Pooled genetic analysis in ultrasound measured non-alcoholic fatty liver disease in Indian subjects: A pilot study

Kanth, Vishnubhotla Venkata Ravi

doi:10.4254/wjh.v6.i6.435

Cited by 30 publications

(25 citation statements)

References 24 publications

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“…Recently, a study of monozygotic twins with NASH-related cirrhosis found rs1227756 to be a contributing factor in disease progression (Grove et al, 2016). Additionally, we observed an association between rs1227756 COL13A and higher triglyceride levels, which supports the findings of a study conducted with NAFLD patients in India (Ravi Kanth et al, 2014). Our results differ from those of a recent study that did not observe an association between the rs1227756 variant and the presence of NAFLD in Chinese children (Shang et al, 2015).…”

Section: Discussionsupporting

confidence: 91%

“…Studies of genetic regions like PNPLA3 , SAMM50 and PARVB support this idea, since variants in these genes have been associated with NAFLD and elevated ALT and AST levels (Flores et al, 2016; Kitamoto et al, 2013; Ravi Kanth et al, 2014). Krawczyk et al found that the combined effect of several SNPs was linked to the presence of elevated ALT levels, as well as NAFLD severity (Krawczyk et al, 2017).…”

Section: Discussionmentioning

confidence: 97%

“…The SAMM50 gene is located in the same genetic region as PNPLA3 , and polymorphisms of this gene, including rs2143571, have been associated with NAFLD among Japanese, Chinese, and Indian populations (Chen et al, 2015; Kitamoto et al, 2013; Ravi Kanth et al, 2014). We found that the variant rs2143571 SAMM50 was associated with higher levels of AST in our sample of Mexican adults.…”

Section: Discussionmentioning

confidence: 99%

“…PNPLA3 variants may explain the hepatic fat accumulation that is essential for the development of NAFLD (Romeo et al, 2008; Speliotes et al, 2011). Additionally, SAMM50 and COL13A1 variants may promote inflammation (Ravi Kanth et al, 2014; Tuomisto et al, 2008), which also contributes to the development of NAFLD. Elevated fat intake increases ALT and AST levels as a normal metabolic response (Kechagias et al, 2008).…”

Section: Discussionmentioning

confidence: 99%

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Genetic variants in COL13A1, ADIPOQ and SAMM50 , in addition to the PNPLA3 gene, confer susceptibility to elevated transaminase levels in an admixed Mexican population

Larrieta‐Carrasco

Flores

Macías-Kauffer

et al. 2018

Experimental and Molecular Pathology

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Non-alcoholic fatty liver disease (NAFLD) is the accumulation of extra fat in liver cells not caused by alcohol. Elevated transaminase levels are common indicators of liver disease, including NAFLD. Previously, we demonstrated that PNPLA3 (rs738409), LYPLAL1 (rs12137855), PPP1R3B (rs4240624), and GCKR (rs780094) are associated with elevated transaminase levels in overweight/obese Mexican adults. We investigated the association between 288 SNPs identified in genome-wide association studies and risk of elevated transaminase levels in an admixed Mexican-Mestizo sample of 178 cases of NAFLD and 454 healthy controls. The rs2896019, rs12483959, and rs3810622 SNPs in PNPLA3 and rs1227756 in COL13A1 were associated with elevated alanine aminotransferase (ALT, ≥40 IU/L). A polygenic risk score (PRS) based on six SNPs in the ADIPOQ, COL13A1, PNPLA3, and SAMM50 genes was also associated with elevated ALT. Individuals carrying 9–12 risk alleles had 65.8% and 48.5% higher ALT and aspartate aminotransferase (AST) levels, respectively, than those with 1–4 risk alleles. The PRS showed the greatest risk of elevated ALT levels, with a higher level of significance than the individual variants. Our findings suggest a significant association between variants in COL13A1, ADIPOQ, SAMM50, and PNPLA3, and risk of NAFLD/elevated transaminase levels in Mexican adults with an admixed ancestry. This is the first study to examine high-density single nucleotide screening for genetic variations in a Mexican-Mestizo population. The extent of the effect of these variations on the development and progression of NAFLD in Latino populations requires further analysis.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Genetic variants in COL13A1, ADIPOQ and SAMM50 , in addition to the PNPLA3 gene, confer susceptibility to elevated transaminase levels in an admixed Mexican population

Larrieta‐Carrasco

Flores

Macías-Kauffer

et al. 2018

Experimental and Molecular Pathology

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“…Further, polymorphisms of adiponectin gene have been shown to be associated with severity of liver disease in Asian Indians with NAFLD 50 . In a genomewide association study from South India, Kanth et al 51 recruited 306 subjects and reported that sorting and assembly machinery of the mitochondria 50 (SAMM50), parvin beta (PARVB) and pregnancy zone protein (PZP) genes, in addition to PNPLA3 gene were significantly associated with NAFLD.…”

Section: Other Determinants/correlates Of Nafld In Asian Indiansmentioning

confidence: 99%

Non-Alcoholic Fatty Liver Disease in Asian Indians:Relationship With Insulin Resistance, Diabetes and Cardiovascular Risk

2017

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Prevalence of non-alcoholic fatty liver disease (NAFLD) varies in India; up to one-third of the urban population is affected by the disease. In Asian Indians, presence of NAFLD is driven by multiple factorspresence of excess abdominal fat (abdominal subcutaneous and intra-abdominal fat) and lifestyle factors (imbalanced diets and physical inactivity), and it is correlated closely with insulin resistance, the metabolic syndrome and dysglycaemia in the background of genetic predisposition (investigated genes in Asian Indians: APOC3, PNPLA-3, PPAR, SREBP-2, adiponectin, SAMM50, PARVB and PZP). Recent studies also show that presence of NAFLD independently correlates with subclinical inflammation and surrogate markers of atherosclerosis (carotid intima-media thickness, impaired flow-mediated vasodilatation) in Asian Indians. A prediction equation (Indian Fatty Liver Index) which includes simple measures has been developed for Asian Indians. On the other hand, increased (more than 15.6 cm) liver span (surrogate marker of fatty liver), in a preliminary study, predicted diabetes in non-obese Asian Indians. Dietary factors are important for the development of NAFLD, and some evidence indicates that regular use of high monounsaturated fatty acid rich oils, and low amount of saturated fat intake are beneficial.

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Association of metabolic syndrome and patatin‐like phospholipase 3 – rs738409 gene variant in non‐alcoholic fatty liver disease among a Chennai‐based south Indian population

Narayanasamy

Rajendran

Panneerselvam

et al. 2020

The Journal of Gene Medicine

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Background Non‐alcoholic fatty liver disease (NAFLD) is commonly diagnosed in patients presenting with metabolic syndrome (MetS) and has been associated with single nucleotide polymorphisms of rs738409 in the patatin‐like phospholipase domain containing 3 (PNPLA3) gene. This association remains to be investigated in the South Indian population. We aimed to determine the association of the PNPLA3 rs738409 gene polymorphism with MetS and NAFLD among a Chennai‐based population. Methods The study comprised 105 NAFLD cases and 102 controls. All subjects were genotyped for the PNPLA3 rs738409 variant and MetS was defined according to the National Cholesterol Education Program – Adult Treatment Panel III criteria. Our case–control study showed the association of the variant with NAFLD and MetS. Results The PNPLA3 rs738409 variant was associated with NAFLD and the genotype frequencies (CC/CG/GG) were 19 (18.1%), 50 (47.6%) and 36 (34.3%) in the NAFLD group and 59 (57.8%), 29 (28.4%) and 14 (13.7%) in the control group respectively. We also confirmed the interaction between the PNPLA3 rs738409 polymorphism and MetS with respect tto elevated triglyceride levels. However, an association with elevated waist circumference, fasting glucose, blood pressure and decreased high‐density lipoprotein cholesterol was not observed in the present study. Conclusions The PNPLA3 rs738409 gene polymorphism increases the risk of NAFLD by up to four‐fold in subjects with an elevated level of triglyceride independent of other features of MetS.

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Pooled genetic analysis in ultrasound measured non-alcoholic fatty liver disease in Indian subjects: A pilot study

Abstract: Pooled genetic analysis revealed an association of SNPs in PNPLA3, PARVB, SAMM50 and PZP genes with NAFLD. SNPs in NCAN and PNPLA3 gene were associated with higher levels of ALT, whereas variant SNPs in APOC3, PNPLA3, EFCAB4B and COL13A1 were associated with high triglyceride levels.

Cited by 30 publications

References 24 publications

Genetic variants in COL13A1, ADIPOQ and SAMM50 , in addition to the PNPLA3 gene, confer susceptibility to elevated transaminase levels in an admixed Mexican population

Genetic variants in COL13A1, ADIPOQ and SAMM50 , in addition to the PNPLA3 gene, confer susceptibility to elevated transaminase levels in an admixed Mexican population

Non-Alcoholic Fatty Liver Disease in Asian Indians:Relationship With Insulin Resistance, Diabetes and Cardiovascular Risk

Association of metabolic syndrome and patatin‐like phospholipase 3 – rs738409 gene variant in non‐alcoholic fatty liver disease among a Chennai‐based south Indian population

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