1. We discovered 2029 SNPs at P < 5 ×10-8, and after clumping based on GERA genotypes information, there were 48 independent loci significantly associated with T2D (Supplementary Table 1). The most significant association in this meta-analysis was rs7903146 located at TCF7L2 in chromosome 10 (P=5.17 × 10-142), which was previously reported by many studies(5-9). Out of these 48 loci, we used a more stringent threshold and 3 loci (MBNL1, C5orf67 and HORMAD2-AS1) were newly identified at P < 1 × 10-8. Meta-analysis results of these 3 loci and in each individual cohort were shown in Table 1. Genome-wide P values of association results across all chromosomes were displayed in Figure 2. To get more about the loci information and provide fast visualization of meta-analysis results, we plotted locus zoom(10) of three novel loci (Supplementary Figure
Rheumatic or musculoskeletal conditions comprise over 150 diseases and syndromes. One condition called Osteoarthritis (OA) is the most common degenerative joint disease that affects the cartilage. In developed countries it ranks among the top ten for disabling diseases. It is associated with aging and affects the joints that have been continuously stressed throughout the years. This includes the knees, hips, fingers, and lower spine region. The condition presents itself as a loss in flexibility, stiffness, and a deep, achy pain. Treatment of this condition requires a variety of components to fit a person's needs, lifestyle, and health.
Osteoarthritis is a degenerative joint disease. It’s where flexible tissues in the end of the bones wear down. It mostly occurs in knees, hips, lower back, fingers, and the neck. In Osteoarthritis, the cartilage in the bone breaks down which causes pain, swelling, and problems in moving the joint. When it worsens over time, one can get spurs, where bones break down and develop growths. Even though this can occur in anyone, ones who are over the age of 65 will most likely get Osteoarthritis. Some risk factors will include the increasing of age, obesity, genes, weak joint muscles, previous joint injury, and the overuse of the joint in the body. Some related signs/symptoms can be swelling around a joint, stiff joint, and/or having a clicking sound
Jorde, L. B., Bamshad, M. J., White, R. L. and John C. Carey MD MPH Dr. (2006) Medical genetics updated edition for 2006 – 2007. 3rd edn. United States: Mosby.
An injury when excessive force is applied to a joint can cause the cartilage to tear, most commonly in the knee. Obesity is a significant factor; it places extra weight on all weight-bearing joints making the joint more vulnerable to injury. For every extra pound, you gain it adds three pounds of pressure on you knees and six pounds on your hips (). Inactivity can lead to weight gain, and you will have weaker muscles which help keep joints properly aligned. Other diseases that may result in OA are septic arthritis, Paget disease of the bone, diabetes mellitus just to name a few. A person may also carry genes that place them at risk. Warning signs of OA include stiffness in joint after sitting for an extended period or we you get out of bed. Swelling and tenderness in one or more joints Symptoms of OA are worse with activity, there may even be a gritty feeling or noise when the joint moves called
OA is a musculoskeletal disease that causes chronic joint pain and reduced physical functioning (Laba, brien, Fransen, & jan, 2013). Osteoarthritis (OA) is a non-inflammatory disorder of synovial joints that results in loss of hyaline cartilage and remodeling of surrounding bone. OA is the single most common joint disease, with an estimated prevalence of 60% in men and 70% in women later in life after the age of 65 years, affecting an estimated 40 million people in the United States (Goodman & Fuller, 2009). Women are more commonly affected after the age of 55, almost everyone has some symptoms by the age of 70 (Tan, Zahara, Colburn & Hawkins, 2013, p.78). Osteoarthritis can be described radiological, clinical, or subjective.
Osteoarthritis (OA) is a chronic condition that affects the joints leading to inflammation and joint degeneration. The disease prevalence has been proportionally rising over the past decades in relation to the growing older adult population and the epidemic of obesity (Haroyan et al., 2018). Moreover, it is the most common type of arthritis that cause significant physical, psychosocial, and financial impact on millions of lives.
deCode Genetics, partnered with Roche Holding of Basel, wants Iceland's genes to examine 25-35 common genetically linked diseases (Marshall 539). deCode has identified the genetic sequence responsible for essential tremor and has plans to study alcoholism, diabetes and schizophrenia, among
One of the most common arthritis, Osteoarthritis, a chronic condition related to deterioration of the joint cartilage, normally effects weight-bearing joints such as, (knees, feet, hips, lumbar vertebrae).Osteoarthritis, affecting more than 20 million people and is widespread in the united states more common towards females. Symptoms typically manifest its earliest in middle age and progress .Osteoarthritis related to aging (idiopathic) may be secondary to the wear and tear, as well as some abnormal initiating event (McCann, 2010). According to Ryan (2015), “There are currently around 8.5 million people with OA in the UK, three quarters of whom live in constant pain, and its prevalence is increasing as the population ages and obesity becomes
In the search for other systematic reviews thought the databases of PubMed, CINAHL, and Proquest Medical, there were many publications on the topic of long distance running and its relationship to osteoarthritis. The articles had to be narrowed down by using keywords along with specific inclusions and exclusions. After doing so, 15 articles that were most relevant to the topic were chosen. The initial finding based off the articles indicated that knee osteoarthritis in former marathon runners is not common. The studies also suggest that long distance running does not cause significant damage to the knee in healthy individuals. Other findings indicated that hip osteoarthritis is rising, especially in former marathon runners and in
The study recruited 1496 people. 148 of these participants had the outcome of interest (knee osteoarthritis). Within those having knee osteoarthritis 111 were women and 37 were men.
This includes genetic traits and weight. You are more likely to suffer from osteoarthritis if your siblings, parents, or grandparents have osteoarthritis. A woman is at a “higher risk of developing osteoarthritis if her mother, her aunt, or her grandmother suffered from it”(Laboratoires Expanscience). For over fifty years, it is believed that a strong genetic component to certain forms of osteoarthritis is present. A recent twin study showed a 65k% genetic influence on the development of osteoarthritis. A study found up to eight new gene variants that are linked to osteoarthritis. Three gene variants were marginally significant and five were significantly associated. “The challenge will be to connect the biology of these genes to the development and progression of osteoarthritis and to investigate the therapeutic potential of these pathways for disease prevention and treatment,” they wrote. Before the age of fifty-five more men tend to have osteoarthritis, but after the age of fifty-five females have been proven to more likely have osteoarthritis than men that are the same age. There are four factors of why women are proven to more likely have arthritis. These factors are biology, genetic predisposition, hormones, and obesity. Women’s bodies are designed to give birth so they are less stable. This causes them more prone to injury. Their tendons in the lower body are more elastic than men’s. Experts say that the female hormone
Osteoarthritis (OA) is a degenerative condition which mainly affects the knees and hips as a result of damaged articular cartilage in these areas (Adatia, Rainsford, & Kean, 2012 p.618). This is known to be exacerbated by diabetes, cardiovascular diseases, and age, which are known in this case study. In addition, the common manifestations of OA Ethel experiences include chronic pain, restricted ADLs, and reduced quality of life (Adatia, Rainsford, & Kean, 2012 p.617).
Currently, there is a study testing if test participants have an increased risk of developing AD and CVD through the ApoE4 allele. A method known as whole genome sequencing has been able to pinpoint the DNA sequence of a complete genome sequence in one go. There is another method called whole exome sequencing that specifically looks for parts of the genome that contribute to the sequencing of specific proteins, like Apolipoproteins for example. Using these two methods, researches can find new genes that contribute to or protect us from disease, especially CVD and AD. As of right now though, researches have only been able to find the loci (location) of the ApoE gene on the 19th chromosome. Because of these impressive methods and
In recent years, genome-wide association studies (GWAS) have successfully tagged thousands of disease- or trait-associated genetic loci. However, molecular mechanisms linking the locus to the disease phenotype often remain unclear. Moreover, for most complex diseases and traits, associations found in GWAS explain only a small proportion of the phenotypic variation (129, 130). For example, although 71 independent loci have been associated with Crohn 's Disease, they account for only 23% of the estimated heritability (131). GWAS of psychiatric diseases show an even less favorable picture. For instance, schizophrenia has an estimated heritability of 80% (132, 133), but observed genetic variants currently account for less than 1% of the variance (134). To bridge this gap between genotype and disease phenotype and to better understand the biological mechanisms and translational possibilities, the genotype-driven approach, aided with deep phenotyping, appears to be a more appealing and powerful strategy (135, 136). A limitation of this approach however, is that the disease pathologies are often tissue- or cell type-specific (137-141), and due to ethical and practical reasons, deep phenotyping analyses are often only feasible in easily available surrogate tissues such as blood, particularly in large population-based gene identification studies. The iPSC technologies discussed here in this chapter, along with new sequencing technologies, genome-wide assays, and comprehensive genome