PNPLA3 I148M variant in nonalcoholic fatty liver disease: Demographic and ethnic characteristics and the role of the variant in nonalcoholic fatty liver fibrosis

Table 1 Studies evaluating the association between the PNPLA3 I148M variant and nonalcoholic fatty liver disease

Ref.	Population/Ethnicity country	n	Age	Diagnosis criteria	Key findings
Wang et al[26]	Asian	879	Adult	US	Increase in TG, ALT and AST
	Tai Wan
Sookoian et al[27]	Caucasian	266	Adult	US	Increased liver fat and liver Injury
	Argentina			Liver biopsy
Kollerits et al[28]	Italy/Austria/United States	4290	Adult	NA	Increase in ALT and AST
Xu et al[29]	Chinese	651	Adult	US	Increased ALT, GGT and related to development and progression of NAFLD
	China
Speliotes et al[32]	Caucasian	1597	Adult	Liver biopsy	Increased risk of histological NAFLD, but not associated with metabolic syndrome
	United States
Rotman et al[7]	Caucasian	1117	Adult	Liver biopsy	Earlier presentation of NAFLD in pediatric patients
	United States		Pediatric
Valenti et al[8]	Caucasian	149	Pediatric	Liver biopsy	Associated with steatosis, NASH and fibrosis
	Italian
Goran et al[34]	Hispanic	327	Pediatric	MRS	Higher liver fat and lower HDL-C
	United States
Davis et al[35]	Hispanic	153	Pediatric	MRI	Increased liver fat when dietary carbohydrate intake
	United States
Lin et al[36]	Asian	520	Pediatric	US	Increased ALT and risk of NAFLD
	Tai Wan
Viitasalo et al[37]	Caucasian	481	Pediatric	NA	Increase in ALT
	Finland
Sookoian et al[9]	Meta-analysis				A negative correlation between male sex and the variant on liver fat, and a lack of significant difference among genotypes for metabolic syndrome
Romeo et al[6]	Hispanic/	9229	Adult	H-MRS	Hispanics have a higher frequency of the 148M allele than European Americans and African Americans
	European American/
	African American
	United States
Zain et al[12]	Chinese, Indian and Malay	342	Adult	Liver biopsy	No effect of ethnicity on the association between the variant and NAFLD
	Malaysia
Browning et al[38]	White/Black/Hispanic	2287	Adult	H-MRS	Frequency of hepatic steatosis varied with ethnicity and gender
	United States
Petersen et al[39]	Caucasian/	482	Pediatric	Proton MRS	Asian-Indians have increased liver fat and prevalence of insulin resistance compared with all other ethnic groups
	Eastern Asian/		Adult
	Asian-Indian/Black/
	Hispanic
	United States
Wagenknecht et al[40]	Hispanic American/	1214	Adult	Abdominal	Hispanic Americans have a higher frequency of the 148M allele than African Americans
	African American			CT scanning
	United States
Kantartzis et al[44]	Caucasian	330	Adult	H-MRS	Higher liver fat but not insulin sensitivity, lipids, or liver enzymes
	Germany			MRT
Petit et al[45]	Caucasian	218	Adult	H-MRS	Not associated with BMI or visceral fat area
	France
Romeo et al[46]	Caucasian	475	Pediatric	US	Increased ALT and AST, but not glucose tolerance and insulin sensitivity
	Italy
Santoro et al[47]	Caucasian/	85	Pediatric	MRI	Increase susceptibility to hepatic steatosis, but without increasing insulin resistance
	Hispanic/
	African American
	United States

PNPLA3: Patatin-like phospholipase domain-containing 3; NAFLD: Nonalcoholic fatty liver disease; NASH: Nonalcoholic steatohepatitis; US: Ultrasonography; H-MRS: Hydrogen magnetic resonance spectroscopy; MRI: Magnetic resonance imaging; MRT: Magnetic resonance tomography; CT: Computed tomography; TG: Triglyceride; ALT: Alanine aminotransferase; AST: Aspartate aminotransferase; GGT: Gamma-glutamyl transferase; HDL-C: High-density lipoprotein cholesterol; LDL-C: Low-density lipoprotein cholesterol; BMI: Body mass index; NA: Not available.