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Genetics and exercise: an introduction
Published in Adam P. Sharples, James P. Morton, Henning Wackerhage, Molecular Exercise Physiology, 2022
Claude Bouchard, Henning Wackerhage
The main goal of this chapter is to explain how to identify DNA variants associated with sport and exercise traits. Are these variants common or rare, are they SNPs, INDELs or structural variants? Do they affect the level of gene transcription/expression or the amino acid sequence of the protein or both? How important are epigenetic mechanisms? There are two major types of studies that are commonly reported on these topics. First, there are genetic association studies where researchers seek to identify all DNA variants that are associated with a trait. Second, researchers perform mechanistic studies to determine whether a DNA variant is causally related to a trait and define its underlying biology. To do so, the gene associated with the DNA variant is experimentally manipulated to investigate its effects on the trait. We will now explain these two types of studies.
Aetiology of Head and Neck Cancer
Published in R James A England, Eamon Shamil, Rajeev Mathew, Manohar Bance, Pavol Surda, Jemy Jose, Omar Hilmi, Adam J Donne, Scott-Brown's Essential Otorhinolaryngology, 2022
There are three subtypes: World Health Organisation (WHO) type 1, keratinising squamous cell carcinoma; WHO type 2, non-keratinising (differentiated) carcinoma and WHO type 3, undifferentiated carcinoma. In North America, type 1 accounts for 68% of cases whereas in the Far East, types 2 and 3 account for 95% of cases. There is a genetic association, with different types of HLA types, and a familial association. The most important environmental factor is infection by Epstein-Barr virus (EBV).
The Meta-Analysis of Genetic Studies
Published in Christopher H. Schmid, Theo Stijnen, Ian R. White, Handbook of Meta-Analysis, 2020
Cosetta Minelli, John Thompson
Until ten years ago, the study of genetic association was dominated by candidate-gene studies designed to investigate the association between a few candidate genetic variants and a specific disease or trait, with the candidate variants selected based on a priori knowledge of their biological function (Kwon and Goate, 2000). Then, around 2007, the nature of genetic investigation changed when new technologies made it possible to perform genome-wide association studies (GWAS), in which very large numbers of variants from across the genome are studied simultaneously in a hypothesis-free design, that is with no hypothesized link with the outcome for any specific variant. One of the first GWAS was performed by the Wellcome Trust Case Control Consortium who investigated the associations between 500,000 genetic variants and seven diseases (Burton et al., 2007). Similar studies quickly followed and now it is routine to assess millions of variants on each participant.
Lower vitamin D levels and VDR FokI variants are associated with susceptibility to sepsis: a hospital-based case-control study
Published in Biomarkers, 2022
Xinyue Yang, Jin Ru, Zhengchao Li, Xingpeng Jiang, Chuming Fan
Vitamin D mediates its functions by binding to one member of the nuclear receptor superfamily termed as Vitamin D receptor (VDR). The expression of VDRs has been reported in a wide range of cells such as monocytes, neutrophils, platelets, macrophages, and dendric cells (Dowd et al.2013, Li et al.2002). VDR is coaded by the VDR gene located in the long arm of the 12th chromosome (13.11). Although several single nucleotide polymorphisms (SNPs) in the VDR gene have been identified, four functional SNPs (FokI, TaqI, BsmI, and ApaI) have been extensively studied in various genetic association studies. The studies on the link between common genetic variants and vulnerability to sepsis development is scant and contradictory. The VDR FokI TT genotype and allele T have been linked to neonatal Sepsis in Egyptian (Tayel et al.2018); however, no significant association of VDR polymorphisms (FokI, TaqI, BsmI, and ApaI) was observed in neonates of Odisha, India (Das et al.2016). Furthermore, the FokI CC genotype was related to the risk of Sepsis in Serbian adults (Zeljic et al.2017). To the best of our knowledge, no research has been conducted on the possibility of a connection between VDR common variants and susceptibility to sepsis manifestation in the Chinese population.
Association of IL-6 -174G > C Polymorphism with Susceptibility to Childhood Sepsis: A Systematic Review and Meta-Analysis
Published in Fetal and Pediatric Pathology, 2021
Farzad Ferdosian, Mohammad Hossein Jarahzadeh, Reza Bahrami, Zahra Nafei, Mohammadali Jafari, Ali Raee-Ezzabadi, Seyed Reza Mirjalili, Hossein Neamatzadeh
To date, the pathogenesis of sepsis has not yet been fully clarified [9]. Several risk factors such as postnatal age and parity are independent risk factors for neonatal sepsis have been recognized [34]. In recent years, numerous studies have revealed an association between the IL-6 -174 G > C polymorphism and pediatric sepsis. Notwithstanding, their findings remain inconclusive and controversial. Genetic association studies are powerful tools to identify populations who are at risk for certain diseases [35]. Thus, we performed this current meta-analysis to better assess any association between the IL-6 -174G > C polymorphism and risk of sepsis in pediatrics and infants. Pooled data indicated that there was no significant association between the IL-6 -174 G > C polymorphism and risk of sepsis in pediatrics and infants. To the best of our knowledge, our pooled ORs for first time revealed that there was a significant association in the Caucasian and African populations.
Cumulative Evidence for Association between IL-10 Polymorphisms and Kawasaki Disease Susceptibility: A Systematic Review and Meta-Analysis
Published in Fetal and Pediatric Pathology, 2021
Farzad Ferdosian, Seyed Alireza Dastgheib, Majid Morovati-Sharifabad, Mohammad Hosein Lookzadeh, Mahmood Noorishadkam, Seyed Reza Mirjalili, Mohammad Javad Akbarian-Bafghi, Hossein Neamatzadeh
IL-10 is an immunoregulatory cytokine and down-regulates the Th1 driven pro-inflammatory response. Studies have shown that dysregulation of IL-10 gene is correlated with an enhanced immunopathological response to infection as well as an increased risk for the development of many autoimmune and infectious diseases [29]. There are some epidemiological studies that assessed associations of IL-10 -1082 A > G, -819 T > C and -592A > C polymorphisms with risk of developing KD. These individual studies, however, showed conflicting results. Such inconsistency of the results may be attributed to small sample size, insufficient statistical power and ethnic diversity of the population. Meta-analysis is a statistical method of combining results across studies from literatures to resolve discrepancy in genetic association studies. Therefore, in this meta-analysis we have evaluated associations of IL-10 -1082 A > G, -819 T > C and -592A > C polymorphisms with risk of KD by combining data of all available case-control studies up to 20 September 2019.