. Author manuscript; available in PMC: 2022 Apr 4.

Published in final edited form as: Allergy. 2021 Mar 15;76(8):2510–2523. doi: 10.1111/all.14762

TABLE 4.

Association between five previously documented FLG variants and risk of ADEH+ and ADEH− showing the carrier count within each group, the odds ratio (OR), 95% confidence interval (CI) and p-value for each comparison, and the allele frequencies in the TGP super-populations as reference

	Carrier Count				ADEH− vs NA	ADEH+ vs ADEH−	ADEH+ vs NA	TGP Frequency (Ref/Alt)
FLG Variant		ADEH+	ADEH−	NA	OR [95% CI] p-value	OR [95% CI] p-value	OR [95% CI] p-value]	AFR AMR EAS EUR SAS
S3247X (WT = CC; MUT = AA) (rs150597413)	GG	48	481	236	4.87 [0.7–213.6] 0.116	1.00 [0.02–7.3] 1	4.88 [0.06–386.2] 0.3136	G/T
								100%/0%
								100%/0%
								100%/0%
	GT	1	10	1				99.8%/0.2%
	TT	0	0	0				100%/0%
R2447X (WT = CC; MUT = TT) (rs138726443)	GG	46	474	237	17.20 [undefined^a] 0.0026	1.79 [0.3–6.6] 0.4165	34.78 [undefined^a] 0.0049	G/A
								100%/0%
								99.7%/0.3%
								100%/0%
	GA	3	17	0				99.7%/0.3%
	AA	0	0	0				100%/0%
R501X (WT = CC; MUT = TT) (rs61816761)	GG	38	428	230	4.66 [2.1–10.2] 0.0001	1.65 [0.8–3.2] 0.1377	8.44 [3.1–22.7] 2.4957×10⁻⁵	G/A
								99.8/0.2%
								99.4/ 0.6%
								100/0%
	GA	11	58	7				99.0/1.0%
	AA	0	5	0				99.9/0.1%
2282del4 (MUT = delCAGT)	WT	40	419	225	3.14 [1.7–5.8] 0.0003	1.21 [0.6–2.4] 0.5917	3.98 [1.6–10.2] 0.0038	NA
	HET	7	65	12
	MUT	1	7	0
3702delG (MUT = delG)	No Carriers for this deletion in the dataset.							NA

Abbreviation: NA, variant not found in TGP.

CI could not be estimated due to 0 genotype counts in the control category. Allele frequencies were obtained for Phase 3 release of TGP for five super-populations: AFR (African), AMR (Admixed American), EAS (East Asian), EUR (European), and SAS (South Asian). The frequencies were obtained from the Human (GRCh37.p13) genome on Ensembl.