Genetic variation
rs738409
Overview
SNPs are specific locations in the DNA where genetic variations can occur. Every person has a unique composition of variations.
SNP rs738409 is located on chromosome 22. The most common variation at this position is the C. People with other variations might have letter G instead.
Since humans have each twice (one from each parent), these letter-variations occur on both chromosomes. People can have the same or different letters on both chromosomes. Every person's individual variation assembly is referred to as genotype. For SNP rs738409 there are 3 currently known genotypes: C/G , C/C or G/G
Genome Browser
This interactive browser visualizes what no human can see with the naked eye - our DNA. From a down to a specific position on a . The position you are looking at here is the exact location of SNP rs738409. Explore more SNPs and their effects on the body by browsing left and right along the DNA strand.
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Mitochondrial DNAEffects relating to rs738409
Your genetic code influences you in many ways. This may be by either causing you to have a specific trait (eg. Eye colour) or your risk of developing a specific disease.
Each combination of genetic letters (called bases) is called a genotype for this specific SNP. Each Genotype can have a different effect on your body. The table below shows which genotype causes which traits or disease risks.
Current research shows 8 disease risks associated with rs738409. The following table shows the relationship between genotype and .
Genotype
| Effect | Likelihood | Level of evidence | Research |
|---|---|---|---|
| Non-alcoholic steatohepatitis (NASH) | 4.44x | ||
Genetic Polymorphisms of the Human PNPLA3 Gene Are Strongly Associated with Severity of Non-Alcoholic Fatty Liver Disease in Japanese Text Extract:In addition, there were marked differences in rs738409 genotype distributions between type4 subgroup corresponding to NASH and the other three subgroups (p=4.8106, OR=1.96, 95%CI: 1.472.62) PMCID: PMCID3375283 Association Between Patatin-Like Phospholipase Domain Containing 3 Gene (PNPLA3) Polymorphisms and Nonalcoholic Fatty Liver Disease: A HuGE Review and Meta-Analysis (2015) Xu, Renfan, Tao, Anyu, Zhang, Shasha, Deng, Youbin, Chen, Guangzhi Text Extract:In addition, evidence indicated that the rs738409 polymorphism was significantly associated with NASH in all genetic models (additive model: OR = 4.44, 95% CI = 3.395.82; P < 0.00001) PMCID: PMCID4366950 | |||
| Non-alcoholic fatty liver disease (NAFLD) | 4.42x | ||
Association Between Patatin-Like Phospholipase Domain Containing 3 Gene (PNPLA3) Polymorphisms and Nonalcoholic Fatty Liver Disease: A HuGE Review and Meta-Analysis (2015) Xu, Renfan, Tao, Anyu, Zhang, Shasha, Deng, Youbin, Chen, Guangzhi Text Extract:The combined results showed a significant association between NAFLD risk and the rs738409 polymorphism in all genetic models (additive model: OR = 3.41, 95% CI = 2.574.52; P < 0.00001) PMCID: PMCID4366950 Evaluation of Polygenic Determinants of Non-Alcoholic Fatty Liver Disease (NAFLD) By a Candidate Genes Resequencing Strategy (2018) Di Costanzo, Alessia, Belardinilli, Francesca, Bailetti, Diego, Sponziello, Marialuisa, D’Erasmo, Laura, Polimeni, Licia, Baratta, Francesco, Pastori, Daniele, Ceci, Fabrizio, Montali, Anna, Girelli, Gabriella, De Masi, Bruna, Angeloni, Antonio, Giannini, Giuseppe, Del Ben, Maria, Angelico, Francesco, Arca, Marcello Text Extract:When these 4 NAFLD-associated variants were tested together, they explained, overall, about 7% of the genetic risk of NAFLD and the rs738409 in PNPLA3 ranked as the strongest predictor (OR=3.12, 95% CI, 1.8-5.5, P<0.001) when adjusted for conventional risk factors (Table3) PMCID: PMCID5829219 GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network (2019) Text Extract:As expected, a higher effect size for rs738409 at PNPLA3 was obtained when only NAFLD plus presence of cirrhosis were compared with healthy controls (OR=2.0, 95% CI 1.382.86, p=0.0001) PMCID: PMCID6636057 Association of glucokinase regulatory gene polymorphisms with risk and severity of non-alcoholic fatty liver disease: an interaction study with adiponutrin gene. (2015) Tan, Hwa-Li, Zain, Shamsul Mohd, Mohamed, Rosmawati, Rampal, Sanjay, Chin, Kin-Fah, Basu, Roma Choudhury, Cheah, Phaik-Leng, Mahadeva, Sanjiv, Mohamed, Zahurin Text Extract:The joint effect of GCKR with adiponutrin rs738409 indicated greatly increased the risk of NAFLD (OR 4.14, 95 % CI 1.41-12.18, p = 0.010) PMID: PMID23800943 More Evidence for the Genetic Susceptibility of Mexican Population to Nonalcoholic Fatty Liver Disease through PNPLA3. (2019) Chinchilla-López, Paulina, Ramírez-Pérez, Oscar, Cruz-Ramón, Vania, Canizales-Quinteros, Samuel, Domínguez-López, Aarón, Ponciano-Rodríguez, Guadalupe, Sánchez-Muñoz, Fausto, Méndez-Sánchez, Nahum Text Extract:Anthropometric, metabolic, and biochemical variables were measured, and rs738409 (Ile148Met substitution) polymorphism was genotyped by sequencing.Logistic regression analysis, using a recessive model, suggested that PNPLA3 polymorphism in Mexican population is significantly associated (OR = 1.711, 95% CI: 1.014-2.886; P = 0.044) with NAFLD.The PNPLA3 gene is associated with NAFLD in Mexican population PMID: PMID29469042 Association between steatohepatitis biomarkers and hepatocellular carcinoma after hepatitis C elimination. (2020) Ogawa, Eiichi, Takayama, Koji, Hiramine, Satoshi, Hayashi, Takeo, Toyoda, Kazuhiro Text Extract:After adjusting for variables, including age, albumin, alpha-fetoprotein, the patatin-like phospholipase domain-containing the 3 (PNPLA3) rs738409 genotype, and pw12 fibrosis markers with FIB-4, non-alcoholic fatty liver disease fibrosis score, and LSM, FAST score ≥ 0.35 was associated with the development of HCC (adjusted HR 4.42, 95% CI 1.02-19.9, P = 0.043).Steatohepatitis-related biomarkers with the FAST score are helpful for predicting the development of HCC after HCV elimination.© 2020 John Wiley & Sons Ltd PMID: PMID32697871 | |||
| Alcoholic hepatitis (AH) | 1.89x | ||
Effects of Age, Sex, Body Weight, and Quantity of Alcohol Consumption on Occurrence and Severity of Alcoholic Hepatitis (2016) Liangpunsakul, Suthat, Puri, Puneet, Shah, Vijay, Kamath, Patrick, Sanyal, Arun, Urban, Thomas, Ren, Xiaowei, Katz, Barry, Radaeva, Svetlana, Chalasani, Naga, Crabb, David W. Text Extract:When we analyzed cases and controls of European ancestry, the PNPLA3 single nucleotide polymorphism rs738409 was associated with risk for AH (odds ratio, 1.89; P=.007) PMCID: PMCID5108670 | |||
| Alcoholic cirrhosis | 1.90x | ||
An Exploratory Genome-Wide Analysis of Genetic Risk for Alcoholic Hepatitis (2018) Text Extract:Although no single variant reached genome-wide significance, an association signal was observed for PNPLA3 rs738409 (p = 0.01, OR 1.9, 95% CI 1.1 3.1), a common single nucleotide polymorphism that has been associated with a variety of liver-related pathologies including alcoholic cirrhosis PMCID: PMCID5773288 | |||
| Mine dust lung diseases | 1.23x | ||
Metabolic dysfunction-related liver disease as a risk factor for cancer Taylor, Alasdair, Siddiqui, Moneeza K, Ambery, Philip, Armisen, Javier, Challis, Benjamin G, Haefliger, Carolina, Pearson, Ewan R, Doney, Alex S F, Dillon, John F, Palmer, Colin N A Text Extract:In a logistic regression (LR) with an additive model, adjusted for age and sex, PNPLA3 rs738409 was associated with increased MDLD at the beginning of the study (OR=1.23 (1.121.36), p<0.0001) PMCID: PMCID8961105 | |||
| Cancer | 1.27x | ||
Metabolic dysfunction-related liver disease as a risk factor for cancer Taylor, Alasdair, Siddiqui, Moneeza K, Ambery, Philip, Armisen, Javier, Challis, Benjamin G, Haefliger, Carolina, Pearson, Ewan R, Doney, Alex S F, Dillon, John F, Palmer, Colin N A Text Extract:Homozygous carriers of PNPLA3 rs738409 had increased risk of cancer incidence (HR=1.27 (1.02 to 1.58), p=3.1102) PMCID: PMCID8961105 | |||
| Liver cancer | 1.26x | ||
Metabolic dysfunction-related liver disease as a risk factor for cancer Taylor, Alasdair, Siddiqui, Moneeza K, Ambery, Philip, Armisen, Javier, Challis, Benjamin G, Haefliger, Carolina, Pearson, Ewan R, Doney, Alex S F, Dillon, John F, Palmer, Colin N A Text Extract:This association was also observed in GoDARTS when patients with liver cancer were excluded from analysis, as PNPLA3 rs738409 has been shown to increase liver cancer risk38 (HR=1.26 (1.01 to 1.58), p=3.8102) PMCID: PMCID8961105 | |||
| Cirrhosis | 2.08x | ||
Common polymorphism in the PNPLA3/adiponutrin gene confers higher risk of cirrhosis and liver damage in alcoholic liver disease. (2011) Trépo, Eric, Gustot, Thierry, Degré, Delphine, Lemmers, Arnaud, Verset, Laurine, Demetter, Pieter, Ouziel, Romy, Quertinmont, Eric, Vercruysse, Vincent, Amininejad, Leila, Deltenre, Pierre, Le Moine, Olivier, Devière, Jacques, Franchimont, Denis, Moreno, Christophe Text Extract:In multivariate analysis, rs738409 remained the strongest independent factor associated with risk of cirrhosis (OR = 2.08; 95% CI = 1.15-3.77; p = 0.02) PMID: PMID21334404 | |||
Genotype
| Effect | Likelihood | Level of evidence | Research |
|---|---|---|---|
| Non-alcoholic steatohepatitis (NASH) | 1.00x | ||
Genetic Polymorphisms of the Human PNPLA3 Gene Are Strongly Associated with Severity of Non-Alcoholic Fatty Liver Disease in Japanese Text Extract:In addition, there were marked differences in rs738409 genotype distributions between type4 subgroup corresponding to NASH and the other three subgroups (p=4.8106, OR=1.96, 95%CI: 1.472.62) PMCID: PMCID3375283 Association Between Patatin-Like Phospholipase Domain Containing 3 Gene (PNPLA3) Polymorphisms and Nonalcoholic Fatty Liver Disease: A HuGE Review and Meta-Analysis (2015) Xu, Renfan, Tao, Anyu, Zhang, Shasha, Deng, Youbin, Chen, Guangzhi Text Extract:In addition, evidence indicated that the rs738409 polymorphism was significantly associated with NASH in all genetic models (additive model: OR = 4.44, 95% CI = 3.395.82; P < 0.00001) PMCID: PMCID4366950 | |||
| Non-alcoholic fatty liver disease (NAFLD) | 1.00x | ||
Association Between Patatin-Like Phospholipase Domain Containing 3 Gene (PNPLA3) Polymorphisms and Nonalcoholic Fatty Liver Disease: A HuGE Review and Meta-Analysis (2015) Xu, Renfan, Tao, Anyu, Zhang, Shasha, Deng, Youbin, Chen, Guangzhi Text Extract:The combined results showed a significant association between NAFLD risk and the rs738409 polymorphism in all genetic models (additive model: OR = 3.41, 95% CI = 2.574.52; P < 0.00001) PMCID: PMCID4366950 Evaluation of Polygenic Determinants of Non-Alcoholic Fatty Liver Disease (NAFLD) By a Candidate Genes Resequencing Strategy (2018) Di Costanzo, Alessia, Belardinilli, Francesca, Bailetti, Diego, Sponziello, Marialuisa, D’Erasmo, Laura, Polimeni, Licia, Baratta, Francesco, Pastori, Daniele, Ceci, Fabrizio, Montali, Anna, Girelli, Gabriella, De Masi, Bruna, Angeloni, Antonio, Giannini, Giuseppe, Del Ben, Maria, Angelico, Francesco, Arca, Marcello Text Extract:When these 4 NAFLD-associated variants were tested together, they explained, overall, about 7% of the genetic risk of NAFLD and the rs738409 in PNPLA3 ranked as the strongest predictor (OR=3.12, 95% CI, 1.8-5.5, P<0.001) when adjusted for conventional risk factors (Table3) PMCID: PMCID5829219 GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network (2019) Text Extract:As expected, a higher effect size for rs738409 at PNPLA3 was obtained when only NAFLD plus presence of cirrhosis were compared with healthy controls (OR=2.0, 95% CI 1.382.86, p=0.0001) PMCID: PMCID6636057 Association of glucokinase regulatory gene polymorphisms with risk and severity of non-alcoholic fatty liver disease: an interaction study with adiponutrin gene. (2015) Tan, Hwa-Li, Zain, Shamsul Mohd, Mohamed, Rosmawati, Rampal, Sanjay, Chin, Kin-Fah, Basu, Roma Choudhury, Cheah, Phaik-Leng, Mahadeva, Sanjiv, Mohamed, Zahurin Text Extract:The joint effect of GCKR with adiponutrin rs738409 indicated greatly increased the risk of NAFLD (OR 4.14, 95 % CI 1.41-12.18, p = 0.010) PMID: PMID23800943 More Evidence for the Genetic Susceptibility of Mexican Population to Nonalcoholic Fatty Liver Disease through PNPLA3. (2019) Chinchilla-López, Paulina, Ramírez-Pérez, Oscar, Cruz-Ramón, Vania, Canizales-Quinteros, Samuel, Domínguez-López, Aarón, Ponciano-Rodríguez, Guadalupe, Sánchez-Muñoz, Fausto, Méndez-Sánchez, Nahum Text Extract:Anthropometric, metabolic, and biochemical variables were measured, and rs738409 (Ile148Met substitution) polymorphism was genotyped by sequencing.Logistic regression analysis, using a recessive model, suggested that PNPLA3 polymorphism in Mexican population is significantly associated (OR = 1.711, 95% CI: 1.014-2.886; P = 0.044) with NAFLD.The PNPLA3 gene is associated with NAFLD in Mexican population PMID: PMID29469042 Association between steatohepatitis biomarkers and hepatocellular carcinoma after hepatitis C elimination. (2020) Ogawa, Eiichi, Takayama, Koji, Hiramine, Satoshi, Hayashi, Takeo, Toyoda, Kazuhiro Text Extract:After adjusting for variables, including age, albumin, alpha-fetoprotein, the patatin-like phospholipase domain-containing the 3 (PNPLA3) rs738409 genotype, and pw12 fibrosis markers with FIB-4, non-alcoholic fatty liver disease fibrosis score, and LSM, FAST score ≥ 0.35 was associated with the development of HCC (adjusted HR 4.42, 95% CI 1.02-19.9, P = 0.043).Steatohepatitis-related biomarkers with the FAST score are helpful for predicting the development of HCC after HCV elimination.© 2020 John Wiley & Sons Ltd PMID: PMID32697871 | |||
| Alcoholic hepatitis (AH) | 1.00x | ||
Effects of Age, Sex, Body Weight, and Quantity of Alcohol Consumption on Occurrence and Severity of Alcoholic Hepatitis (2016) Liangpunsakul, Suthat, Puri, Puneet, Shah, Vijay, Kamath, Patrick, Sanyal, Arun, Urban, Thomas, Ren, Xiaowei, Katz, Barry, Radaeva, Svetlana, Chalasani, Naga, Crabb, David W. Text Extract:When we analyzed cases and controls of European ancestry, the PNPLA3 single nucleotide polymorphism rs738409 was associated with risk for AH (odds ratio, 1.89; P=.007) PMCID: PMCID5108670 | |||
| Alcoholic cirrhosis | 1.00x | ||
An Exploratory Genome-Wide Analysis of Genetic Risk for Alcoholic Hepatitis (2018) Text Extract:Although no single variant reached genome-wide significance, an association signal was observed for PNPLA3 rs738409 (p = 0.01, OR 1.9, 95% CI 1.1 3.1), a common single nucleotide polymorphism that has been associated with a variety of liver-related pathologies including alcoholic cirrhosis PMCID: PMCID5773288 | |||
| Mine dust lung diseases | 1.00x | ||
Metabolic dysfunction-related liver disease as a risk factor for cancer Taylor, Alasdair, Siddiqui, Moneeza K, Ambery, Philip, Armisen, Javier, Challis, Benjamin G, Haefliger, Carolina, Pearson, Ewan R, Doney, Alex S F, Dillon, John F, Palmer, Colin N A Text Extract:In a logistic regression (LR) with an additive model, adjusted for age and sex, PNPLA3 rs738409 was associated with increased MDLD at the beginning of the study (OR=1.23 (1.121.36), p<0.0001) PMCID: PMCID8961105 | |||
| Cancer | 1.00x | ||
Metabolic dysfunction-related liver disease as a risk factor for cancer Taylor, Alasdair, Siddiqui, Moneeza K, Ambery, Philip, Armisen, Javier, Challis, Benjamin G, Haefliger, Carolina, Pearson, Ewan R, Doney, Alex S F, Dillon, John F, Palmer, Colin N A Text Extract:Homozygous carriers of PNPLA3 rs738409 had increased risk of cancer incidence (HR=1.27 (1.02 to 1.58), p=3.1102) PMCID: PMCID8961105 | |||
| Liver cancer | 1.00x | ||
Metabolic dysfunction-related liver disease as a risk factor for cancer Taylor, Alasdair, Siddiqui, Moneeza K, Ambery, Philip, Armisen, Javier, Challis, Benjamin G, Haefliger, Carolina, Pearson, Ewan R, Doney, Alex S F, Dillon, John F, Palmer, Colin N A Text Extract:This association was also observed in GoDARTS when patients with liver cancer were excluded from analysis, as PNPLA3 rs738409 has been shown to increase liver cancer risk38 (HR=1.26 (1.01 to 1.58), p=3.8102) PMCID: PMCID8961105 | |||
| Cirrhosis | 1.00x | ||
Common polymorphism in the PNPLA3/adiponutrin gene confers higher risk of cirrhosis and liver damage in alcoholic liver disease. (2011) Trépo, Eric, Gustot, Thierry, Degré, Delphine, Lemmers, Arnaud, Verset, Laurine, Demetter, Pieter, Ouziel, Romy, Quertinmont, Eric, Vercruysse, Vincent, Amininejad, Leila, Deltenre, Pierre, Le Moine, Olivier, Devière, Jacques, Franchimont, Denis, Moreno, Christophe Text Extract:In multivariate analysis, rs738409 remained the strongest independent factor associated with risk of cirrhosis (OR = 2.08; 95% CI = 1.15-3.77; p = 0.02) PMID: PMID21334404 | |||
Genotype
| Effect | Likelihood | Level of evidence | Research |
|---|---|---|---|
| Non-alcoholic steatohepatitis (NASH) | 7.88x | ||
Genetic Polymorphisms of the Human PNPLA3 Gene Are Strongly Associated with Severity of Non-Alcoholic Fatty Liver Disease in Japanese Text Extract:In addition, there were marked differences in rs738409 genotype distributions between type4 subgroup corresponding to NASH and the other three subgroups (p=4.8106, OR=1.96, 95%CI: 1.472.62) PMCID: PMCID3375283 Association Between Patatin-Like Phospholipase Domain Containing 3 Gene (PNPLA3) Polymorphisms and Nonalcoholic Fatty Liver Disease: A HuGE Review and Meta-Analysis (2015) Xu, Renfan, Tao, Anyu, Zhang, Shasha, Deng, Youbin, Chen, Guangzhi Text Extract:In addition, evidence indicated that the rs738409 polymorphism was significantly associated with NASH in all genetic models (additive model: OR = 4.44, 95% CI = 3.395.82; P < 0.00001) PMCID: PMCID4366950 | |||
| Non-alcoholic fatty liver disease (NAFLD) | 7.84x | ||
Association Between Patatin-Like Phospholipase Domain Containing 3 Gene (PNPLA3) Polymorphisms and Nonalcoholic Fatty Liver Disease: A HuGE Review and Meta-Analysis (2015) Xu, Renfan, Tao, Anyu, Zhang, Shasha, Deng, Youbin, Chen, Guangzhi Text Extract:The combined results showed a significant association between NAFLD risk and the rs738409 polymorphism in all genetic models (additive model: OR = 3.41, 95% CI = 2.574.52; P < 0.00001) PMCID: PMCID4366950 Evaluation of Polygenic Determinants of Non-Alcoholic Fatty Liver Disease (NAFLD) By a Candidate Genes Resequencing Strategy (2018) Di Costanzo, Alessia, Belardinilli, Francesca, Bailetti, Diego, Sponziello, Marialuisa, D’Erasmo, Laura, Polimeni, Licia, Baratta, Francesco, Pastori, Daniele, Ceci, Fabrizio, Montali, Anna, Girelli, Gabriella, De Masi, Bruna, Angeloni, Antonio, Giannini, Giuseppe, Del Ben, Maria, Angelico, Francesco, Arca, Marcello Text Extract:When these 4 NAFLD-associated variants were tested together, they explained, overall, about 7% of the genetic risk of NAFLD and the rs738409 in PNPLA3 ranked as the strongest predictor (OR=3.12, 95% CI, 1.8-5.5, P<0.001) when adjusted for conventional risk factors (Table3) PMCID: PMCID5829219 GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network (2019) Text Extract:As expected, a higher effect size for rs738409 at PNPLA3 was obtained when only NAFLD plus presence of cirrhosis were compared with healthy controls (OR=2.0, 95% CI 1.382.86, p=0.0001) PMCID: PMCID6636057 Association of glucokinase regulatory gene polymorphisms with risk and severity of non-alcoholic fatty liver disease: an interaction study with adiponutrin gene. (2015) Tan, Hwa-Li, Zain, Shamsul Mohd, Mohamed, Rosmawati, Rampal, Sanjay, Chin, Kin-Fah, Basu, Roma Choudhury, Cheah, Phaik-Leng, Mahadeva, Sanjiv, Mohamed, Zahurin Text Extract:The joint effect of GCKR with adiponutrin rs738409 indicated greatly increased the risk of NAFLD (OR 4.14, 95 % CI 1.41-12.18, p = 0.010) PMID: PMID23800943 More Evidence for the Genetic Susceptibility of Mexican Population to Nonalcoholic Fatty Liver Disease through PNPLA3. (2019) Chinchilla-López, Paulina, Ramírez-Pérez, Oscar, Cruz-Ramón, Vania, Canizales-Quinteros, Samuel, Domínguez-López, Aarón, Ponciano-Rodríguez, Guadalupe, Sánchez-Muñoz, Fausto, Méndez-Sánchez, Nahum Text Extract:Anthropometric, metabolic, and biochemical variables were measured, and rs738409 (Ile148Met substitution) polymorphism was genotyped by sequencing.Logistic regression analysis, using a recessive model, suggested that PNPLA3 polymorphism in Mexican population is significantly associated (OR = 1.711, 95% CI: 1.014-2.886; P = 0.044) with NAFLD.The PNPLA3 gene is associated with NAFLD in Mexican population PMID: PMID29469042 Association between steatohepatitis biomarkers and hepatocellular carcinoma after hepatitis C elimination. (2020) Ogawa, Eiichi, Takayama, Koji, Hiramine, Satoshi, Hayashi, Takeo, Toyoda, Kazuhiro Text Extract:After adjusting for variables, including age, albumin, alpha-fetoprotein, the patatin-like phospholipase domain-containing the 3 (PNPLA3) rs738409 genotype, and pw12 fibrosis markers with FIB-4, non-alcoholic fatty liver disease fibrosis score, and LSM, FAST score ≥ 0.35 was associated with the development of HCC (adjusted HR 4.42, 95% CI 1.02-19.9, P = 0.043).Steatohepatitis-related biomarkers with the FAST score are helpful for predicting the development of HCC after HCV elimination.© 2020 John Wiley & Sons Ltd PMID: PMID32697871 | |||
| Alcoholic hepatitis (AH) | 2.78x | ||
Effects of Age, Sex, Body Weight, and Quantity of Alcohol Consumption on Occurrence and Severity of Alcoholic Hepatitis (2016) Liangpunsakul, Suthat, Puri, Puneet, Shah, Vijay, Kamath, Patrick, Sanyal, Arun, Urban, Thomas, Ren, Xiaowei, Katz, Barry, Radaeva, Svetlana, Chalasani, Naga, Crabb, David W. Text Extract:When we analyzed cases and controls of European ancestry, the PNPLA3 single nucleotide polymorphism rs738409 was associated with risk for AH (odds ratio, 1.89; P=.007) PMCID: PMCID5108670 | |||
| Alcoholic cirrhosis | 2.80x | ||
An Exploratory Genome-Wide Analysis of Genetic Risk for Alcoholic Hepatitis (2018) Text Extract:Although no single variant reached genome-wide significance, an association signal was observed for PNPLA3 rs738409 (p = 0.01, OR 1.9, 95% CI 1.1 3.1), a common single nucleotide polymorphism that has been associated with a variety of liver-related pathologies including alcoholic cirrhosis PMCID: PMCID5773288 | |||
| Mine dust lung diseases | 1.46x | ||
Metabolic dysfunction-related liver disease as a risk factor for cancer Taylor, Alasdair, Siddiqui, Moneeza K, Ambery, Philip, Armisen, Javier, Challis, Benjamin G, Haefliger, Carolina, Pearson, Ewan R, Doney, Alex S F, Dillon, John F, Palmer, Colin N A Text Extract:In a logistic regression (LR) with an additive model, adjusted for age and sex, PNPLA3 rs738409 was associated with increased MDLD at the beginning of the study (OR=1.23 (1.121.36), p<0.0001) PMCID: PMCID8961105 | |||
| Cancer | 1.54x | ||
Metabolic dysfunction-related liver disease as a risk factor for cancer Taylor, Alasdair, Siddiqui, Moneeza K, Ambery, Philip, Armisen, Javier, Challis, Benjamin G, Haefliger, Carolina, Pearson, Ewan R, Doney, Alex S F, Dillon, John F, Palmer, Colin N A Text Extract:Homozygous carriers of PNPLA3 rs738409 had increased risk of cancer incidence (HR=1.27 (1.02 to 1.58), p=3.1102) PMCID: PMCID8961105 | |||
| Liver cancer | 1.52x | ||
Metabolic dysfunction-related liver disease as a risk factor for cancer Taylor, Alasdair, Siddiqui, Moneeza K, Ambery, Philip, Armisen, Javier, Challis, Benjamin G, Haefliger, Carolina, Pearson, Ewan R, Doney, Alex S F, Dillon, John F, Palmer, Colin N A Text Extract:This association was also observed in GoDARTS when patients with liver cancer were excluded from analysis, as PNPLA3 rs738409 has been shown to increase liver cancer risk38 (HR=1.26 (1.01 to 1.58), p=3.8102) PMCID: PMCID8961105 | |||
| Cirrhosis | 3.16x | ||
Common polymorphism in the PNPLA3/adiponutrin gene confers higher risk of cirrhosis and liver damage in alcoholic liver disease. (2011) Trépo, Eric, Gustot, Thierry, Degré, Delphine, Lemmers, Arnaud, Verset, Laurine, Demetter, Pieter, Ouziel, Romy, Quertinmont, Eric, Vercruysse, Vincent, Amininejad, Leila, Deltenre, Pierre, Le Moine, Olivier, Devière, Jacques, Franchimont, Denis, Moreno, Christophe Text Extract:In multivariate analysis, rs738409 remained the strongest independent factor associated with risk of cirrhosis (OR = 2.08; 95% CI = 1.15-3.77; p = 0.02) PMID: PMID21334404 | |||
Distribution
Knowing your genome can actually tell you a lot about your ancestors.
The prevalence of the different genotypes is based on the native inhabitants of a region. In the map below you see how common each genotype is in the native inhabitants of those regions. Since genetic material is passed down form generation to generation, your DNA shows traces of the geographical origins of your ancestors.
This data is based on “The 1000 Genomes Project” which established one of the most detailed overviews of human genetic variations across the globe. The regions are broadly categorized into five continental groups: Africa, America, Europe, South Asia and East Asia. All continental groups together display the global prevalence. Click through the regions, to learn more about the local prevalence of the possible genotypes.
At present, there is no distribution data available for SNP rs738409.
Studies and sources
All of the resources below examine SNP rs738409
Genotype
Xu, Renfan, Tao, Anyu, Zhang, Shasha, Deng, Youbin, Chen, Guangzhi
Di Costanzo, Alessia, Belardinilli, Francesca, Bailetti, Diego, Sponziello, Marialuisa, D’Erasmo, Laura, Polimeni, Licia, Baratta, Francesco, Pastori, Daniele, Ceci, Fabrizio, Montali, Anna, Girelli, Gabriella, De Masi, Bruna, Angeloni, Antonio, Giannini, Giuseppe, Del Ben, Maria, Angelico, Francesco, Arca, Marcello
Tan, Hwa-Li, Zain, Shamsul Mohd, Mohamed, Rosmawati, Rampal, Sanjay, Chin, Kin-Fah, Basu, Roma Choudhury, Cheah, Phaik-Leng, Mahadeva, Sanjiv, Mohamed, Zahurin
Chinchilla-López, Paulina, Ramírez-Pérez, Oscar, Cruz-Ramón, Vania, Canizales-Quinteros, Samuel, Domínguez-López, Aarón, Ponciano-Rodríguez, Guadalupe, Sánchez-Muñoz, Fausto, Méndez-Sánchez, Nahum
Ogawa, Eiichi, Takayama, Koji, Hiramine, Satoshi, Hayashi, Takeo, Toyoda, Kazuhiro
Liangpunsakul, Suthat, Puri, Puneet, Shah, Vijay, Kamath, Patrick, Sanyal, Arun, Urban, Thomas, Ren, Xiaowei, Katz, Barry, Radaeva, Svetlana, Chalasani, Naga, Crabb, David W.
Taylor, Alasdair, Siddiqui, Moneeza K, Ambery, Philip, Armisen, Javier, Challis, Benjamin G, Haefliger, Carolina, Pearson, Ewan R, Doney, Alex S F, Dillon, John F, Palmer, Colin N A
Trépo, Eric, Gustot, Thierry, Degré, Delphine, Lemmers, Arnaud, Verset, Laurine, Demetter, Pieter, Ouziel, Romy, Quertinmont, Eric, Vercruysse, Vincent, Amininejad, Leila, Deltenre, Pierre, Le Moine, Olivier, Devière, Jacques, Franchimont, Denis, Moreno, Christophe
Genotype
Xu, Renfan, Tao, Anyu, Zhang, Shasha, Deng, Youbin, Chen, Guangzhi
Di Costanzo, Alessia, Belardinilli, Francesca, Bailetti, Diego, Sponziello, Marialuisa, D’Erasmo, Laura, Polimeni, Licia, Baratta, Francesco, Pastori, Daniele, Ceci, Fabrizio, Montali, Anna, Girelli, Gabriella, De Masi, Bruna, Angeloni, Antonio, Giannini, Giuseppe, Del Ben, Maria, Angelico, Francesco, Arca, Marcello
Tan, Hwa-Li, Zain, Shamsul Mohd, Mohamed, Rosmawati, Rampal, Sanjay, Chin, Kin-Fah, Basu, Roma Choudhury, Cheah, Phaik-Leng, Mahadeva, Sanjiv, Mohamed, Zahurin
Chinchilla-López, Paulina, Ramírez-Pérez, Oscar, Cruz-Ramón, Vania, Canizales-Quinteros, Samuel, Domínguez-López, Aarón, Ponciano-Rodríguez, Guadalupe, Sánchez-Muñoz, Fausto, Méndez-Sánchez, Nahum
Ogawa, Eiichi, Takayama, Koji, Hiramine, Satoshi, Hayashi, Takeo, Toyoda, Kazuhiro
Liangpunsakul, Suthat, Puri, Puneet, Shah, Vijay, Kamath, Patrick, Sanyal, Arun, Urban, Thomas, Ren, Xiaowei, Katz, Barry, Radaeva, Svetlana, Chalasani, Naga, Crabb, David W.
Taylor, Alasdair, Siddiqui, Moneeza K, Ambery, Philip, Armisen, Javier, Challis, Benjamin G, Haefliger, Carolina, Pearson, Ewan R, Doney, Alex S F, Dillon, John F, Palmer, Colin N A
Trépo, Eric, Gustot, Thierry, Degré, Delphine, Lemmers, Arnaud, Verset, Laurine, Demetter, Pieter, Ouziel, Romy, Quertinmont, Eric, Vercruysse, Vincent, Amininejad, Leila, Deltenre, Pierre, Le Moine, Olivier, Devière, Jacques, Franchimont, Denis, Moreno, Christophe
Genotype
Xu, Renfan, Tao, Anyu, Zhang, Shasha, Deng, Youbin, Chen, Guangzhi
Di Costanzo, Alessia, Belardinilli, Francesca, Bailetti, Diego, Sponziello, Marialuisa, D’Erasmo, Laura, Polimeni, Licia, Baratta, Francesco, Pastori, Daniele, Ceci, Fabrizio, Montali, Anna, Girelli, Gabriella, De Masi, Bruna, Angeloni, Antonio, Giannini, Giuseppe, Del Ben, Maria, Angelico, Francesco, Arca, Marcello
Tan, Hwa-Li, Zain, Shamsul Mohd, Mohamed, Rosmawati, Rampal, Sanjay, Chin, Kin-Fah, Basu, Roma Choudhury, Cheah, Phaik-Leng, Mahadeva, Sanjiv, Mohamed, Zahurin
Chinchilla-López, Paulina, Ramírez-Pérez, Oscar, Cruz-Ramón, Vania, Canizales-Quinteros, Samuel, Domínguez-López, Aarón, Ponciano-Rodríguez, Guadalupe, Sánchez-Muñoz, Fausto, Méndez-Sánchez, Nahum
Ogawa, Eiichi, Takayama, Koji, Hiramine, Satoshi, Hayashi, Takeo, Toyoda, Kazuhiro
Liangpunsakul, Suthat, Puri, Puneet, Shah, Vijay, Kamath, Patrick, Sanyal, Arun, Urban, Thomas, Ren, Xiaowei, Katz, Barry, Radaeva, Svetlana, Chalasani, Naga, Crabb, David W.
Taylor, Alasdair, Siddiqui, Moneeza K, Ambery, Philip, Armisen, Javier, Challis, Benjamin G, Haefliger, Carolina, Pearson, Ewan R, Doney, Alex S F, Dillon, John F, Palmer, Colin N A
Trépo, Eric, Gustot, Thierry, Degré, Delphine, Lemmers, Arnaud, Verset, Laurine, Demetter, Pieter, Ouziel, Romy, Quertinmont, Eric, Vercruysse, Vincent, Amininejad, Leila, Deltenre, Pierre, Le Moine, Olivier, Devière, Jacques, Franchimont, Denis, Moreno, Christophe