The genetic factor plays a significant role in the development of obesity, by present time the association of hundreds genetic polymorphisms with the risk of this disease is established. However, the combined influence of genetic polymorphisms remains practically unstudied. We aimed to investigate the combined effect SNP rs9939609 (gene FTO) and rs4994 (gene ADRB3) polymorphisms on risk of obesity. A case-control study was conducted, including255 obese case (BMI>30 kg/m2) and 427 non obese controls (BMI<30 kg/m2). Genotyping was performed using allele-specific amplification, detection results in real time using TaqMan-probes complementary DNA polymorphic sites. It has been shown, that presence of one mutant allele of rs9939609 (gene FTO) and rs4994 (gene ADRB3) leads to statistically significant association with obesity. Presence of two mutant alleles in different polymorphic variants increases risk of obesity by 15%, presence of three mutant alleles - by 2.63 fold. The quantity surveyed, suffering obesity, increased depending on the number of mutant alleles in studied genetic polymorphisms. Presence of one or two mutant alleles in one polymorphic variant increased the number of patients with obesity by 13.4%, presence of two or three mutant alleles in different polymorphic variants -by 18-19%.
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Aging Clin Exp Res
January 2025
Department of Joint Surgery, HongHui Hospital, Xi'an Jiaotong University, Xi'an, Shaanxi, 710054, China.
Objective: Osteoarthritis (OA) represents a condition under the influence of central nervous system (CNS) regulatory mechanisms. This investigation aims to examine the causal association between viral infections of the central nervous system (VICNS) and inflammatory diseases of the central nervous system (IDCNS) and knee osteoarthritis (KOA) at the genetic level.
Methods: In this investigation, VICNS and IDCNS were considered as primary exposure variables, while KOA served as the primary outcome.
Anal Methods
January 2025
School of Pharmaceutical Sciences, Sun Yat-Sen University, Guangzhou, 510006, China.
CYP2C19 gene single nucleotide polymorphisms (SNPs) should be considered in the clinical use of clopidogrel as they have important guiding value for predicting the risk of bleeding and thrombosis after clopidogrel treatment. The CRISPR/Cas system is increasingly used for SNP detection owing to its single-nucleotide mismatch specificity. Simultaneous detection of multiple SNPs for rapid identification of the CYP2C19 genotype is important, but there is no method to detect a wide variety of CYP2C19 SNPs.
View Article and Find Full Text PDFBackground: As the prevalence of osteoporotic fractures increases, impacting the health of the aging population significantly, understanding the genetic link between chronic diseases such as primary biliary cholangitis (PBC) and osteoporosis (OP) is crucial. Despite existing research, the direct genetic relationship between these conditions remains unclear.
Materials And Methods: This study used a two-sample Mendelian randomization approach, drawing on the largest available genome-wide association studies.
Indian J Clin Biochem
January 2025
Department of Biology, Faculty of Basic Sciences, Kazerun Branch, Islamic Azad University, Kazerun, Iran.
The cystathionine beta-synthase (CBS) gene plays a critical role in numerous physiological processes, including cellular proliferation, bioenergetics, and redox balance, and has been implicated in many cancers, including breast and gastric cancers. Previous studies have suggested that VNTR polymorphism in intron 13 of the CBS gene may influence enzyme activity, as an increase in the number of repeats in this VNTR leads to a reduction in the activity of the CBS enzyme. In this case-control study, for the first time, we genotyped 107 patients with gastric cancer (and 111 healthy controls) and 138 patients with breast cancer (and 124 healthy controls) for the CBS VNTR polymorphism using PCR.
View Article and Find Full Text PDFIndian J Clin Biochem
January 2025
Multi-disciplinary Research Unit, Maulana Azad Medical College, New Delhi, India.
Single Nucleotide Polymorphisms (SNPs) have found it be associated with drug resistance in epilepsy. The purpose of this study was to determine the role of SCN1A gene polymorphism in developing drug resistance in idiopathic generalized epilepsy (IGE) patients, along with increased oxidative stress. The study was conducted at a tertiary care hospital in Delhi, India.
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