ABSTRACT
Background The role of polymorphism of Angiotensin converting enzyme (ACE) gene and ACE activity in etiopathogenesis, prognosis, and many other clinical parameters in the various form of the cardiovascular disease has been established to some degree of certainty. The pathophysiology of Peripartum cardiomyopathy (PPCM) remains an area of active research. The main aim of our study was to see pattern of ACE- Insertion/Deletion (I/D) allele in PPCM and its implications on left ventricular performance indices. Methods This single-center case-control study included 45 cases and 70 controls. The diagnosis of PPCM was established clinically and echocardiographically. ACE genotyping was done by polymerase chain reaction (PCR) method in all subjects. Results The II, ID, and DD genotype was present in 16, 18 and 11 of subjects with PPCM and 48, 19 and 3 of controls respectively. The odds ratio for ACE-II genotype in cases vs. controls was 0.253 (95% CI = 0.114–0.558; p = 0.007), for that of II genotype was 1.93 (95% CI = 0.86–4.3; p = 0.107) and for DD genotype was 7.225 (95% CI; 1.88–27.6; p = 0.0039). Overall frequency of D allele in cases was significantly higher than controls (odds = 4.25; 95% CI = 2.01–6.7; p = 0.0001). Moreover, ejection fraction, left ventricular volume and linear dimensions were worse in patients with DD genotype. Conclusion ACE DD genotype and overall frequency of D allele is significantly higher in patients with PPCM. Also, the presence of DD genotype is associated with worse systolic performance indices measured echocardiographically.
ABSTRACT
Background: Inflammation may be one cause of nephrolithiasis and the interleukin-18 (IL-18) encoding gene polymorphisms at +105 A>C has been implicated in several inflammation related diseases. The aim of this study was to test whether IL-18+105 A>C polymorphisms could act as genetic marker for renal stone disease. A case-control study was conducted to observe the genotype distribution of IL-18+105 A>C, to elucidate the possible role of this SNP as risk factor in renal stone development and to examine its correlation with the clinico-pathologic variables. Methods: Using the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) technique, we tested the genotype distribution of 160 nephrolithiasis patients in comparison with 200 disease free controls from the same geographical region. Results: We observed significant differences of IL-18+105 A to C between the controls and patients with odds ratio 5.4 (P = 0.001). The prevalence of the variant genotypes AC + CC in the patients was higher than that in the controls (45% v/s 30%) and showed a significant association (P = 0.003). Moreover, the frequency per copy of the C allele of IL-18+105 A>C was found to be implicated more in patient group 0.27 as against only 0.16 in controls (P = 0.0003). Further, males and subjects with <45 years of age in patient group were significantly associated with variant genotype (P <0.05). Conclusion: Thus, it is evident from our study that IL-18+105 A>C is implicated in renal stone disease, and that the rare, C related allele is connected with higher susceptibility to nephrolithiasis.