Table 2.

Allelic associations of gene variations with keratoconus using cohorts from both GWAS and subsequent replication studies.

No.	Gene/locus	SNP	No. of cohorts	Ethnicity	Associated allele vs. Reference allele	Pooled sample size		Outcome*		Heterogeneity		Egger’s test (P)
						Case	Control	P	OR (95% CI)	P (Q)	I2 (%)
1	FOXO1	rs2721051	5	Multiple ancestries†	C vs. T	1,345	7,246	5.6 × 10−11	0.65 (0.57–0.74)	0.491	0	0.35
2	RXRA-COL5A1	rs1536482	4	Whites	G vs. A	1333	7276	2.5 × 10−9	0.77 (0.70–0.84)	0.819	0	0.89
3	FNDC3B	rs4894535	4	Multiple ancestries†	T vs. C	1,182	6,563	1.4 × 10−8	1.39 (1.24–1.55)	0.628	0	0.76
4	IMMP2L	rs757219	3	Whites	C vs. T	1,052	6,604	6.1 × 10−7	1.45 (1.25–1.67)	0.266	26	0.61
		rs214884	3	Whites	G vs. A	1,051	6,603	2.3 × 10−5	1.56 (1.27–1.91)	0.157	46	0.89
5	BANP-ZNF469	rs9938149	5	Multiple ancestries†	C vs. A	1,346	7,248	1.3 × 10−5	0.79 (0.70–0.88)	0.422	12	0.77
6	KCND3	rs4839200	2	Whites	A vs. G	745	6,084	3.9 × 10−4	1.63 (1.25–2.14)	0.068	70	n.a.
7	RAB3GAP1	rs4954218	3	Whites	G vs. T	1049	6604	8.2 × 10−4	0.64 (0.50–0.83)	0.021	75	0.19
8	UBXD2	rs6430585	3	Whites	A vs. C	1049	6604	1.1 × 10−3	1.36 (1.13–1.64)	0.065	63	0.62
9	13q33.3	rs1328089	2	Whites	C vs. T	747	6,086	1.7 × 10−3	1.38 (1.13–1.68)	0.109	61	n.a.
		rs1328083	3	Whites	G vs. T	1,050	6,604	3.0 × 10−2	1.38 (1.03–1.84)	0.008	82	0.88
10	MPDZ-NFIB	rs1324183	5	Multiple ancestries†	C vs. A	1,349	7,250	5.5 × 10−3	0.76 (0.63–0.92)	0.034	67	0.75
11	COL5A1	rs7044529	6	Multiple ancestries†	C vs. T	1,652	7,766	7.0 × 10−3	0.84 (0.74–0.95)	0.432	18	0.051
12	LOX	rs10519694	3	Whites	T vs. C	692	6,599	0.018	0.76 (0.61–0.95)	0.138	50	0.74
		rs2956540	4	Multiple ancestries†	G vs. C	901	6,788	0.28	0.83 (0.59–1.16)	<0.001	87	0.35
13	HGF	rs3735520	6	Multiple ancestries†	T vs. C	1,311	4,545	0.027	1.25 (1.03–1.51)	0.002	72	0.60
		rs1014091	2	Whites	A vs. G	362	480	0.41	0.70 (0.30–1.64)	0.005	87	n.a.
		rs2286194	2	Whites	A vs. T	354	960	0.70	0.85 (0.39–1.89)	0.001	91	n.a.
14	19p12	rs8111998	3	Whites	T vs. C	1,049	6,603	0.035	1.48 (1.03–2.13)	0.018	75	0.74
15	PPP3CA	rs2659546	3	Whites	A vs. G	1,050	6,602	0.06	1.46 (0.99–2.15)	0.014	75	0.77
16	3q26.2	rs6792542	3	Whites	C vs. A	1,051	6,603	0.15	1.22 (0.93–1.61)	0.001	84	0.48
17	BHLHB2	rs6442925	3	Whites	T vs. C	1,050	6,603	0.21	1.28 (0.87–1.88)	<0.001	89	0.93
18	KIF26B	rs12407427	2	Whites	T vs. C	747	6,085	0.28	1.34 (0.79–2.30)	0.001	92	n.a.
19	BIRC8	rs1428642	3	Whites	A vs. G	1,050	6,602	0.29	0.84 (0.61–1.16)	<0.001	90	0.45
20	LRRN1	rs3749350	3	Whites	T vs. G	1,052	6,603	0.32	1.24 (0.81–1.88)	<0.001	89	0.64
21	12p13.3	rs1978238	2	Whites	C vs. A	746	6,086	0.36	0.81 (0.52–1.27)	<0.001	92	n.a.
22	COL4A3	rs7606754	2	Multiple ancestries†	A vs. G	760	3,061	0.42	1.10 (0.87–1.38)	0.155	50	n.a.

^*A random-effects model was used.

^†Multiple ancestries included 2 or more ethnic groups from Whites and Asian (Arabic, Chinese, Korean, Japanese, or Indian).

CI = confidence interval; OR = odds ration; SNP = single nucleotide polymorphism; n.a. = not applicable; No. = number.