The Effect of Short Tandem Repeat Loci and Low Selenium Levels on Endemic Osteoarthritis in China

Shi, Xiao W.; Xiong Guo; Ren, Feng L.; Jun Li; Wu, Xiao M.
January 2010
Journal of Bone & Joint Surgery, American Volume;Jan2010, Vol. 92-A Issue 1, p72
Academic Journal
Background: The etiology of Kashin-Beck disease, an endemic osteochondropathy, is unknown. Environmental factors, including selenium deficiency, have been proposed as potential risk factors, but the onset and frequency of this disease vary among groups with similar environmental exposures. Some cases of osteoarthritis that share similar pathological features with Kashin-Beck disease have been associated with specific chromosomal short tandem repeats. In order to better understand the pathogenesis of Kashin-Beck disease, we examined fifteen short tandem-repeat loci on chromosomes 2 and 11 in patients and control subjects, and assessed the interaction between genetic variants and selenium deficiency. Methods: DNA samples from 129 patients with Kashin-Beck disease (the Kashin-Beck disease group), seventy-two healthy control subjects from areas where Kashin-Beck disease was endemic (control group 1), and forty-eight healthy control subjects from areas where Kashin-Beck disease was not endemic (control group 2) were collected, and fifteen short tandem repeats were genotyped. The allele frequencies of these short tandem-repeat loci were compared among the three groups. Differences in selenium concentrations among patients and controls were also examined, and the interaction between low selenium levels and the susceptibility loci was calculated. Results: The percentages of subjects with short tandem-repeat alleles D25338 (290 bp) and D11S4094 (194 bp) in the Kashin-Beck disease group were significantly lower than those in the two control groups, while percentages of D2S305 (320 bp) and D11S4149 (221 bp) were higher than those in the control groups. The percentage of subjects with D11S4149 (217 bp) in the Kashin-Beck disease group was only significantly lower than that in control group 1. The percentages of subjects with D11S912 (106 bp) in both the Kashin-Beck disease group and control group 1 were significantly lower than those in control group 2. Selenium concentrations in serum from subjects in the Kashin-Beck disease group and control group 1 were similar, but both were lower than that of control group 2. The odds ratios of low selenium in serum were between 1.2 and 1.6 (p > 0.05), and the odds ratios of interactions between low selenium and the susceptibility loci ranged between 0.8 and 1.4 (p > 0.05). Conclusions: Our results suggest that variants of the chromosomal short tandem repeats D1154094, D1154149, D2S338, and D2S305 are associated with Kashin-Beck disease, and that the frequency of D115912 polymorphisms varies in geographic areas with high and low prevalences of Kashin-Beck disease. Our data did not show a significant interaction between low selenium and the susceptibility loci in the occurrence of Kashin-Beck disease. The interaction between genetic variabilities and environmental factors can be complex, but our results suggest that genetic factors may be more important than selenium deficiency in the pathogenesis of Kashin-Beck disease.


Related Articles

  • Prediction of susceptibility to major depression by a model of interactions of multiple functional genetic variants and environmental factors. Wong, M-L; Dong, C; Andreev, V; Arcos-Burgos, M; Licinio, J // Molecular Psychiatry;Jun2012, Vol. 17 Issue 6, p624 

    Major depressive disorder (MDD) is the most common psychiatric disorder and the second overall cause of disability. Even though a significant amount of the variance in the MDD phenotype is explained by inheritance, specific genetic variants conferring susceptibility to MDD explain only a minimal...

  • Evolving hard problems: Generating human genetics datasets with a complex etiology.  // BioData Mining;2011, Vol. 4 Issue 1, p21 

    The article focuses on a study, conducted by Casey S. Greene and colleagues, on generating genetics datasets with complex etiology. It states that the major goal in human genetics is to link the state of single-nucleotide polymorphisms (SNPs), which is a single point in a DNA sequence that...

  • Polymorphism in the KCNA3 gene is associated with susceptibility to autoimmune pancreatitis in the Japanese population. Ota, Masao; Ito, Tetsuya; Umemura, Takeji; Katsuyama, Yoshihiko; Yoshizawa, Kaname; Hamano, Hideaki; Kawa, Shigeyuki // Disease Markers;2011, Vol. 31 Issue 4, p223 

    Autoimmune pancreatitis (AIP), characterized by irregular narrowing of the main pancreatic duct, swelling of the pancreas, and histological evidence of lymphoplasmacytic inflammation by high serum immunoglobulin G4, is distinct from ordinary pancreatitis. However, genetic factors involved in the...

  • IL-8 rs4073 T>A POLYMORPHISM IS NOT CORRELATED WITH COLORECTAL CANCER. Dumitrescu, T.; Nicoli, Raluca; Sosoi Serban, Simona; Moraru, E.; Cimpoeru, Alina; Ivanov, P.; Bălăcescu, Alexandra; Gherghina, F.; Voinescu, Doina; Cruce, M. // Annals of the Romanian Society for Cell Biology;2012, Vol. 17 Issue 2, p197 

    The aim of this study was to investigate the association between IL-8 rs4073 -251 polymorphism located in the promoter region and colorectal (CRC) risk in a Romanian population. We included in our research 108 patients diagnosed with sporadic CRC and 150 controls. The DNA samples were analyzed...

  • Receptor for Advanced Gylcation End Products Polymorphisms in Multiple Sclerosis Patients Living in Nile Delta, Egypt. El Menshawi, Ebrahim E.; Arafat, Manal S.; Tawhid, Ziyad E.; Metwally, Shereen S. // Egyptian Journal of Neurology, Psychiatry & Neurosurgery;Oct2014, Vol. 51 Issue 4, p433 

    Background: The etiology of multiple sclerosis (MS) remains elusive with genetic susceptibility. Receptor for advanced glycation end products (RAGE) upregulation is associated with diverse diseases with inflammatory and degenerative pathophysiology. Objective: This work studies the three common...

  • An Epidemiologic Perspective of Saliva Flow Rates as Indicators of Susceptibility to Oral Disease. Billings, Ronald J. // Critical Reviews in Oral Biology & Medicine;1993, Vol. 4 Issue 3, p351 

    Catastrophic hyposalivation significantly increases susceptibility to dental caries in dentate individuals and may cause the expression or exacerbation of other oral diseases/disorders as well. The effect of subcatastrophic hyposalivation on susceptibility to caries or other diseases/disorders...

  • Gender specificity of a genetic variant of angiotensin-converting enzyme and risk of coronary artery disease. Firouzabadi, Negar; Tajik, Nader; Bahramali, Ehsan; Bakhshandeh, Hooman; Maadani, Mohsen; Shafiei, Massoumeh // Molecular Biology Reports;Aug2013, Vol. 40 Issue 8, p4959 

    Etiological factors for coronary artery disease (CAD) involve a wide range of gene and environmental interactions. One of the systems being implicated in the pathophysiology of CAD is the renin-angiotensin system (RAS). However, the genetic polymorphisms of this system have not been widely...

  • Metachronous carcinomas of the large and small bowel. Wells, A. D. // Journal of the Royal Society of Medicine;Apr1980, Vol. 73 Issue 4, p299 

    The article focuses on the cause of metachronous carcinomas. It states that patients who have undergone successful removal of a carcinoma of the large bowel will have 3.5% risk of acquiring metachronous carcinomas on both large and small bowel. A discussion on how the patient recover from his...

  • Testing for causality and prognosis: etiological and prognostic models. Tripepi, Giovanni; Jager, Kitty J; Dekker, Friedo W; Zoccali, Carmine // Kidney International;Dec2008, Vol. 74 Issue 12, p1512 

    Etiological research aims to investigate the causal relationship between putative risk factors (or determinants) and a given disease or other outcome. In contrast, prognostic research aims to predict the probability of a given clinical outcome and in this perspective the pathophysiology of the...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics