Associations between CRYBA4 gene variants and high myopia in a Japanese population

Figures & data

Table 1 Clinical characteristics of the study populations

Parameters	High myopiaa	Controlsb
	(n=1,063)	(n=1,009)
Male (%)	43.1	44.3
Mean agec (years)	38.7±11.8	58.3±12.2
Age range (years)	13–72	20–87
Mean SEc (D)
Right eyes	−11.21±1.92	0.49±0.64
Left eyes	−11.13±1.95	0.49±0.63
Range of SE (D)
Right eyes	−9.00 to −22.75	−0.75 to 3.50
Left eyes	−9.00 to −24.50	−0.75 to 3.00
Mean ALc (mm)
Right eyes	27.64±1.18	23.22±0.80
Left eyes	27.60±1.16	23.20±0.79
Range of AL (mm)
Right eyes	23.92–33.85	18.76–25.96
Left eyes	23.99–33.17	18.99–26.05

Notes:

a High myopia cases defined as SE ≤−9.0 D in both eyes.

b Controls are defined as SE >−1.0 D in both eyes.

c Data presented are mean ± standard deviation unless otherwise indicated.

Abbreviations: SE, spherical equivalent; AL, axial length.

Figure 1 Linkage disequilibrium plot of four CRYBA4 SNPs for 2,072 study participants.

Notes: The r² value corresponding to each SNP pair is expressed as a percentage, and it is shown within the respective diamond. The darker shades of black represent greater r² values.
Abbreviation: SNP, single-nucleotide polymorphism.

Table 2 Allelic association results for CRYBA4 SNPs

SNP	Positiona	Allele	Risk allele	Risk allele frequency (%)		P-value	OR (95% CI)
				Cases	Controls
rs16982456	27018049	C/T	T	94.2	94.0	0.723	1.05 (0.81–1.36)
rs2071861	27021189	A/G	A	52.6	50.6	0.211	1.08 (0.96–1.22)
rs4276	27021425	A/G	A	34.7	33.7	0.533	1.04 (0.92–1.18)
rs2009066	27029545	A/G	G	55.1	53.6	0.345	1.06 (0.94–1.20)

Note:

a Position on chromosome 22 according to the human assembly GRCh37.

Abbreviations: SNP, single-nucleotide polymorphism; OR, odds ratio; CI, confidence interval.

Table 3 Genotype association results for CRYBA4 SNPs

SNP	Allele	Risk allele	Genotype ((R/R)/(R/nR)/(nR/nR)) frequency (%)		Genetic modelsa
			Cases	Controls	Additive model		Dominant model		Recessive model
					P-value	OR (95% CI)	P-value	OR (95% CI)	P-value	Pc	OR (95% CI)
rs16982456	C/T	T	88.7/11.0/0.3	88.4/11.1/0.5	0.899	1.02 (0.73–1.43)	0.999	1.00 (0.18–5.48)	0.894		1.02 (0.72–1.46)
rs2071861	A/G	A	28.1/48.9/23.0	24.3/52.7/23.0	0.437	1.07 (0.91–1.25)	0.370	0.88 (0.68–1.16)	0.037	0.150	1.31 (1.02–1.69)
rs4276	A/G	A	12.0/45.2/42.7	10.7/46.1/43.2	0.526	1.06 (0.89–1.25)	0.773	1.03 (0.82–1.30)	0.380		1.17 (0.82–1.66)
rs2009066	A/G	G	30.6/49.0/20.4	27.2/52.9/19.9	0.256	1.10 (0.93–1.29)	0.638	0.93 (0.70–1.24)	0.032	0.128	1.31 (1.02–1.68)

Notes:

a To assess each risk allele, genotype data were analyzed with multiple inheritance models, as follows: additive (R/R vs R/nR vs nR/nR), dominant (R/R + R/nR vs nR/nR), and recessive (R/R vs R/nR + nR/nR). P-values and ORs were adjusted for age and sex.

Abbreviations: SNP, single-nucleotide polymorphism; R, risk allele; nR, non-risk allele; OR, odds ratio; CI, confidence interval; Pc, corrected P-value.