16 November 2015 : Clinical Research
Association Between DSCR1 Variations and Congenital Heart Disease Susceptibility
Ren Yu GuoABD, Xiao Feng LiBCD, Song BaiDEF, Jian GuoBE, Nan DingCD, Zhong Zhi LiCFGDOI: 10.12659/MSM.894830
Med Sci Monit 2015; 21:3536-3539
Abstract
BACKGROUND: The objective of this study was aimed to detect the association of Down syndrome critical region 1 (DSCR1) gene polymorphisms (rs149048873 and rs143081213) and congenital heart disease (CHD) susceptibility.
MATERIAL AND METHODS: This case-control study included 102 CHD patients and 113 healthy controls. Cases and controls were matched in age and gender. Genotypes of DSCR1 gene polymorphisms were detected by TaqMan method in cases and controls. Hardy-Weinberg equilibrium (HWE) examination was performed by PLINK 1.0 software. Chi square test was utilized to assess the distribution of the genotypes and the alleles. Relative risk of CHD was presented by odds ratios (ORs) with 95% confidence intervals (CIs). All of the calculations were implemented using SPSS 18.0.
RESULTS: Variant genotype distribution of rs149048873 and rs143081213 mutations were higher in cases than in controls, but the differences were not statistically obvious (P>0.05). Additionally, frequencies of mutant allele of the two polymorphisms were also significantly different in case and control groups (P>0.05).
CONCLUSIONS: No significant associations existed between DSCR1 gene rs149048873 and rs143081213 polymorphisms and CHD susceptibility.
Keywords: Asian Continental Ancestry Group - genetics, Alleles, Case-Control Studies, Child, Child, Preschool, Gene Frequency, Genetic Association Studies, Genetic Predisposition to Disease, Heart Defects, Congenital - genetics, Infant, Newborn, Intracellular Signaling Peptides and Proteins - genetics, Muscle Proteins - genetics, Mutation, Odds Ratio, Polymorphism, Single Nucleotide
Editorial
01 April 2024 : Editorial
Editorial: Forty Years of Waiting for Prevention and Cure of HIV Infection – Ongoing Challenges and Hopes for Vaccine Development and Overcoming Antiretroviral Drug ResistanceDOI: 10.12659/MSM.944600
Med Sci Monit 2024; 30:e944600
In Press
08 Mar 2024 : Laboratory Research
Evaluation of Retentive Strength of 50 Endodontically-Treated Single-Rooted Mandibular Second Premolars Res...Med Sci Monit In Press; DOI: 10.12659/MSM.944110
11 Mar 2024 : Clinical Research
Comparison of Effects of Sugammadex and Neostigmine on Postoperative Neuromuscular Blockade Recovery in Pat...Med Sci Monit In Press; DOI: 10.12659/MSM.942773
12 Mar 2024 : Clinical Research
Comparing Neuromuscular Blockade Measurement Between Upper Arm (TOF Cuff®) and Eyelid (TOF Scan®) Using Miv...Med Sci Monit In Press; DOI: 10.12659/MSM.943630
11 Mar 2024 : Clinical Research
Enhancement of Frozen-Thawed Human Sperm Quality with Zinc as a Cryoprotective AdditiveMed Sci Monit In Press; DOI: 10.12659/MSM.942946
Most Viewed Current Articles
17 Jan 2024 : Review article
Vaccination Guidelines for Pregnant Women: Addressing COVID-19 and the Omicron VariantDOI :10.12659/MSM.942799
Med Sci Monit 2024; 30:e942799
14 Dec 2022 : Clinical Research
Prevalence and Variability of Allergen-Specific Immunoglobulin E in Patients with Elevated Tryptase LevelsDOI :10.12659/MSM.937990
Med Sci Monit 2022; 28:e937990
16 May 2023 : Clinical Research
Electrophysiological Testing for an Auditory Processing Disorder and Reading Performance in 54 School Stude...DOI :10.12659/MSM.940387
Med Sci Monit 2023; 29:e940387
01 Jan 2022 : Editorial
Editorial: Current Status of Oral Antiviral Drug Treatments for SARS-CoV-2 Infection in Non-Hospitalized Pa...DOI :10.12659/MSM.935952
Med Sci Monit 2022; 28:e935952