Distribution and genotype frequency of the C1431T and pro12ala polymorphisms of the peroxisome proliferator activator receptor gamma gene in an Iranian population.

BACKGROUND: Peroxisome proliferator activator receptor gamma (PPARγ) is a nuclear transcription factor regulating multiple genes involved in cell growth, differentiation, carbohydrate and lipid metabolism and energy production. Several genetic variations in the PPARγ gene have been identified to be associated with diabetes, obesity, dyslipidemia, insulin resistance, metabolic syndrome and coronary artery disease. The present study was designed to explore the distribution of two common single nucleotide polymorphisms of the PPARγ gene (C1431T and Pro12Ala) in an Iranian population. MATERIALS AND METHODS: Genotype frequencies for these two polymorphisms were compared for 160 healthy Iranian individuals with reports from other populations. The Genotyping was performed using real‑time polymerase chain reaction. RESULTS: The genotype distribution of the C1431T PPARγ polymorphism was 0.869 for the CC genotype, 0.119 for the CT genotype and 0.013 for uncommon TT genotype. Allelic frequencies were 0.93 for C and 0.07 for T allele respectively. For the Pro12Ala polymorphism of PPARγ gene, genotypic distributions and allelic frequencies were, 0.813 for CC, 0.181 for CG and 0.06 for GG and 0.903 for C and 0.097 for G respectively. Allelic and genotypic frequencies for both polymorphisms of PPARγ gene were in Hardy‑Weinberg equilibrium. CONCLUSIONS: Iran is a country with an ethnically diverse population and a comparison of allelic and genotypic frequencies of PPARγ C1431T and Pro12Ala polymorphisms between our population and others showed significant differences.

Relevance of ineffective esophageal motility with erosive and nonerosive gastroesophageal reflux disease.

INTRODUCTION: Ineffective esophageal motility (IEM) is a frequent finding in patients with gastroesophageal reflux disease (GERD). It is responsible for delayed acid clearance as it affects esophageal emptying and saliva transport. Since erosive GERD is a more severe disease than nonerosive GERD, it may be associated with IEM, which delays esophageal clearance. Objective : We investigated the role of IEM in patients with erosive and nonerosive GERD. METHODS: We enrolled 100 patients with heartburn and a primary diagnosis of GERD referred to the GI motility department of RCGLD of Shahid Beheshti University between January 2002 and January 2005. Based on endoscopic findings, the patients were classified into two groups of erosive GERD and nonerosive GERD. Manometry and 24-hour ambulatory pH-metry was performed in all patients. RESULTS: Seventy-seven patients completed the study: 31 (40.3%) with erosive GERD and 46 (59.7%) with nonerosive GERD. IEM was present in 38.7% of patients with erosive GERD and in 28.3% of those with nonerosive GERD (p=0.18). A low lower esophageal sphincter pressure was present in 45.2% of patients with erosive GERD, and in 45.7% of those with nonerosive GERD (p=0.97). Abnormal acid reflux was present in 32.3% and 41.3% of patients with erosive and nonerosive GERD, respectively (p=0.42). CONCLUSION: There was no difference in the prevalence of IEM between patients with erosive and nonerosive GERD. IEM could be an integral part of GERD and may not always be associated with mucosal injury.