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评估TGIF作为近视候选基因的情况。

Assessment of TGIF as a candidate gene for myopia.

作者信息

Pertile Kelly K, Schäche Maria, Islam F M Amirul, Chen Christine Y, Dirani Mohamed, Mitchell Paul, Baird Paul N

机构信息

Centre for Eye Research Australia, Department of Ophthalmology University of Melbourne, 32 Gisborne Street, East Melbourne, Victoria, Australia.

出版信息

Invest Ophthalmol Vis Sci. 2008 Jan;49(1):49-54. doi: 10.1167/iovs.07-0896.

Abstract

PURPOSE

Transforming growth beta-induced factor (TGIF) has been identified as a candidate gene for high myopia through genetic linkage studies and through its role in ocular growth in animal studies. However, the association of single nucleotide polymorphisms (SNPs), based solely on myopia refraction, has so far been inconclusive. This is the first study conducted to investigate the association of TGIF with refraction and ocular biometric measurements.

METHODS

Twelve tag SNPs (tSNPs) encompassing the TGIF gene and 2 kb upstream of its promoter region were used to evaluate the association between TGIF variants with both ocular biometric measures and refraction. A total of 257 cases of myopia (spherical equivalent [SE] worse than -0.50 D) and 294 control subjects (no myopia) were genotyped. Genotype frequencies were analyzed by chi(2) test and one-way ANOVA.

RESULTS

Two tSNPs showed significant association with biometric measures, with the SNP rs8082866 being associated with both axial length (P = 0.013) and corneal curvature (P = 0.007) and the SNP rs2020436 being associated with corneal curvature (P = 0.022). However, these associations became nonsignificant after multiple testing (Bonferroni correction).

CONCLUSIONS

Findings of this study suggest that the TGIF gene is unlikely to play a major role in either ocular biometric measures or refraction in a Caucasian population. Future studies should focus on other genes in the MYP2 linkage region or other linked regions to identify myopia-causing genes.

摘要

目的

通过遗传连锁研究以及其在动物研究中对眼球生长的作用,转化生长β诱导因子(TGIF)已被确定为高度近视的候选基因。然而,仅基于近视屈光度的单核苷酸多态性(SNP)关联研究至今尚无定论。这是首次进行的研究,旨在探讨TGIF与屈光度及眼部生物测量之间的关联。

方法

使用涵盖TGIF基因及其启动子区域上游2 kb的12个标签SNP(tSNP)来评估TGIF变体与眼部生物测量和屈光度之间的关联。对总共257例近视患者(等效球镜度[SE]低于-0.50 D)和294名对照受试者(无近视)进行基因分型。通过卡方检验和单因素方差分析分析基因型频率。

结果

两个tSNP与生物测量显示出显著关联,SNP rs8082866与眼轴长度(P = 0.013)和角膜曲率(P = 0.007)均相关,SNP rs2020436与角膜曲率相关(P = 0.022)。然而,经过多重检验(Bonferroni校正)后,这些关联变得不显著。

结论

本研究结果表明,TGIF基因在白种人群体的眼部生物测量或屈光度中不太可能起主要作用。未来的研究应聚焦于MYP2连锁区域或其他连锁区域中的其他基因,以确定导致近视的基因。

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