Table 3.

Allelic associations of gene variations with keratoconus based on purely candidate gene 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	RXRA-COL5A1	rs1536482	3	Whites	G vs. A	681	4,515	1.5 × 10−5	0.76 (0.67–0.86)	0.64	0	0.44
2	FOXO1	rs2721051	3	Multiple ancestries†	C vs. T	471	1,162	9.4 × 10−3	0.69 (0.52–0.91)	0.51	0	0.28
3	BANP-ZNF469	rs9938149	3	Multiple ancestries†	C vs. A	472	1,164	0.017	0.75 (0.59–0.95)	0.31	27	0.40
4	COL4A4	rs2228557	4	Multiple ancestries†	T vs. C	359	437	0.020	0.63 (0.43–0.93)	0.021	70	0.41
		rs2229813	5	Multiple ancestries†	G vs. A	471	588	0.18	1.46 (0.84–2.55)	1.2 × 10−8	90	0.67
		rs1800516	2	Whites	C vs. G	217	257	0.62	0.84 (0.42–1.66)	0.90	0	n.a.
		rs2228555	3	Multiple ancestries†	G vs. A	329	407	0.74	1.04 (0.84–1.28)	0.96	0	0.95
		rs2229814	3	Multiple ancestries†	T vs. C	315	358	0.78	1.03 (0.83–1.28)	0.86	0	0.72
		rs56247709	2	Whites	A vs. T	217	257	1.00	1.00 (0.51–1.95)	0.99	0	n.a.
5	COL4A3	c.2685 A > C	2	Whites	C vs. A	217	258	0.032	1.36 (1.03–1.79)	0.98	0	n.a.
		rs55703767	4	Multiple ancestries†	T vs. G	360	436	0.14	0.29 (0.06–1.48)	5.1 × 10−16	96	0.18
		rs34019152	3	Multiple ancestries†	A vs. G	314	357	0.27	0.80 (0.53–1.19)	0.95	0	0.74
		rs28381984	3	Multiple ancestries†	T vs. C	314	359	0.27	0.89 (0.71–1.10)	0.92	0	0.74
		rs11677877	3	Multiple ancestries†	G vs. A	315	357	0.58	0.90 (0.62–1.30)	0.77	0	0.49
		rs13424243	3	Multiple ancestries†	C vs. G	314	358	0.67	0.89 (0.51–1.54)	0.51	0	0.30
		rs6436669	3	Multiple ancestries†	G vs. A	314	359	0.92	1.02 (0.75–1.38)	0.94	0	0.73
		rs10178458	3	Multiple ancestries†	T vs. C	313	358	0.97	0.99 (0.73–1.34)	0.93	0	0.70
6	FNDC3B	rs4894535	2	Chinese and Arabic	T vs. C	307	477	0.078	1.25 (0.98–1.60)	0.48	0	n.a.
7	VSX1	rs12480307	3	Multiple ancestries†	G vs. A	256	259	0.14	1.34 (0.91–1.98)	0.30	0	0.23
		rs8123716	2	Multiple ancestries†	A vs. C	139	152	0.27	1.58 (0.70–3.57)	0.34	0	n.a.
		rs74315433	2	Multiple ancestries†	T vs. G	139	151	0.48	1.76 (0.36–8.55)	0.26	23	n.a.
		rs56157240	2	Chinese and Indian	T vs. A	214	209	0.53	1.80 (0.28–11.40)	0.075	69	n.a.
		rs6138482	5	Multiple ancestries†	A vs. G	614	555	0.70	1.05 (0.83–1.32)	0.20	36	0.060
8	COL5A1	rs7044529	5	Multiple ancestries†	C vs. T	1,001	5,005	0.17	0.90 (0.78–1.04)	0.80	0	0.34
9	MPDZ-NFIB	rs1324183	3	Multiple ancestries†	C vs. A	474	1,164	0.18	0.75 (0.5–1.14)	7.3 × 10−3	81	0.051
10	IL1A	rs2071376	3	Korean, Chinese, and Japanese	A vs. C	366	590	0.33	1.15 (0.87–1.52)	0.16	43	0.89
11	IL1B	rs16944	4	Multiple ancestries†	T vs. C	487	711	0.52	0.91 (0.69–1.21)	0.047	63	0.51
		rs1143627	3	Korean, Chinese, and Japanese	C vs. T	366	591	0.53	0.87 (0.58–1.33)	0.017	77	0.58
12	IL1RN	rs2234663	2	Multiple ancestries†	1 vs. Non-1‡	221	221	0.93	0.98 (0.69–1.4)	0.58	0	n.a.
		rs2234663	2	Multiple ancestries†	2 vs. Non-2‡	221	221	0.65	1.16 (0.61–2.18)	0.15	51	n.a.
		rs2234663	2	Multiple ancestries†	3 vs. Non-3‡	221	221	0.84	0.92 (0.4–2.13)	0.47	0	n.a.
		rs2234663	2	Multiple ancestries†	4 vs. Non-4‡	221	221	0.53	0.62 (0.14–2.75)	0.47	0	n.a.
13	HGF	rs3735520	2	Multiple ancestries†	T vs. C	375	382	0.57	1.14 (0.72–1.81)	0.025	80	n.a.
14	LOX	rs2288393	2	Multiple ancestries†	C vs. G	276	342	0.72	1.11 (0.63–1.95)	0.057	72	n.a.
		rs1800449	2	Multiple ancestries†	C vs. T	277	343	0.84	0.92 (0.42–2.04)	4.0 × 10−3	88	n.a.
		rs2956540	2	Multiple ancestries†	G vs. C	375	383	0.97	0.99 (0.47–2.10)	6.8 × 10−4	91	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).

^‡ IL1RN rs2234663 were designated as IL1RN∗1 [4 repeats, 410 base pairs (bp)], IL1RN∗2 (2 repeats, 240 bp), IL1RN∗3 (5 repeats, 500 bp), IL1RN∗4 (3 repeats, 325 bp), and IL1RN∗5 (6 repeats, 595 bp).

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