Genetic variants associated with metabolic dysfunction-associated fatty liver diseases in a Korean population

Table 2 Examples of significant variants according to MAFLD subgroup

Chr	Position^†	SNP	Gene symbol	Effect/other allele	Cohort	EAF in cases	EAF in controls	p value^‡	OR (CI 95%)
2	27,730,940	rs1260326	GCKR	C/T	Obese MAFLD	0.57	0.55	1.10E−07	1.23 (1.14–1.32)
2	27,730,940		GCKR	C/T	Non-obese MAFLD	0.59	0.55	2.84E−03	1.20 (1.06–1.35)
19	19,379,549	rs58542926	TM6SF2	T/C	Obese MAFLD	0.09	0.07	3.52E−09	1.52 (1.32–1.74)
19	19,379,549		TM6SF2	T/C	Non-obese MAFLD	0.08	0.07	4.85E−02	1.24 (1.00–1.54)
22	44,324,727	rs738409	PNPLA3	G/C	Obese MAFLD	0.46	0.39	5.41E−36	1.64 (1.52–1.77)
22	44,324,727		PNPLA3	G/C	Non-obese MAFLD	0.49	0.39	2.43E−13	1.56 (1.39–1.76)
22	44,324,730	rs738408	PNPLA3	T/C	Obese MAFLD	0.46	0.39	5.41E−36	1.64 (1.52–1.77)
22	44,324,730		PNPLA3	T/C	Non-obese MAFLD	0.49	0.39	2.43E−13	1.56 (1.39–1.76)
22	44,368,122	rs3761472	SAMM50	G/A	Obese MAFLD	0.45	0.38	1.73E−30	1.57 (1.45–1.70)
22	44,368,122		SAMM50	G/A	Non-obese MAFLD	0.48	0.38	6.86E−13	1.55 (1.37–1.74)
22	44,372,632	rs14315	SAMM50	T/C	Obese MAFLD	0.53	0.48	6.13E−25	1.49 (1.38–1.61)
22	44,372,632		SAMM50	T/C	Non-obese MAFLD	0.57	0.48	2.56E−11	1.51 (1.34–1.70)
22	44,386,281	rs7587	SAMM50	T/C	Obese MAFLD	0.32	0.36	4.68E−15	0.73 (0.67–0.79)
22	44,386,281		SAMM50	T/C	Non-obese MAFLD	0.30	0.36	3.72E−06	0.74 (0.65–0.84)
22	44,395,451	rs1007863	PARVB	C/T	Obese MAFLD	0.53	0.48	7.40E−24	1.48 (1.37–1.60)
22	44,395,451		PARVB	C/T	Non-obese MAFLD	0.57	0.48	1.07E−10	1.48 (1.32–1.67)

Chr chromosome, MAFLD metabolic dysfunction-associated fatty liver disease, EAF effect allele frequency, OR odds ratio, CI confidence interval, SNP single nucleotide polymorphism
^†Physical position based on human reference genome build 19
^‡P values were calculated using logistic regression, adjusting for age, sex, and body mass index

ISSN: 2047-783X