Table 1.
Summary of the commonly reported single nucleotide polymorphism (SNP) associated with NAFLD.
| Gene | SNP | Population Study | SNP Effects | Reference(s) |
|---|---|---|---|---|
| PNPLA3 | rs738409 C > G (I148M) | Caucasians, African, Japanese, Latinos, Native Hawaiians, and European Americans, Amish, Family Heart Study, Framingham Heart Study, Finnish, Chinese, Taiwanese | Associated with NAFLD risk and steatosis | [34,35,36,37,38,39,40,41,42,43,44,45] |
| German, Japanese | Associated with NAFLD risk, steatosis, and fibrosis | [46,47,48] | ||
| Italian | Associated with NAFLD risk, steatosis, fibrosis, and cirrhosis | [49,50,51,52] | ||
| Belgians | Associated with NAFLD and NASH risk | [53] | ||
| Brazilian, Malaysians (Malays, Chinese, and Indians) | Associated with NAFLD and NASH risk, but not steatosis | [54,55] | ||
| Turkish | Associated with NAFLD and NASH risk, and fibrosis | [56,57] | ||
| Chinese | Associated with NAFLD risk but not steatosis | [58] | ||
| Chinese | Associated with NAFLD risk in lean individuals | [59] | ||
| Japanese | Associated with NAFLD risk and fibrosis, but not steatosis | [60,61] | ||
| Korean | Associated with NAFLD risk and fibrosis | [62,63] | ||
| Indian, Sri Lankans, Bangladeshi, Iranian, Singaporean (Chinese) | Associated with NAFLD risk | [64,65,66,67,68,69,70,71] | ||
| Indian | Associated with NAFLD and NASH risk, and steatosis | [72] | ||
| Filipinos | No association with NAFLD risk | [73] | ||
| rs2896019 T > G | Japanese | Associated with NAFLD risk | [74] | |
| rs6006460 G > T (S453I) | African American | Associated with lower hepatic fat content | [34] | |
| TM6SF2 | rs58542926 G > A (E167K) | Caucasian, African, Hispanic, and European Americans, Swedish, European, Finnish, Polish, and Italian | Associated with NAFLD risk and steatosis | [49,52,75,76,77,78,79,80,81,82] |
| German | Associated with NAFLD risk and steatosis but not fibrosis | [47] | ||
| Caucasians, African, and Hispanic Americans, Chinese | Associated with NAFLD risk, steatosis, and fibrosis | [43,83,84,85,86,87] | ||
| Italian, Finnish, and Swedish | Associated with NASH progression | [88] | ||
| Korean | Associated with NASH and fibrosis | [89] | ||
| Indian, Argentinian | Associated with NAFLD risk | [66,77,90] | ||
| Brazilian, Japanese, Singaporean (Chinese) | No association with NAFLD | [54,71,91] | ||
| GCKR | rs780094 C > T | Amish, Family Heart Study, and Framingham Heart Study, Caucasian, African, and Mexican Americans | Associated with NAFLD risk and steatosis | [39,92] |
| German | Associated with NAFLD and fibrosis severity | [46] | ||
| Italian | Associated with liver fibrosis severity | [93] | ||
| Taiwanese, Uygur | Associated with NAFLD risk | [94,95] | ||
| Malaysians (Malays, Chinese, and Indians) | Associated with NAFLD, NASH, and fibrosis | [96] | ||
| Iranian, Chinese, Singaporean (Chinese) | No association with NAFLD | [71,97,98] | ||
| rs1260326 C > T (P446L) | Italian, Japanese, Uygur, and Chinese | Associated with NAFLD risk | [49,74,95,99,100] | |
| Finnish | Associated with steatosis | [101] | ||
| Malaysians (Malays, Chinese, and Indians) | Associated with NAFLD, NASH, and fibrosis | [96] | ||
| Chinese | No association with NAFLD | [98,102] | ||
| MBOAT7 | rs641738 C > T | Dallas Heart Study and Europeans, Italian | Associated with NAFLD risk and steatosis | [49,52,103] |
| Finnish | Associated with NASH and fibrosis | [104] | ||
| German | Associated with fibrosis only | [47] | ||
| Eastern European | No association with fibrosis or cirrhosis | [105] | ||
| Americans, Italian, Argentinian, Chinese, Taiwanese, and Korean | No association with NAFLD risk | [37,89,102,106,107,108] | ||
| HSD17B13 | rs72613567 T > TA | Caucasian Americans | Associated with steatosis and lower risk of inflammation and NASH | [109,110] |
| European, Finnish | Associated with lower NASH and fibrosis risk | [111,112] | ||
| Argentinian, Japanese | Associated with lower NASH risk | [113,114] | ||
| Korean | Associated with lower NAFLD risk | [115] |
Abbreviation: GCKR: glucokinase regulatory protein; HSD17B13: hydroxysteroid 17β-dehydrogenase; MBOAT7: membrane-bound O-acyltransferase domain-containing 7; NAFLD: nonalcoholic fatty liver disease; NASH: nonalcoholic steatohepatitis; PNPLA3:patatin-like phospholipase domain-containing 3; TM6SF2: transmembrane 6 superfamily member 2.