OA has a complex pathology, with numerous environmental and genetic risk factors. Generally, OA is thought to be caused by a complex interaction between environmental and genetic factors (Valdes et al., 2009). A variety of epidemiological studies have demonstrated that genetic susceptibility is a key regulator of OA aetiology (Peach et al., 2005). Genetic variations may influence several OA risk factors, including obesity, skeletal shape, bone mass and synovitis (Valdes et al., 2011a). Furthermore, it has been shown that generalized OA phenotype, sensitivity to pain and disease progression may be also determined by genetic susceptibility (Valdes et al., 2010a; van Meurs et al., 2009; Kerkhof et al., 2010).
In the 1940s familial clustering
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OA is generally recognized as a complex multi-factor disease that has mostly small and modest effect susceptibility loci (Reynard et al., 2012). Over the past decade efforts have been focused on the search for loci that predispose to OA. The following approaches most often have been attempts to provide insight into the complexity of OA genetics: genetic linkage studies (LA), genome-wide association studies (GWAS) and candidate gene studies.
LA exploits the fact that genes have a tendency to be inherited together because they are located close to each other. After identification of a linkage, all genes in the linked region need to be identified and in this manner candidate genes of interest for a disease can be established. LA has been successful in localizing chromosomal regions containing highly penetrant genetic variants. However, in a common disease, such as OA, the success of LA is very limited for a number of reasons, including the low power of identification of genes with modest effects and the large impact of environmental influences (Risch et al., 1996).
After the completion of the Human Genome Sequencing project, which provided the opportunity to systematically search across the genome and to test large numbers of common genetic variants for association with disease, GWAS have been successfully applied to the study of many complex diseases. GWAS make it possible to examine the associations of thousands of
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.
The story of the Ten Commandments in the Bible is a story many know, but sometimes disregard its importance. While the Jews were wandering in the desert, God spoke to Moses and told him to go to the top of Mt. Sinai. Moses, without second-guessing, obeyed. When he got there, God gave him two stone tablets. Each tablet had a list of rules that would help keep the Jews from sinning.
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.
King Tut was a fascinating pharaoh at most. There isn’t much on who king Tut was or when he was born or how he died. But some people have dedicated there lives to find out who he was. He was born during the Golden Age. He became king a surprisingly young age. He achieved many things and had an important job. His death was and still is a mystery to most. It was said he wasn’t in his original tomb. But he was eventually found. King Tut became a Pharaoh at a really young age and he had many achievements but died at a relatively young age. (Hawass 29-56)
. . M, P. (2015, October 27). An Overview of Human Genetic Disorders with Special Reference to African Americans. Retrieved November 16, 2017, from https://www.omicsonline.org/open-access/an-overview-of-human-genetic-disorders-with-special-reference-to-africanamericans-2155-9821-1000e139.php?aid=63273
2. The authors studied this subject as it relates to a very prevalent medical diagnosis around the world, Adolescent idiopathic Scoliosis (AIS). This medical illness is the most common spinal deformity found in children from the age of 10 to the end of the pubertal growth spurt and can be very debilitating.1 The authors decided to study single nucleotide polymorphisms (SNP) and there effects on gene expression and protein regulation that may be linked to the disease because they had previously done a genome wide-association study where they identified two loci that were linked to AIS in a Japanese female population.1 This study was also replicated in Chinese and Caucasian ppulations.1 They knew they were on the right track that SNP’s and specific locations on the chromosome were linked to the disease and that they should look further into it. However, this link only explained an approximate 1% genetic variance in AIS and therefore the authors decided they should identify more susceptibility to genes and use a larger gene pool in their study. 1 They also conducted a whole genome imputation. 1
The etiology (cause of disease) of Osteoarthritis (OA) is due the events of primary osteoarthritis and secondary osteoarthritis Primary osteoarthritis (idiopathic) results due to natural aging of the joints. OA causes pain, swelling, and reduced motion in your joints. As you get older water content of cartilage increases and the protein makeup of cartilage will degenerate. Cartilage will begin
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).
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.
OI can be inherited by a dominant genetic defect (80-90 percent of OI cases), and by a recessive mutation (10-15 percent of OI cases). For a child to receive OI from a dominant genetic defect, then he needs only one copy of the mutation carrying gene from one of his parents. Also, if neither parent has OI the child may inherent it by a spontaneous mutation. For a child to receive OI from a recessive mutation, then he would have had to receive
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
In additament to hereditary factors (genes) and other forms of arthritis, several other risk factors increase the jeopardy for developing osteoarthritis, including other hereditary disorders, obesity, and injuries to or around the
Interoperability in healthcare involves the ability for various systems and devices to exchange and interpret data and display it in a user-friendly way. Interoperability is important in healthcare because it allows data to be shared across hospitals, pharmacies, labs, clinicians and patients, regardless of which vendor the entity uses in order to improve the effective delivery of healthcare. As a result, interoperability improves the delivery of health care by making the right data available at just the right time to the right individuals. Standards have changed to include and classify more parts of medicine (structure); to code them in more detail (purpose); and to change as technology changes (technology). HL7 defines a format for the
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
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