The present study performed a retrospective observational study in order to investigate the relationship between the interleukin family gene polymorphisms and risk of multiple myeloma (MM), based on sixteen case-control studies that contained 2,597 patients with MM and 3,851 controls. The results demonstrated that the genotypes IL-6 and IL-1 GG increased the risk of MM by approximately 40.8 and 80.2% compared with the genotypes AA and CC [odds ratio (OR)=1.14, 95% confidence interval (CI), 0.88-1.47, and OR=1.16, 95% CI, 0.61-2.19; respectively]. The results also revealed a significant association between T:C polymorphism of the IL-6 and IL-10 and the risk of MM (TC/CC: OR=1.37, 95% CI, 0.88-2.16 and TT/CC: OR=1.26, 95% CI, 0.77-2.06, respectively). Additionally, no significant association was identified between the C:A polymorphisms of the IL-6 (rs8192284) and IL-10 (rs1800872) receptors and the overall risk of MM (P>0.05). G:C polymorphisms of the IL-1β1464G>C and IL-6572G>C significantly increased the risk of MM (P<0.05). However, it has been determined that there is a significant association between the C:T polymorphism of the IL-1α-889C>T and IL-1β-3737C>T and the risk of MM (P<0.001). Subgroup analysis revealed that the detection of G:A polymorphisms in the IL-6 promoter (OR=1.05, 95% CI, 0.78-1.44) is more accurate in MM samples of the Asian population (OR=1.24, 95% CI, 0.92-1.74). In addition, no significant association was identified between the IL gene polymorphisms in MM samples categorized by ethnicity and the IL family type (P=0.27). These single nucleotide polymorphism loci may be the appropriate gene markers for gene screening and a promising therapeutic strategy in the prognostics of patients with MM.
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http://dx.doi.org/10.3892/mco.2020.1979 | DOI Listing |
BMC Genomics
December 2024
Pathology and Biomedical Science Department, University of Otago Christchurch, Christchurch, New Zealand.
Background: Anorexia nervosa (AN) is a polygenic, severe metabopsychiatric disorder with poorly understood aetiology. Eight significant loci have been identified by genome-wide association studies (GWAS) and single nucleotide polymorphism (SNP)-based heritability was estimated to be ~ 11-17, yet causal variants remain elusive. It is therefore important to define the full spectrum of genetic variants in the wider regions surrounding these significantly associated loci.
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December 2024
Graduate Institute of Biomedical Sciences, China Medical University, Taichung, Taiwan, R.O.C.;
Background/aim: Hallux valgus (HV) is the most common deformity of the forefoot. Although HV has been strongly associated with a family history, its genetic underpinnings remain unclear. Few studies have examined the relationship between folic acid metabolism, which is critical in normal bone development, and HV.
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December 2024
Terry Fox Cancer Research Laboratory, Department of Medical Research, China Medical University Hospital, Taichung, Taiwan, R.O.C.;
Background/aim: Genetic polymorphisms in DNA repair mechanisms can modulate overall DNA repair capacity, potentially influencing individual susceptibility to cancer. This study investigated the relationship between polymorphic variations in DNA ligase 1 and the risk of childhood acute lymphocytic leukemia (cALL).
Materials And Methods: The genotypes of DNA ligase 1 rs20579 were determined using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis.
Brain Behav
January 2025
Department of Neurology, Sichuan Taikang Hospital, Chengdu, Sichuan, China.
Background: Previous studies have confirmed the significant role of cathepsins in the development of neurodegenerative diseases. We aimed to determine whether genetically predicted 10 cathepsins may have a causal effect on Alzheimer's disease (AD), Parkinson's disease (PD), and amyotrophic lateral sclerosis (ALS).
Methods: We conducted a two-sample bidirectional Mendelian randomization (MR) study using publicly available data from genome-wide association study (GWAS) to assess the causal associations between 10 cathepsins and three neurodegenerative diseases, including AD, PD, and ALS.
J Nutr
December 2024
Shenzhen International Graduate School, Tsinghua University, University Town of Shenzhen, Nanshan District, Shenzhen, 518055. Guangdong, China. Electronic address:
Background: Polymorphisms of the folate-associated one-carbon metabolism (OCM) pathway genes may regulate certain susceptibilities to cancer. G80A, a polymorphism in the reduced folate carrier (RFC) gene, may be associated with cancer risk, although the results obtained from previous studies have been inconsistent.
Objectives: The present study aimed to evaluate the association of G80A with lung cancer among a Chinese population, and to examine the potential effect modifiers.
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