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
Lucio phenomenon is an atypical reaction of leprosy, characterized by vasculitic lesions that can mimic antiphospholipid syndrome (APS) clinically. Distinguishing the two can be difficult as antiphospholipid autoantibodies may be present in patients with leprosy. We report on a 32‐year‐old female patient presenting with a sudden onset of fever, hemorrhagic bullae, and skin necrosis on her lower legs. She was treated for APS due to the presence of antiphospholipid antibodies but had an inadequate response. A skin biopsy revealed thrombotic vasculopathy and necrotizing vasculitis associated with aggregation of foam cells in the perivascular area and subcutis, with acid‐fast bacilli in the histiocytes and blood vessel walls. Direct immunofluorescence showed IgM, C3, and fibrinogen deposition in the superficial and deep dermal blood vessels. The pathology confirmed the diagnosis of Lucio phenomenon, and appropriate therapy was given. It is essential to evaluate the patient comprehensively, including clinical, serological, and pathological aspects, to obtain the correct diagnosis. 相似文献
目的系统评价自然周期和促排卵周期联合宫腔内人工授精(intrauterine insemination,IUI)对不孕患者治疗的有效性,旨在更合理有效的指导临床治疗。方法计算机检索2000年1月至2013年6月中国生物医学文献数据库(CBMDisc)、万方数据库、中国学术期刊网专题全文数据库(CNKI)、维普数据库、Pubmed、外文生物医学期刊文献数据(FMJS)中自然周期和促排卵周期联合IUI治疗不孕患者的随机对照试验(RCT)或临床对照试验。由2位评价员根据纳入与排除标准独立进行文献筛选、资料提取和质量评价后,采用Rev Man 5.0软件进行Meta分析。结果最终纳入9个研究,共8814个周期。Meta分析结果显示:对行IUI的不孕症患者,促排卵周期组与自然周期组相比,妊娠率[OR=1.47,95%CI(1.26,1.72),P0.00001]、流产率[OR=2.49,95%CI(1.49,4.16),P=0.0005]、多胎率[OR=6.94,95%CI(1.94,24.83),P=0.003]均大于自然周期组,且差异有统计学意义;OHSS发生率[OR=4.17,95%CI(0.74,23.49),P=0.11]和宫外孕发生率[OR=2.22,95%CI(0.92,5.37),P=0.08]无明显差异。结论对自然周期和促排卵周期联合IUI治疗不孕患者的有效性而言,促排卵周期组能更好的改善其妊娠率,但其流产率和多胎率的发生较高,因此促排卵方案用于IUI时,其疗效及安全性需要进行更多的临床研究。由于纳入文献存在质量和数量不足以及方法学差异,本研究结论仅作为临床分析的参考,尚需后效评价和不断更新。 相似文献