Evaluating the association between MPDZ-NF1B rs1324183 and keratoconus in an independent northwestern Chinese population

Abstract

Background Keratoconus (KC) is a complex, non-inflammatory corneal degenerative disease. Although numerous studies have analyzed the correlation of SNP rs1324183, which located in MPDZ-NF1B gene, and KC in different populations, only few findings were repeated. In this study, to evaluate the association between rs1324183 and KC in a new independent Chinese population, we performed a replication study of the significantly associated rs1324183. Methods In total of 114 unrelated KC patients and 88 unrelated controls were recruited from Ningxia, China. We detected the genotypes and alleles of rs1324183 using PCR technology and Sanger sequencing and also analyzed the association between this locus and KC, its clinical parameters by statistical methods. Results The frequency of genotype AA (11, 9.6%) and genotypes containing allele A (47, 41.2%) of rs1324183 in KC were both higher than those of the control group. And genotype AA of rs1324183 conferred a higher risk of KC (OR > 1). Moreover, corneal parameter Belin/Ambrósio enhanced ectasia display final D value (BAD-D) had significant correlation (p = 0.002) with AA genotype of rs1324183 in KC. Conclusions Our replication study indicates that the results of rs1324183 associated with KC in our population is robust and further better illustrates the significance of BAD-D as a diagnostic indicator for KC. rs1324183 should be considered as the first genetic mark of KC risk in its future diagnosis.

Family-based exome sequencing identifies candidate genes related to keratoconus in Chinese families

“…Currently, several genetic studies have been performed on KC in Chinese populations, and identified some genetic variants accounted for the disease (Hao et al, 2017;Xu et al, 2020;Zhang et al, 2020;Lin et al, 2022;Yuan et al, 2022). Nevertheless, the majority of the studies were performed in sporadic cases or one pedigree.…”