription 4 (STAT4), and retinoid-related orphan nuclear receptors-γ (ROR-γ) were selected for this study. A total of 496 idiopathic scleritis patients and 1009 controls were genotyped by the MassARRAY platform and iPLEX Gold Genotyping Assay. The allele and genotype frequencies were analyzed by Chi-square test and Fisher's exact test. Stratified analyses were performed based on gender and anatomic locations of idiopathic scleritis.
RESULTS
The frequencies of CC genotype (p = 6.18 × 10-4, Pc = 0.04, OR = 0.67,95%CI = 0.53-0.84) and C allele (p = 7.08 × 10-4, Pc = 0.04, OR = 0.71,95%CI = 0.58-0.87) for HIF-1α/rs2057482 were found significantly lower in idiopathic scleritis patients when compared to healthy controls. Stratified analysis depending on gender showed significant decreased frequencies of CC genotype (CC: p = 4.04 × 10-4, Pc = 0.02, OR = 0.54, 95%CI = 0.39-0.76) and C allele (C: p = 1.62 × 10-4, Pc = 0.01, OR = 0.58, 95%CI = 0.44-0.77) in male patients. Stratification analysis of rs2057482 according to location of scleritis did not show any significant difference between three subgroups and healthy controls.
CONCLUSION
This study showed association between polymorphism of HIF-1α/rs2057482 and susceptibility to idiopathic scleritis in Han Chinese male patients.
期刊介绍:
Ocular Immunology & Inflammation ranks 18 out of 59 in the Ophthalmology Category.Ocular Immunology and Inflammation is a peer-reviewed, scientific publication that welcomes the submission of original, previously unpublished manuscripts directed to ophthalmologists and vision scientists. Published bimonthly, the journal provides an international medium for basic and clinical research reports on the ocular inflammatory response and its control by the immune system. The journal publishes original research papers, case reports, reviews, letters to the editor, meeting abstracts, and invited editorials.