CAJ | 학술논문

背景圆锥角膜是双侧、非炎性、角膜中央进行性变薄的疾病.研究圆锥角膜的相关致病基因对于明确该病的发病机制和建立基因早期诊断标准及治疗措施意义重大. 目的探讨视觉同源基因(VSX1)多态性与散发性圆锥角膜患病风险的关系.方法采用病例-对照研究方法.收集散发性圆锥角膜患者101例和健康志愿者80人,受试者均为汉族,所有患者经裂隙灯(Vogt条纹、Fleischer环、Munson症等)和角膜地形图检查确诊.运用MassARRAY单核苷酸多态性(SNP)分型技术对VSX1基因SNP进行检测,采用统一的调查问卷收集每个研究对象详细的人口学资料和相关危险因素暴露资料,用x2检验和二元Logistic回归模型分析比较圆锥角膜组和正常对照组间各位点等位基因频率及基因型频率分布的差异,并分析其与圆锥角膜患病风险的关系.结果中国汉族人群中仅发现rs743018(c.843+140 C＞T)和rs6138482(R217HC＞T)两个位点具有多态性,其余位点未见多态性.与正常对照组比较,圆锥角膜组中2个SNP位点基因型频率与等位基因频率差异均无统计学意义(P＞0.05).校正年龄、性别因素后,各SNP位点与圆锥角膜患病风险之间无显著相关性[隐性模型下:rs743018 (C＞T)校正P=0.35,OR =0.72,95％CI:0.37～1.43；rs6138482(C＞T)校正P=0.48,OR=0.76,95％CI:0.35 ～ 1.64]. 结论本研究发现中国汉族人群VSX1基因有2个SNP位点,但其多态性可能与圆锥角膜的患病无关.由于基因型和等位基因频率存在着种族差异性,VSX1基因在圆锥角膜发病机制中的作用仍存在争议,有待进一步研究证实.
배경 원추각막시쌍측、비염성、각막중앙진행성변박적질병.연구원추각막적상관치병기인대우명학해병적발병궤제화건립기인조기진단표준급치료조시의의중대. 목적 탐토시각동원기인(VSX1)다태성여산발성원추각막환병풍험적관계.방법 채용병례-대조연구방법.수집산발성원추각막환자101례화건강지원자80인,수시자균위한족,소유환자경렬극등(Vogt조문、Fleischer배、Munson증등)화각막지형도검사학진.운용MassARRAY단핵감산다태성(SNP)분형기술대VSX1기인SNP진행검측,채용통일적조사문권수집매개연구대상상세적인구학자료화상관위험인소폭로자료,용x2검험화이원Logistic회귀모형분석비교원추각막조화정상대조조간각위점등위기인빈솔급기인형빈솔분포적차이,병분석기여원추각막환병풍험적관계.결과 중국한족인군중부발현rs743018(c.843+140 C＞T)화rs6138482(R217HC＞T)량개위점구유다태성,기여위점미견다태성.여정상대조조비교,원추각막조중2개SNP위점기인형빈솔여등위기인빈솔차이균무통계학의의(P＞0.05).교정년령、성별인소후,각SNP위점여원추각막환병풍험지간무현저상관성[은성모형하:rs743018 (C＞T)교정P=0.35,OR =0.72,95％CI:0.37～1.43；rs6138482(C＞T)교정P=0.48,OR=0.76,95％CI:0.35 ～ 1.64]. 결론 본연구발현중국한족인군VSX1기인유2개SNP위점,단기다태성가능여원추각막적환병무관.유우기인형화등위기인빈솔존재착충족차이성,VSX1기인재원추각막발병궤제중적작용잉존재쟁의,유대진일보연구증실.
Background Keratoconus is a bilateral,noninflammatory,gradually progressive corneal disorder characterized by progressive thinning and steepening of the central cornea.It is significant to investigate keratoconusrelated pathogenic gene for elaborating the pathogenesis and establishing early diagnosis standard and taking clinical measurement.Objective The aim of the study was to explore the relationship of visual system homeobox gene (VSX1) polymorphism and the risk of sporadic keratoconus.Methods This study was approved by Ethic Commission of First Hospital of Xi' an.Written informed consent was obtained from each subject prior to enrollment.A case-controlled study was conducted.One hundred and one Han nationality patients with sporadic keratoconus were included in this study.These keratoconus patients were clinically diagnosed by slit lamp examination and corneal tomography.Single nucleolide polymorphism (SNP) of VSX1 gene was assayed and classified using the MassARRAY SNP technique.Demography and relevant risk factors were collected from each subject by questionnaire.Eighty healthy volunteers served as controls.Chi-square test and Binary logistic regression were used to evaluate the difference in the distribution of allele frequency and genotype frequency and to analyze the association with keratoconus risks.Results SNP of two genes was found in the Chinese Han population (rs743018 (c.843+140 C＞T) and rs6138482(R217H C＞T)).There were no significant differences in the genotype frequency and allele frequency of the SNP of two genes in the keratoconus group in comparison with the normal control group (P＞0.05).After adjustment by age and sex,SNP of two genes was not significantly associated with the risk of keratoconus (regression model:rs743018 (C＞T) adjusted:P=0.35,OR=0.72,95％ CI:0.37-1.43 ;rs6138482 (C＞T) adjusted:P =0.48,OR=0.76,95％ CI:0.35-1.64).Conclusions Gene polymorphisms of rs743018(c.843+140 C＞T) and rs6138482(R217H C＞T) in the Chinese Han population is not associated with the risk of keratoconus.Due to the racial difference in genotype and allele frequency,the role of the VSX1 gene in the pathogenesis of keratoconus still remains controversial,and further study needs to be developed.