Identification of deleterious rare variants in MTTP, PNPLA3, and TM6SF2 in Japanese males and association studies with NAFLD

Table 1 Association of the burden of rare alleles in MTTP, PNPLA3, and TM6SF2 with the risk of NAFLD in Japanese males

Mutation set			Variant carrier	Non carrier	OR	95% CI	P
(A)	MTTP	control	13	450	0.55	0.00–1.17	0.269
Non-synonymous	MTTP	case	8	499
Splice site	PNPLA3	control	3	458	3.39	1.16–12.24	0.0409
Frame shift	PNPLA3	case	11	492
	TM6SF2	control	5	458	1.10	0.33–3.62	1
	TM6SF2	case	6	501
(B)	MTTP	control	9	453	0.3	0.00–0.90	0.0793
Damaging (PolyPhen)	MTTP	case	3	504
Splice site	PNPLA3	control	3	459	2.14	0.68–8.33	0.3465
Frame shift	PNPLA3	case	7	500
	TM6SF2	control	5	457	1.09	0.40–3.61	1
	TM6SF2	case	6	501

Only SNVs and indels with minor allel frequency less than 1% were considered in burden analysis. Upper mutation set includes missense SNVs, mutation at splice site dinucleotides and frame shift mutatiopns. Damaging (PolyPhen) indicates missense SNVs annoted as ‘possibly damaging’ or ‘probabbly damaging’ by PolyPhen2 HumDiv software. OR (odds ratio) and P-values of Fisher’s exact tests are shown

ISSN: 1476-511X