Background: Previous genome-wide association study (GWAS) has revealed the association between MYP10 at 8p23 and MYP15 at 10q21.1 and high myopia (HM) in a French population. This study is managed to discover the connection between some single nucleotide polymorphism (located at MYP10 and MYP15) and Han Chinese HM.
Methods and Results: This case-control association study contained 1673 samples, including 869 ophthalmic patients and 804 controls. Twelve tag SNPs have been selected from the MYP10 and MYP15 loci and genotyped by SNaPshot method. Among 12 SNPs, rs4840437 and rs6989782 in TNKS gene were found significant association with HM. Carriers of rs4840437G allele and rs4840437GG genotype created a low risk of high myopia (P = .036, OR = 0.81, 95%CI = 0.71–0.93; P = .016, OR = 0.73, 95%CI = 0.56–0.96; respectively). Carriers of rs6989782T allele and rs6989782TT+CT genotype also had a decreased risk of high myopia (P = .048, OR = 0.82, 95%CI = 0.71–0.94; P = .006, OR = 0.74, 95%CI = 0.59–0.92; respectively). Other 10 SNPs displaced nonsignificant association with HM. Additionally, the risk haplotype AC and the protective haplotype GT, generated by two SNPs in TNKS, were considerably more likely to be association with HM (for AC, P = .002 and OR = 1.26; for GT, P = .027 and OR = 0.84).
Conclusions: Our results demonstrated that some heritable variants in the TNKS gene are associated with HM in the Han population. The possible functions of TNKS in the development and pathogenesis of hereditary high myopia still require further researches to identify. 相似文献
ObjectivesLaryngeal cancer is a common malignant tumor that originates from the larynx, yet its molecular mechanisms have not been thoroughly explored. The purpose of this study was to identify and evaluate immune-related genes in laryngeal cancer through gene co-expression networks, which may serve as biomarkers for its immunotherapy.MethodsWe applied ESTIMATE to evaluate the immune-infiltration landscape of tumor microenvironment. The co-expression networks were constructed by weighted gene co expression network analysis (WGCNA) and compared with the existing human immune related genes (IRGs) to determine the co-expressed IRGs. GSVA combined with CIBERSORT and ssGSEA illustrated the correlation of hub genes and immune infiltration patterns. TIDE algorithm and Subclass mapping evaluated the function of hub genes in predicting immune function and immunotherapeutic sensitivity. The pRRophetic was employed in the sensitivity prediction of chemotherapeutic drugs.ResultsA total of 23 co-expressed IRGs were identified and showed robust expression characteristics. These genes were significantly related to immune infiltration patterns, immune function and sensitivity prediction of immunotherapy and chemotherapeutic drugs for laryngeal cancer patients. Genetic alteration in somatic mutation level and related pathways were also revealed.ConclusionThe 23 co-expressed IRGs may act as immunotherapeutic biomarkers and potential therapeutic targets for laryngeal cancer with certain expression robustness. The molecular mechanisms deserve further investigation, which will guide clinical treatment in the future. 相似文献
There is increasing evidence that human papillomavirus (HPV) infection affects reproductive health and fertility, although its impact on female fertility has not been thoroughly studied. MEDLINE, Embase, CENTRAL, Web of Science, CNKI, Wanfang, VIP and ClinicalTrials.gov databases were systematically searched for relevant articles. A meta-analysis was conducted of 11 studies including 15,450 female subjects that compared HPV prevalence between the infertile and general population, and evaluated the association between HPV positivity and female infertility. Seven case–control studies on 3581 participants reported indiscriminate genotype infections (high-risk/low-risk [HR/LR]-HPV), but the random effects model revealed no association between HPV infection and female infertility (odds ratio [OR] 2.13, 95% confidence interval [CI] 0.97–4.65, P = 0.06). Six studies with a total of 11,869 participants reported HR-HPV infections alone, and the pooled data showed a significant association between HR-HPV infection and female infertility (OR 2.33, 95% CI 1.42–3.83, P = 0.0008). It was concluded that HR-HPV infection is a potential risk factor of female infertility, but not an independent cause. Further prospective studies are needed to assess the exact role of HPV in female infertility. 相似文献