Mutual Effect of NAT2 rs1799930 (590G>A) Polymorphism and Alcohol Abuse on Risk of Acute Pancreatitis

Aim. Estimation of the contribution of rs1799930 (590G>A) polymorphism of gene NAT2 to the development of acute alcoholic pancreatitis.Materials and methods. DNA samples were obtained from 547 unrelated patients with acute alcoholic pancreatitis and 573 unrelated individuals without gastrointestinal diseases. A survey selected individuals with the alcohol consumption of >200 g/week pure ethanol two times a week or more during 10 or more years. Genotyping was performed with PCR using TaqMan allelic discrimination assays.Results. No association was observed between the NAT2 allelic rs1799930 (590G>A) polymorphism, risk of acute alcoholic pancreatitis, duration and rate of alcohol consumption. The 590G>A variant of rs1799930 in gene NAT2 correlated with an increased risk of acute alcoholic pancreatitis (odds ratio 2.16; 95% confidence interval 1.13–4.12) under alcohol consumption >200 g/week pure ethanol.Conclusion. The rs1799930 G/A polymorphism of gene NAT2 increases the risk of acute pancreatitis under alcohol consumption >200 g/week pure ethanol.

Association between rs4149056 variant in SLCO1B1 and early discontinuation of statin after acute myocardial infarction

Data from two French surveys were used to analyze the association between in-hospital statin discontinuation and SLCO1B1 polymorphism (rs4149056) in patients with acute myocardial infarction. Using TaqMan allelic discrimination assay, 1674 and 1708 patients were genotyped for SLCO1B1 in 2005 and 2010, respectively. The association with in-hospital statin discontinuation was assessed after adjusting for confounding factors. In 2005, homozygosity for the reduced-function allele was associated with an increased risk of in-hospital statin discontinuation (OR: 3.68; p = 0.004) compared with the wild-type allele but this association disappeared in 2010. However, statin type and intensity-dose differed significantly between the surveys. SLCO1B1 polymorphism (rs4149056) does not seem to be a major determinant of early ‘in-hospital’ statin discontinuation after acute myocardial infarction.

The miRNA-608 rs4919510 G>C polymorphism confers reduce coronary injury of Kawasaki disease in a Southern Chinese population

Kawasaki disease (KD) is also called mucocutaneous lymph node syndrome and is an acute febrile pediatric disease characterized by systemic vasculitis. KD typically occurs in children 5 years old or younger and occurs more often in males than in females. miRNA-608 has been reported to interact with interleukin-6 and affect innate immunity. The immune-mediated inflammation could induce the occurrence of KD; however, there is no previous research focused on the relationship between miRNA-608 polymorphism and the KD risk. The present study explored the correlation between the miRNA-608 rs4919510 G>C polymorphism and the risk for KD. We recruited 532 patients with KD and 623 controls to genotype the miRNA-608 rs4919510 G>C polymorphism with a TaqMan allelic discrimination assay. Single-locus analysis showed no significant association between miRNA rs4919510 G>C polymorphism and KD susceptibility. However in an analysis stratified by age, gender, and coronary artery lesion (CAL), we found a relationship between the miRNA-608 rs4919510 G>C polymorphism and KD susceptibility. When KD patients were stratified by coronary injury, the CG/CC genotypes of the miRNA-608 rs4919510 G>C polymorphism contributed to a higher occurrence of KD than that was found in the GG genotype patients (adjusted odds ratio = 0.74, 95% CI = 0.56–0.98, P = 0.033). The present study demonstrated that the miRNA-608 rs4919510 G>C polymorphism may have a CAL-related relationship with KD susceptibility that has not been previously revealed.

Lack of association between miR-218 rs11134527 A>G and Kawasaki disease susceptibility

Kawasaki disease (KD) is a type of disease that includes the development of a fever that lasts at least 5 days and involves the clinical manifestation of multicellular vasculitis. KD has become one of the most common pediatric cardiovascular diseases. Previous studies have reported that miR-218 rs11134527 A>G is associated with susceptibility to various cancer risks. However, there is a lack of evidence regarding the relationship between this polymorphism and KD risk. The present study explored the correlation between the miR-218 rs11134527 A>G polymorphism and the risk of KD. We recruited 532 patients with KD and 623 controls to genotype the miR-218 rs11134527 A>G polymorphism with a TaqMan allelic discrimination assay. Our results illustrated that the miR-218 rs11134527 A>G polymorphism was not associated with KD risk. In an analysis stratified by age, sex, and coronary artery lesions, we found only that the risk of KD was significantly decreased for children older than 5 years (GG vs. AA/AG: adjusted OR = 0.26, 95% CI = 0.07–0.94, P=0.041). The present study demonstrated that the miR-218 rs1113452 A>G polymorphism may have an age-related relationship with KD susceptibility that has not previously been revealed.

The rs9932581 and rs1049255 Polymorphisms in CYBA is not Associated with Preeclampsia in Chinese Han Women

Background/Aims: Several lines of evidence have been reported that oxidative stress plays an important role in the pathogenesis of Preeclampsia (PE). Therefore, this research is aimed to investigate whether polymorphisms of CYBA are related to susceptibility to PE in Chinese Han women. Methods: We studied the genetic frequency of the rs9932581 and 1049255 polymorphisms in CYBA in 1029 PE patients and 1400 controls of later pregnant women by the TaqMan allelic discrimination real-time PCR and a case-control model. Results: Our research indicated that no significant differences were found for the genotypic or allelic frequencies at the two polymorphic sites in CYBA between PE patients and controls. To further study the relationship between the polymorphic sites and PE, we also found that there is no significant difference in the genetic distributions identified between the mild or severe PE and early or the late-onset PE and controls. Conclusion: The study demonstrated that the genetic variants of rs9932581 and rs1049255 in CYBA might not be associated with PE. However, investigations of genetic variability that influence on the disease outcome are needed in other large prospective populations or regions, so the complicated interconnection of genetic and environmental elements can be emulated for better understanding.