Recent Advances in Genetic Predisposition of Myasthenia Gravis

Table 2

Association of PTPN22 rs2476601 and rs2488457 SNPs with distinct MG subgroups, in six different populations.

SNP/Associated allele	Ethnic group or descent	MG subgroup	Number of cases	𝑃 value	Reference
rs2476601/1858T	North European	EOMG with thymus hyperplasia	649	8.2×10^−10a	[19]
	French	Nonthymoma & ATA (−)	293	5.9×10^−4	[21]
		Nonthymoma & ATA (+)	97	NS
		Thymoma	80	NS
	Swedish Caucasian	All patients	409	2.7×10^−4	[20]
		Thymus hyperplasia	142	1.4×10^−4
		AChR (+)	350	4.9×10^−4
		Thymus hyperplasia & AChR (+)	128	6.6×10^−5
	German & Hungarian	All nonthymoma MG patients	208	NS	[45]
		Nonthymoma & ATA (+)	50	7×10^−3a
		Nonthymoma & ATA (−)	152	NS
		AChR (+)	164	<0.05
		Thymoma	33	NS
	German Caucasian	Thymoma	79	2.8×10^−3	[46]
		EOMG	—	3.4×10^−4
	Italian Caucasian	All MG patients	356	NS^b	[47]
		EOMG	117	NS^b
		AChR (+)	252	NS^b
		MuSK (+)	72	NS^b
		Thymoma	56	NS^b
		Nonthymoma	300	NS^b
	Meta-analysis of the [20, 21, 45, 46]	All MG patients	—	<1 ×10^−5	[47]
		Nonthymoma	—	<1 ×10^−5
		AChR (+)	—	<1 ×10^−5
		Thymoma	—	NS
rs2488457/-1123C	Italian Caucasian	AChR (+) with low titer ≤ 10 nM	50	0.019	[47]

aAdjusted according to Bonferroni correction for multiple testing.
^b𝑃 values were calculated based on genotype frequencies between patients and controls.