Regional differences in genetic susceptibility to non-alcoholic liver disease in two distinct Indian ethnicities

Table 1 General characteristics of the study

Characteristics	Ancestral South Indians			North-East Indians
	Controls	Patients	P value1	Controls	Patients	P value1
	(n = 138) (mean ± SD)	(n = 93) (mean ± SD)		(n = 109) (mean ± SD)	(n = 163) (mean ± SD)
Age (yr)	34.2 ± 11.9	35.3 ± 8.0	0.43	38.5 ± 12.7	36.5 ± 9.2	0.13
Gender male/female (n)	95/43	87/6	0.64	72/37	150/13	0.84
Waist circumference (cm)	83.3 ± 9.4	94.7 ± 10.2	0.01	81.1 ± 10.7	93.8 ± 10.1	0.01
Hip circumference (cm)	93.0 ± 7.1	100.5 ± 8.6	0.01	91.2 ± 6.9	95.1 ± 8.5	0.01
Waist/hip ratio	0.89 ± 0.06	0.95 ± 0.13	0.01	0.89 ± 0.07	0.99 ± 0.12	0.01
BMI (kg/m2)	23.2 ± 4.0	27.7 ± 4.1	0.01	22.1 ± 3.5	25.7 ± 4.0	0.01
ALT (IU/L)	19.8 ± 7.6	88.1 ± 49.5	0.01	24.6 ± 7.9	119.3 ± 68.3	0.01
AST (IU/L)	21.2 ± 5.4	55.3 ± 25.6	0.01	24.6 ± 6.9	72.3 ± 39.8	0.01
Triglycerides (mg/dL)	134.8 ± 72.6	169.7 ± 82.1	0.01	131.4 ± 60.8	180.3 ± 93.7	0.05
HDL (mg/dL)	38.7 ± 8.5	36.3 ± 6.9	0.09	47.9 ± 28.7	40.5 ± 13.8	0.02

¹Unpaired students t test (two tailed). BMI: Body mass index; ALT: Alanine aminotransferase; AST: Aspartate aminotransferase; HDL: High density lipoprotein.

Table 2 Genotype distribution of Tm6SF2 and PNPLA3 variants in the two ethnicities studies

	Ancestral South Indians						North-East Indians
	TM6SF2 rs58542926						TM6SF2 rs58542926
	Controls (n)	Patients (n)	Odds	95%CI	χ2	P value1	Controls (n)	Patients (n)	Odds	95%CI	χ2	P value1
Wild (CC)	110	61	2.7	1.37-5.3	15.28	0.0004	80	110	1.51	0.86-2.66	2.29	0.31
Heterozygous (CT)	18	22					22	44
Homozygous (TT)	0	7					2	6
PNPLA3 rs2281135
Wild (GG)	79	49	1.34	0.78-2.33	2.12	0.34	63	71	1.9	1.5-3.14	6.48	0.03
Heterozygous (GA)	45	35					32	71
Homozygous (AA)	4	6					9	17

¹χ² test. Odds: Odds ratio.

Table 3 Association of variants with clinical data

	Ancestral South Indians								North-East Indians
	CC	CT	TT	GG	GA	AA	χ2	P value1	CC	CT	TT	GG	GA	AA	χ2	P value1
TM6SF2 rs58542926
BMI
< 22.9	49	12	2				0.03	0.98	75	18	5				8.24	0.01
> 22.9	110	28	4						94	47	2
PNPLA3 rs2281135
BMI
< 22.9				38	23	2	0.59	0.74				48	37	10	0.077	0.96
> 22.9				82	52	8						71	58	14
TM6SF2 rs58542926
ALT
< 30	89	17	1				6.52	0.038	65	20	1				2.45	0.29
> 30	56	19	5						108	42	7
PNPLA3 rs2281135
ALT
< 30				64	39	4	1.3	0.52				54	28	4	10.27	0.005
> 30				42	33	5						66	71	19
TM6SF2 rs58542926
AST
< 30	90	18	0				10.19	0.006	68	20	3				0.96	0.61
> 30	55	18	6						105	42	5
PNPLA3 rs2281135
AST
< 30				65	40	3	2.89	0.23				54	30	7	5.55	0.06
> 30				41	32	6						66	69	16
TM6SF2 rs58542926
TG
< 150	54	13	4				1.64	0.43	58	25	6				3.89	0.14
> 150	33	12	1						60	29	1
PNPLA3 rs2281135
TG
< 150				42	25	8	0.29	0.86				49	32	8	2.49	0.28
> 150				29	14	3						39	40	11
TM6SF2 rs58542926
HDL
> 40	26	5	0				2.03	0.36	49	22	3				0.05	0.97
< 40	57	18	3						59	27	3
PNPLA3 rs2281135
HDL
> 40				20	11	0	2.52	0.28				39	28	7	0.5	0.77
< 40				46	26	6						71	58	14

¹χ² test. BMI: Body mass index; ALT: Alanine aminotransferase; AST: Aspartate aminotransferase; TG: Triglycerides; HDL: High density lipoprotein.

Table 4 Comparison of clinical data within the ethnicities

Characteristics	Controls			Patients
	ASI controls (n = 138) (mean ± SD)	NEI controls (n = 109) (mean ± SD)	P value1	ASI patients (n = 93) (mean ± SD)	NEI patients (n = 163) (mean ± SD)	P value
Age (yr)	34.2 ± 11.9	38.5 ± 12.7	0.006	35.3 ± 8.0	36.5 ± 9.2	0.29
Gender male/female (n)	95/43	72/37	-	87/6	150/13	-
Waist circumference (cm)	83.3 ± 9.4	81.1 ± 10.7	0.27	94.7 ± 10.2	93.8 ± 10.1	0.54
Hip circumference (cm)	93.0 ± 7.1	91.2 ± 6.9	0.23	100.5 ± 8.6	95.1 ± 8.5	0.01
Waist/hip ratio	0.89 ± 0.06	0.89 ± 0.07	1.0	0.95 ± 0.13	0.99 ± 0.12	0.03
BMI (kg/m2)	23.2 ± 4.0	22.1 ± 3.5	0.02	27.7 ± 4.1	25.7 ± 4.0	0.003
ALT (IU/L)	19.8 ± 7.6	24.6 ± 7.9	0.01	88.1 ± 49.5	119.3 ± 68.3	0.01
AST (IU/L)	21.2 ± 5.4	24.6 ± 6.9	0.01	55.3 ± 25.6	72.3 ± 39.8	0.01
Triglycerides (mg/dL)	134.8 ± 72.6	131.4 ± 60.8	0.79	169.7 ± 82.1	180.3 ± 93.7	0.44
HDL (mg/dL)	38.7 ± 8.5	47.9 ± 28.7	0.02	36.3 ± 6.9	40.5 ± 13.8	0.01

¹Unpaired students t test (two tailed). ASI: Ancestral South Indians; NEI: North-East Indians; BMI: Body mass index; ALT: Alanine aminotransferase; AST: Aspartate aminotransferase; HDL: High density lipoprotein.