Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606982
rs267606982
0.030 GeneticVariation BEFREE The study's objective was to assess the association between the PRSS1 R122H and N29I and the SPINK1 N34S mutations and acute pancreatitis (AP) and recurrent pancreatitis in Mexican pediatric patients. 22699143

2012

dbSNP: rs1223231582
rs1223231582
0.020 GeneticVariation BEFREE Patients bearing the N34S G allele exhibited a 10-fold increased risk of developing AP compared with controls, suggesting that the SPINK1 N34S mutation represents an etiologic risk factor for AP in our Mexican pediatric patients. 22699143

2012

dbSNP: rs111033566
rs111033566
0.010 GeneticVariation BEFREE The N34S and R122H mutations were detected using polymerase chain reaction-restriction fragment length polymorphism, and the N29I mutation was detected using allele-specific polymerase chain reaction in 92 pancreatitis patients (58 AP and 34 recurrent pancreatitis patients) and 144 controls. 22699143

2012

dbSNP: rs1800896
rs1800896
0.030 GeneticVariation BEFREE However, there were no significant associations between IL-1β (IL-1β +3954 C/T (rs1143634) and IL-1β -511 C/T (rs16944)), IL-6 (IL-6 -174 G/C (rs1800795) and IL-6 -634 C/G (rs1800796)) and IL-10 (IL-10 -1082 A/G (rs1800896), IL-10 -819 C/T (rs1800871) and IL-10 -592 C/A (rs1800872)) gene polymorphisms and AP risk. 24072654

2013

dbSNP: rs1143634
rs1143634
0.020 GeneticVariation BEFREE However, there were no significant associations between IL-1β (IL-1β +3954 C/T (rs1143634) and IL-1β -511 C/T (rs16944)), IL-6 (IL-6 -174 G/C (rs1800795) and IL-6 -634 C/G (rs1800796)) and IL-10 (IL-10 -1082 A/G (rs1800896), IL-10 -819 C/T (rs1800871) and IL-10 -592 C/A (rs1800872)) gene polymorphisms and AP risk. 24072654

2013

dbSNP: rs4073
rs4073
0.020 GeneticVariation BEFREE The results showed evidence for significant association between IL-8 -251 T/A (rs4073) polymorphism and AP risk, suggesting that IL-8 -251 A allele was associated with an increased risk of AP (for A allele vs. T allele: OR = 1.36, 95 % CI 1.05-1.76, p = 0.02; for A/A vs. T/T: OR = 2.28, 95 % CI 1.08-4.81, p = 0.03; for A/A+T/A vs. T/T: OR = 1.40, 95 % CI 1.11-1.77, p = 0.005). 24072654

2013

dbSNP: rs16944
rs16944
0.010 GeneticVariation BEFREE However, there were no significant associations between IL-1β (IL-1β +3954 C/T (rs1143634) and IL-1β -511 C/T (rs16944)), IL-6 (IL-6 -174 G/C (rs1800795) and IL-6 -634 C/G (rs1800796)) and IL-10 (IL-10 -1082 A/G (rs1800896), IL-10 -819 C/T (rs1800871) and IL-10 -592 C/A (rs1800872)) gene polymorphisms and AP risk. 24072654

2013

dbSNP: rs1800795
rs1800795
0.010 GeneticVariation BEFREE However, there were no significant associations between IL-1β (IL-1β +3954 C/T (rs1143634) and IL-1β -511 C/T (rs16944)), IL-6 (IL-6 -174 G/C (rs1800795) and IL-6 -634 C/G (rs1800796)) and IL-10 (IL-10 -1082 A/G (rs1800896), IL-10 -819 C/T (rs1800871) and IL-10 -592 C/A (rs1800872)) gene polymorphisms and AP risk. 24072654

2013

dbSNP: rs1800796
rs1800796
0.010 GeneticVariation BEFREE However, there were no significant associations between IL-1β (IL-1β +3954 C/T (rs1143634) and IL-1β -511 C/T (rs16944)), IL-6 (IL-6 -174 G/C (rs1800795) and IL-6 -634 C/G (rs1800796)) and IL-10 (IL-10 -1082 A/G (rs1800896), IL-10 -819 C/T (rs1800871) and IL-10 -592 C/A (rs1800872)) gene polymorphisms and AP risk. 24072654

2013

dbSNP: rs1800871
rs1800871
0.010 GeneticVariation BEFREE However, there were no significant associations between IL-1β (IL-1β +3954 C/T (rs1143634) and IL-1β -511 C/T (rs16944)), IL-6 (IL-6 -174 G/C (rs1800795) and IL-6 -634 C/G (rs1800796)) and IL-10 (IL-10 -1082 A/G (rs1800896), IL-10 -819 C/T (rs1800871) and IL-10 -592 C/A (rs1800872)) gene polymorphisms and AP risk. 24072654

2013

dbSNP: rs1800872
rs1800872
0.010 GeneticVariation BEFREE However, there were no significant associations between IL-1β (IL-1β +3954 C/T (rs1143634) and IL-1β -511 C/T (rs16944)), IL-6 (IL-6 -174 G/C (rs1800795) and IL-6 -634 C/G (rs1800796)) and IL-10 (IL-10 -1082 A/G (rs1800896), IL-10 -819 C/T (rs1800871) and IL-10 -592 C/A (rs1800872)) gene polymorphisms and AP risk. 24072654

2013

dbSNP: rs1451659304
rs1451659304
0.010 GeneticVariation BEFREE The data from this study showed that compound heterozygote mutations of A98T and L279V inactivate lipoprotein lipase enzymatic activity and contribute to severe HTG and acute pancreatitis in two Chinese patients. 24646025

2014

dbSNP: rs145657341
rs145657341
LPL
0.010 GeneticVariation BEFREE The data from this study showed that compound heterozygote mutations of A98T and L279V inactivate lipoprotein lipase enzymatic activity and contribute to severe HTG and acute pancreatitis in two Chinese patients. 24646025

2014

dbSNP: rs371282890
rs371282890
LPL
0.010 GeneticVariation BEFREE The data from this study showed that compound heterozygote mutations of A98T and L279V inactivate lipoprotein lipase enzymatic activity and contribute to severe HTG and acute pancreatitis in two Chinese patients. 24646025

2014

dbSNP: rs773891125
rs773891125
LPL
0.010 GeneticVariation BEFREE The data from this study showed that compound heterozygote mutations of A98T and L279V inactivate lipoprotein lipase enzymatic activity and contribute to severe HTG and acute pancreatitis in two Chinese patients. 24646025

2014

dbSNP: rs5707
rs5707
REN
0.010 GeneticVariation BEFREE The renin rs5707 G (rather than A) allele was associated with AP (P = 0.002), infected necrosis (P = 0.025) and mortality (P = 0.046). 24743610

2015

dbSNP: rs17107315
rs17107315
0.080 GeneticVariation BEFREE The p.N34S mutation in SPINK1 gene was found more frequently in patients with AP in the Indian population, irrespective of disease etiology and whether the disease was recurrent or not, and was associated with disease onset at an earlier age. 24844923

2014

dbSNP: rs4986790
rs4986790
0.030 GeneticVariation BEFREE Our current meta-analysis suggests that TLR4 Asp299Gly and Thr399Ile polymorphisms may not be risk factors to AP susceptibility. 24914392

2014

dbSNP: rs4986791
rs4986791
0.010 GeneticVariation BEFREE Our current meta-analysis suggests that TLR4 Asp299Gly and Thr399Ile polymorphisms may not be risk factors to AP susceptibility. 24914392

2014

dbSNP: rs5029924
rs5029924
0.010 GeneticVariation BEFREE Neither of these SNPs was associated with susceptibility to AP; however, acute pancreatitis patients who possessed the T allele of rs5029924 were more likely to experience systemic inflammatory response syndrome. 25050625

2014

dbSNP: rs5743795
rs5743795
0.010 GeneticVariation BEFREE In addition, TLR6 rs5743795 GG genotype patients had a lower risk for severe AP (GG OR, 0.909; P < 0.05). 25423559

2015

dbSNP: rs1143634
rs1143634
0.020 GeneticVariation BEFREE Multivariate regression analyses showed that subjects carrying the rs1143634 TT genotype had a significantly increased risk of acute pancreatitis, with an adjusted odds ratio (95% confidence interval) of 2.11 (1.03-4.51). 25730036

2015

dbSNP: rs17107315
rs17107315
0.080 GeneticVariation BEFREE Six children with severe acute pancreatitis had SPINK1 N34S mutations (25%, p<0.05), and 4 were homozygous. 25981744

2015

dbSNP: rs1223231582
rs1223231582
0.020 GeneticVariation BEFREE Six children with severe acute pancreatitis had SPINK1 N34S mutations (25%, p<0.05), and 4 were homozygous. 25981744

2015

dbSNP: rs17107315
rs17107315
0.080 GeneticVariation BEFREE Mutation p.N34S in SPINK1 may predispose patients to acute pancreatitis, especially in those abusing alcohol, and may promote a more severe course of the disease. 26100556

2015