Evaluating the Association Between Keratoconus and the Corneal Thickness Genes in an Independent Australian Population

Abstract

The SNPs rs1324183 in the MPDZ-NF1B gene and rs9938149 (between BANP and ZNF4659) were associated with KC in this independent cohort, but their association was via a non-corneal curvature route.

Evaluating the Association between Keratoconus and Reported Genetic Loci in a Han Chinese Population

“…Later, Sahebjada and colleagues undertook a replication study of the six significantly associated SNPs identified by Lu and co-workers in an independent Australian population and replicated the associations of rs1324183 (MPDZ-NF1B) and rs9938149 (BANP-ZNF469) with KC. 14 Based on the above observations, all of the reported associated SNPs were detected in Caucasians and Australians except rs6050307 in the VSX1 gene. KC is a complex degenerative disorder of the cornea, and different populations may have different susceptibility genes or loci.…”

Assessment of Anterior Segment Parameters of Keratoconus Eyes in an Australian Population

“…30,37,38 These findings also support our recent replication of genomewide association studies 39Y41 that showed an association of KC with CCT genes wherein we confirmed the association of two CCT genes with KC. 42 Within the general population, CCT is a normally distributed quantitative trait, with evidence from twin and familial studies indicating that it is highly heritable. 43Y45 Thus, identifying genes involved in corneal thickness may provide a better understanding of the genetic basis of this trait.…”

Molecular genetic aspects of keratoconus pathogenesis

“…Промотор гена HGF содержит сайт связывания интерлейкина IL-6, который ак-тивирует транскрипцию гена HGF. Это позволяет предположить, что IL-6 и HGF являются важ-ными участниками патогенеза кератоконуса [29]. Ассоциация HGF с кератоконусом предполагает потенциальное участие в его патогенезе воспали-тельного сигнального пути [13].…”