Do age-related macular degeneration genes show association with keratoconus?

摘要: Keratoconus (KC) is a common corneal condition with an unknown gender predominance. Although numerous studies have investigated the genetic component of KC, no specific genes yet been attributed to condition. We recently reported posterior segment changes occurring in eyes KC patients. However, it not clear whether these are part pathogenesis or reflect anatomical features eye manifested by at cornea. Given retinal represent main characteristics observed age-related macular degeneration (AMD) and that pleiotropy has demonstrated between different diseases, we wished assess if known AMD associated were also KC. A total 248 subjects 366 non-KC (control) recruited from public private clinics Melbourne for this analysis. Nineteen single nucleotide polymorphisms (SNPs) previously AMD, including rs10490924 (ARMS2/HTRA1), rs10737680 (CFH), rs13278062 (TNFRSF10A), rs1864163 (CETP), rs2230199 (C3), rs3130783 (IER3/DDR1), rs334353 (TGFBR1), rs3812111 (COL10A1), rs429608 (C2/CFB), rs4420638 (APOE), rs4698775 (CFI), rs5749482 (TIMP3), rs6795735 (ADAMTS9), rs8017304 (RAD51B), rs8135665 (SLC16A8), rs920915 (LIPC), rs943080 (VEGFA), rs9542236 (B3GALTL) rs13081855 (COL8A1/FILIP1L), genotyped cohort. Logistic regression was applied evaluate association SNPs on both genders together, as well each separately. Linear curvature. Bonferroni correction adjust multiple testing. Genotyping data available 18 SNPs. The SNP, (ADAMTS9) significantly (p = 3.5 × 10− 4) when assessed, whereas (TIMP3) only males (p = 7.7 × 10− 4) following correction. covariates age included, associations became non-significant. In addition, none appeared significant Our study suggested potential ADAMTS9 gene TIMP3 may be specific. Overall, initially identified further impacted other factors such needed resolve issue.