Analysis of multiple genetic loci reveals MPDZ-NF1B rs1324183 as a putative genetic marker for keratoconus

The British Journal of Ophthalmology
Yu Meng WangLi Jia Chen

Abstract

To investigate the associations between 16 single-nucleotide polymorphisms (SNPs) in 14 genetic loci and keratoconus in an independent Chinese cohort. This cross-sectional, case-control association study included a Chinese cohort of 133 patients with keratoconus and 371 control subjects. In a recent meta-analysis study, we identified association of 16 SNPs in 14 gene loci with keratoconus. In this study, we genotyped these 16 SNPs in all the patients and controls and analysed their association with keratoconus, its clinical severities and progression profiles. We also analysed the genotype-phenotype correlation between individual SNPs and steep keratometry, flat keratometry (Kf), average keratometry (Avg K) and best-fit sphere diameter (BFS) of the anterior and posterior corneal surface. Among the 16 selected SNPs, rs1324183 in the MPDZ-NF1B locus showed a significant association with keratoconus (OR=2.22; 95% CI 1.42 to 3.45, p=4.30×10-4), especially severe keratoconus (OR=5.10, 95% CI 1.63 to 15.93, p=0.005). The rs1324183 A allele was positively associated with anterior Kf (p=0.008), anterior Avg K (p=0.017), posterior Kf (p=0.01) and negatively associated with apex pachymetry (p=0.007) and anterior BFS (p=0.023) in keratoco...Continue Reading

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Citations

Nov 1, 2018·Clinical & Experimental Optometry : Journal of the Australian Optometrical Association·Pauline Cho, Qi Tan
Dec 26, 2019·BMC Medical Genomics·Rui SunMaggie Haitian Wang
Apr 23, 2020·Annual Review of Vision Science·Sionne E M Lucas, Kathryn P Burdon
Dec 15, 2020·Experimental Eye Research·Yelena Bykhovskaya, Yaron S Rabinowitz

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