Genome-Wide Association Study of Late-Onset Myasthenia Gravis: Confirmation of TNFRSF11A and Identification of ZBTB10 and Three Distinct HLA Associations

Table 2 Strongest association signals for LOMG.

Variant	Chromosome	Position (HG19)	Minor Allele	Major Allele	Case MAF	Control MAF	Additive P value	OR (95% CI)	OR age ≥60 years	Gene/location
rs111945767	6	32517045	C	G	0.46	0.62	3.13 × 10⁻¹⁷	0.52 (0.44–0.61)	0.49	MHC region
rs6998967	8	81364205	A	G	0.10	0.17	8.86 × 10⁻¹⁰	0.53 (0.42–0.65)	0.53	ZBTB10/34 kb 5′
rs4574025	18	60009814	C	T	0.55	0.47	3.91 × 10⁻⁷	1.42 (1.24–1.63)	1.31	TNFRSF11/intron
rs9963862	18	20587911	G	A	0.42	0.34	4.19 × 10⁻⁷	1.44 (1.25–1.66)	1.47	RBBP8/intron
rs12653117	5	9386585	T	C	0.13	0.08	5.34 × 10⁻⁷	1.76 (1.42–2.17)	1.75	SEMA5A/intron
rs6914704	6	1759880	G	C	0.42	0.49	2.32 × 10⁻⁶	0.72 (0.63–0.83)	0.74	GMDS/intron
rs4128527	8	72682693	T	C	0.14	0.19	3.68 × 10⁻⁶	0.62 (0.50–0.77)	0.62	MSC/71 kb 5′
5:31213962:D	5	31213962	TC	T	0.09	0.05	3.84 × 10⁻⁶	1.84 (1.44–2.37)	1.68	CDH6/intron
rs4518467	6	92196398	A	G	0.11	0.07	4.31 × 10⁻⁶	1.77 (1.40–2.23)	1.94	MIR4643/35 kb 5′
rs2476601	1	1143777568	A	G	0.16	0.11	6.50 × 10⁻⁶	1.62 (1.31–1.99)	1.66	PTPN22/coding

Data are shown for onset age ≥50 years, except for the OR for onset age ≥60 years as comparison. The strongest P values (if P < 10⁻⁵) for putative associations of each region are shown after re-analyses using IMPUTE2 including relevant covariates (see Materials and Methods). Additional SNPs for each region are shown in Supplementary Table S4. The OR and 95% CI are shown for the minor allele. The minor allele and minor allele frequency (MAF) was determined based on the entire data set (controls matched 4:1 with cases).

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