Role of the Hepatocyte Growth Factor Gene in Refractive Error

Veerappan, S.; Pertile, Kelly K.; Islam, Amirul; Schäche, Maria; Chen, Christine Y.; Mitchell, Paul; Dirani, Mohamed; Baird, Paul N.

doi:10.1016/j.ophtha.2009.07.002

Cited by 40 publications

(37 citation statements)

References 37 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Positive associations have been reported for variants in genes known to be involved in extracellular-matrix (ECM) growth and remodeling pathways. These include genes that code for a variety of extracellular constituents including: collagens (COL2A1 (117, 118), COL1A1 (118)); transforming growth factors (TGFB1 (135), TGFB2 (136), TGIF1 (137)); the hepatocyte growth factor (HGF(138–140)) and its receptor (CMET(141)); insulin-like growth factor (IGF1 (142, 143)); matrix metalloproteinases (144, 145) (MMP1, MMP2, MMP3 and MMP9); and the proteoglycan lumican (LUM(146–148)). Figure 3 shows a first-order biological interaction network for the refraction-associated genes in table 2 (genes that do not interact directly with other genes in the network were omitted for clarity).…”

Section: Genetic Influences On Refractive Errormentioning

confidence: 99%

“…At least two of these genes, HGF (140) and COL2A1 (118), have also shown associations to milder refraction phenotypes (117, 138, 139). These results, and recent studies that reported genetic associations between ocular refraction and polymorphisms in matrix metalloproteinase genes (144, 145)(MMP1, MMP2, MMP3 and MMP9), suggest that common biological pathways may underlie extreme myopia and milder cases of refractive error.…”

Section: Genetic Influences On Refractive Errormentioning

confidence: 99%

See 1 more Smart Citation

Nature and nurture: the complex genetics of myopia and refractive error

2010

View full text Add to dashboard Cite

The refractive errors, myopia and hyperopia, are optical defects of the visual system that can cause blurred vision. Uncorrected refractive errors are the most common causes of visual impairment worldwide. It is estimated that 2.5 billion people will be affected by myopia alone with in the next decade. Experimental, epidemiological and clinical research has shown that refractive development is influenced by both environmental and genetic factors. Animal models have demonstrated that eye growth and refractive maturation during infancy are tightly regulated by visually-guided mechanisms. Observational data in human populations provide compelling evidence that environmental influences and individual behavioral factors play crucial roles in myopia susceptibility. Nevertheless, the majority of the variance of refractive error within populations is thought to be due to hereditary factors. Genetic linkage studies have mapped two dozen loci, while association studies have implicated more than 25 different genes in refractive variation. Many of these genes are involved in common biological pathways known to mediate extracellular matrix composition and regulate connective tissue remodeling. Other associated genomic regions suggest novel mechanisms in the etiology of human myopia, such as mitochondrial-mediated cell death or photoreceptor-mediated visual signal transmission. Taken together, observational and experimental studies have revealed the complex nature of human refractive variation, which likely involves variants in several genes and functional pathways. Multiway interactions between genes and/or environmental factors may also be important in determining individual risks of myopia, and may help explain the complex pattern of refractive error in human populations.

show abstract

Section: Genetic Influences On Refractive Errormentioning

confidence: 99%

Section: Genetic Influences On Refractive Errormentioning

confidence: 99%

Nature and nurture: the complex genetics of myopia and refractive error

2010

View full text Add to dashboard Cite

show abstract

“…In this group of genes, positive associations have been found for genes encoding collagens [157,171], proteoglycans [172,173], matrix metalloproteinases [174,175], and growth factors and their receptors [176][177][178][179][180]. The vitamin D receptor (VDR) gene is another example of a candidate gene.…”

Section: Candidate Gene Studiesmentioning

confidence: 99%

Update on the epidemiology and genetics of myopic refractive error

Sherwin

Mackey

2013

Expert Review of Ophthalmology

View full text Add to dashboard Cite

“…[53] The association of HGF with KC suggests the potential involvement of inflammatory pathway, moreover it has been shown as a risk factor for refractive error in several populations including Han Chinese and Caucasians. [5455] Lu and colleagues recently identified multiple loci associated with central corneal thickness (CCT) and KC. GWAS further showed that two CCT-associated loci, FOXO1 and FNDC3B , conferred relatively large risks for KC.…”

Section: Genome Wide Association Studies and Kcmentioning

confidence: 99%

Genetic and genomic perspective to understand the molecular pathogenesis of keratoconus

Jeyabalan

Shetty

Ghosh

et al. 2013

Indian J Ophthalmol

View full text Add to dashboard Cite

Keratoconus (KC; Mendelian Inheritance in Man (OMIM) 14830) is a bilateral, progressive corneal defect affecting all ethnic groups around the world. It is the leading cause of corneal transplantation. The age of onset is at puberty, and the disorder is progressive until the 3rd–4th decade of life when it usually arrests. It is one of the major ocular problems with significant social and economic impacts as the disease affects young generation. Although genetic and environmental factors are associated with KC, but the precise etiology is still elusive. Results from complex segregation analysis suggests that genetic abnormalities may play an essential role in the susceptibility to KC. Due to genetic heterogeneity, a recent study revealed 17 different genomic loci identified in KC families by linkage mapping in various populations. The focus of this review is to provide a concise update on the current knowledge of the genetic basis of KC and genomic approaches to understand the disease pathogenesis.

show abstract

Role of the Hepatocyte Growth Factor Gene in Refractive Error

Cited by 40 publications

References 37 publications

Nature and nurture: the complex genetics of myopia and refractive error

Nature and nurture: the complex genetics of myopia and refractive error

Update on the epidemiology and genetics of myopic refractive error

Genetic and genomic perspective to understand the molecular pathogenesis of keratoconus

Contact Info

Product

Resources

About