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Choun-Ki Joo, Jung Seon Seo, Jeewon Mok; SLCA4A11 variant is associated with susceptibility to Fuchs endothelial corneal dystrophy patients in Korean. Invest. Ophthalmol. Vis. Sci. 2017;58(8):5656.
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To determine the possibility of solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), as potential susceptibility candidate gene for Korean Fuchs’ cornea dystrophy patients, we investigated whether SNPs of SLC4A11 are associated with FECD patients
Genomic DNA was extracted from blood samples of 8 families included 33 affected individuals and 69 sporadic patients with FECD, visited the Eye Center of Seoul St. Mary’s Hospital. To screen genetic variations in SLC4A11, we investigated using polymerase chain reaction and direct sequencing. Control individuals were selected from the general population without FECD.
In this study, we detected 5 SNPs in promoter region, 7 SNPs and one deletion in intervening region, and 7 silence mutations in SLC4A11. In IVS8-15 a>c, the frequencies of the *a/*a, *a/*c and *c/*c genotypes were 48.6%, 41.7% and 9.7% in FECD patients and were 17.1%, 59.2% and 23.7% in control subjects, respectively. The *a/*a genotype (p=0.001, OR = 4.58) was significantly more prevalent in 6 affected patients of 6 families and 28 sporadic patients with FECD than among control subjects. FECD patients had significantly higher *a allele frequency than controls (p=0.001, OR = 2.59). The genotype distributions of all polymorphisms of SLC4A11 among the control subjects and the affected individuals were in Hardy-Weinberg equilibrium.
This is the first report of genetic variation screening of SLC4A11 in Korean FECD patients and our results suggested that a genetic variant, IVS8-15 a>c, seem to be associated with FECD predisposition in a Korean.
This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.
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