TY - JOUR
T1 - Potential underlying genetic associations between keratoconus and diabetes mellitus
AU - Ates, Kristin M.
AU - Estes, Amy J.
AU - Liu, Yutao
N1 - Publisher Copyright:
© 2021 The Author(s)
PY - 2021/11
Y1 - 2021/11
N2 - Background: Keratoconus (KC) is the most common ectatic corneal disease, characterized by significantly localized thinning of the corneal stroma. Genetic, environmental, hormonal, and metabolic factors contribute to the pathogenesis of KC. Additionally, multiple comorbidities, such as diabetes mellitus, may affect the risk of KC. Main Text: Patients with diabetes mellitus (DM) have been reported to have lower risk of developing KC by way of increased endogenous collagen crosslinking in response to chronic hyperglycemia. However, this remains a debated topic as other studies have suggested either a positive association or no association between DM and KC. To gain further insight into the underlying genetic components of these two diseases, we reviewed candidate genes associated with KC and central corneal thickness in the literature. We then explored how these genes may be regulated similarly or differentially under hyperglycemic conditions and the role they play in the systemic complications associated with DM. Conclusions: Our comprehensive review of potential genetic factors underlying KC and DM provides a direction for future studies to further determine the genetic etiology of KC and how it is influenced by systemic diseases such as diabetes.
AB - Background: Keratoconus (KC) is the most common ectatic corneal disease, characterized by significantly localized thinning of the corneal stroma. Genetic, environmental, hormonal, and metabolic factors contribute to the pathogenesis of KC. Additionally, multiple comorbidities, such as diabetes mellitus, may affect the risk of KC. Main Text: Patients with diabetes mellitus (DM) have been reported to have lower risk of developing KC by way of increased endogenous collagen crosslinking in response to chronic hyperglycemia. However, this remains a debated topic as other studies have suggested either a positive association or no association between DM and KC. To gain further insight into the underlying genetic components of these two diseases, we reviewed candidate genes associated with KC and central corneal thickness in the literature. We then explored how these genes may be regulated similarly or differentially under hyperglycemic conditions and the role they play in the systemic complications associated with DM. Conclusions: Our comprehensive review of potential genetic factors underlying KC and DM provides a direction for future studies to further determine the genetic etiology of KC and how it is influenced by systemic diseases such as diabetes.
KW - Collagen crosslinking
KW - Diabetes
KW - Genetics
KW - Keratoconus
KW - Oxidative stress
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U2 - 10.1016/j.aopr.2021.100005
DO - 10.1016/j.aopr.2021.100005
M3 - Review article
AN - SCOPUS:85122896472
SN - 2667-3762
VL - 1
JO - Advances in Ophthalmology Practice and Research
JF - Advances in Ophthalmology Practice and Research
IS - 1
M1 - 100005
ER -