Sahebjada Srujana, Schache Maria, Richardson Andrea J, Snibson Grant, Daniell Mark, Baird Paul N
Centre for Eye Research Australia, Melbourne, Australia ; The University of Melbourne, Melbourne, Australia.
Centre for Eye Research Australia, Melbourne, Australia.
PLoS One. 2014 Jan 8;9(1):e84067. doi: 10.1371/journal.pone.0084067. eCollection 2014.
A previous study has indicated suggestive association of the hepatocyte growth factor (HGF) gene with Keratoconus. We wished to assess this association in an independent Caucasian cohort as well as assess its association with corneal curvature.
Keratoconus patients were recruited from private and public clinics in Melbourne, Australia. Non-keratoconic individuals were identified from the Genes in Myopia (GEM) study from Australia. A total of 830 individuals were used for the analysis including 157 keratoconic and 673 non keratoconic subjects.
Tag single nucleotide polymorphisms (tSNPs) were chosen to encompass the hepatocyte growth factor gene as well as 2 kb upstream of the start codon through to 2 kb downstream of the stop codon. Logistic and linear regression including age and gender as covariates were applied in statistical analysis with subsequent Bonferroni correction.
Ten tSNPs were genotyped. Following statistical analysis and multiple testing correction, a statistically significant association was found for the tSNP rs2286194 {p = 1.1×10-(3) Odds Ratio 0.52, 95% CI--0.35, 0.77} for keratoconus. No association was found between the 10 tSNPs and corneal curvature.
These findings provide additional evidence of significant association of the HGF gene with Keratoconus. This association does not appear to act through the corneal curvature route.
先前的一项研究表明肝细胞生长因子（HGF）基因与圆锥角膜之间存在提示性关联。我们希望在一个独立的白种人队列中评估这种关联，并评估其与角膜曲率的关系。
圆锥角膜患者从澳大利亚墨尔本的私立和公立诊所招募。非圆锥角膜个体从澳大利亚的近视基因（GEM）研究中确定。共有830人用于分析，包括157名圆锥角膜患者和673名非圆锥角膜受试者。
选择标签单核苷酸多态性（tSNP）以涵盖肝细胞生长因子基因以及起始密码子上游2 kb至终止密码子下游2 kb。在统计分析中应用包括年龄和性别作为协变量的逻辑回归和线性回归，随后进行Bonferroni校正。
对10个tSNP进行了基因分型。经过统计分析和多重检验校正后，发现tSNP rs2286194与圆锥角膜存在统计学显著关联{p = 1.1×10 - (3)，优势比0.52，95%置信区间 - -0.35，0.77}。在10个tSNP与角膜曲率之间未发现关联。
这些发现为HGF基因与圆锥角膜的显著关联提供了额外证据。这种关联似乎不是通过角膜曲率途径起作用。
