Joint-specific twin and familial aggregation of recalled physician diagnosed osteoarthritis

Twin Research ◽  
1999 ◽  
Vol 2 (3) ◽  
pp. 196-202 ◽  
Author(s):  
Urho M Kujala ◽  
Jenni Leppävuori ◽  
Jaakko Kaprio ◽  
Jaakko Kinnunen ◽  
Leena Peltonen ◽  
...  
Keyword(s):  
Environmental Effects ◽  
Twin Pair ◽  
Familial Aggregation ◽  
Knee Joints ◽  
Questionnaire Study ◽  
Gene Effects ◽  
Specific Data ◽  
Knee Oa ◽  
History Of ◽  
Additive Gene

AbstractIn our three-stage questionnaire study we investigated patterns of twin and familial aggregation of osteoarthritis (OA) for commonly affected joints. The baseline questionnaire study of the Finnish Twin Cohort was performed in 1975. In 1990, 4095 twin pairs of the same gender born 1930–1957 responded to a questionnaire and reported whether they had OA diagnosed by a physician. In 1996 both twins of 266 pairs of which at least one had reported OA in 1990 responded to a detailed questionnaire on joint-specific OA, including family history of OA. In male pairs shared (non-genetic) familial effects accounted for 37% of the total variance in liability to OA and unshared environmental effects for 63%. In female pairs additive gene effects explained 44% of the variance in liability to OA, and unshared environmental effects for 36%. Familial aggregation of finger and knee OA was clearly higher than that of hip OA. Twin-pair discordance for OA was, to some extent, associated with body-mass index, occupational loading and trauma. Our results indicate that genetic effects may be modulated by sex or by environmental factors distributed differently between men and women. Based on our joint-specific data finger and knee joints are the most optimal targets for studies of genetic factors predisposing to the development of OA.

scholarly journals Synovial Fluid Fatty Acid Profiles Differ between Osteoarthritis and Healthy Patients

Cartilage ◽  
2018 ◽  
Vol 11 (4) ◽  
pp. 473-478 ◽  
Author(s):  
Arne Van de Vyver ◽  
Stefan Clockaerts ◽  
Chris H. A. van de Lest ◽  
Wu Wei ◽  
Jan Verhaar ◽  
...  
Keyword(s):  
Synovial Fluid ◽  
Joint Disease ◽  
Knee Joints ◽  
Nervonic Acid ◽  
Omega 3 ◽  
Knee Oa ◽  
Omega 6 ◽  
History Of ◽  
End Stage ◽  
And Control

Objective Free fatty acids (FAs) may influence cartilage metabolism and osteoarthritis (OA) disease progression. It is not clearly studied which FAs are present in the synovial fluid of knee joints and whether there are differences in FA content between nonsymptomatic and OA knee joints. The aim of this study was to investigate the presence of different types of FAs in synovial fluid of both OA- and nonsymptomatic control joints, and to analyze differences between both groups. Design A total of 23 synovial fluid samples were collected from patients with end-stage knee OA undergoing total knee replacement, with approval of the medical ethical committee. As controls, 6 synovial fluid samples were obtained from postmortem donors without any history of joint disease or arthritis. Measurement of free FA concentration was done by mass spectrometry for saturated FAs (SFA), monounsaturated FAs (MUFA), and omega-3 and omega-6 polyunsaturated FAs (n-3 PUFAs and n-6 PUFAs). Results Our measurements demonstrated the presence of SFAs, MUFAs, n-3 and n-6 PUFAs in synovial fluid of both nonsymptomatic and OA knee joints. The n-6/n-3 ratio was significantly lower in the OA group ( P = 0.0005). Arachidonic acid (n-6 PUFA) concentrations were also lower in OA synovial fluid ( P = 0.01), while tetracosadienoic acid ( P = 0.0001) and nervonic acid ( P = 0.001) (MUFAs) were higher in synovial fluid of patients with knee OA. Conclusion Synovial fluid contains a broad spectrum of free FAs. The FAs profile differs between OA and control subjects, including a tendency for less n-6 FAs in OA joints.

Familial influence on tibiofemoral alignment

2009 ◽  
Vol 69 (3) ◽  
pp. 542-545 ◽  
Author(s):  
Abdurrahman Tufan ◽  
Ingrid Meulenbelt ◽  
Jessica Bijsterbosch ◽  
Herman M Kroon ◽  
Sita M A Bierma-Zeinstra ◽  
...  
Keyword(s):  
Familial Aggregation ◽  
Joint Involvement ◽  
Sibling Pairs ◽  
Tibiofemoral Angle ◽  
Knee Oa ◽  
History Of ◽  
Tibiofemoral Alignment ◽  
The Mean ◽  
Heritability Estimates ◽  
The Right

BackgroundTibiofemoral alignment has a role in knee osteoarthritis (OA), but which factors contribute to alignment is unknown.ObjectiveTo investigate familial aggregation of tibiofemoral alignment in participants of the GARP (Genetics ARthrosis and Progression) study.MethodsThe tibiofemoral anatomical angle on semiflexed knee radiographs was measured in sibling pairs (mean age 60 years, 81% women) with primary OA with multiple joint involvement. Radiographic OA was assessed according to the Kellgren–Lawrence (KL) method. Heritability estimates of the tibiofemoral angle were calculated by comparing twice the between-sibling variance with the total variance; adjustments were made for age, gender, body mass index, history of meniscectomy, lower limb fracture and in analyses including all knees, for KL score.Results360 subjects representing 180 families were studied. The mean (SD) tibiofemoral angle of right and left knees in the probands was 182.7 (2.9)° and 182.8 (2.6)°, respectively; similar angles were measured in the siblings. Radiographic knee OA (KL score ≥2) was present in 27% of the knees. Stratified analyses in sib pairs with non-osteoarthritic right or left knees showed adjusted heritability estimates of the tibiofemoral angle of the right and left knees of 0.42 (95% CI 0.02 to 0.82) and 0.56 (95% CI 0.19 to 0.93). In addition, adjusted heritability estimates of the tibiofemoral angle in all right and left knees were calculated, being 0.48 (95% CI 0.18 to 0.78) and 0.50 (95% CI 0.21 to 0.79), respectively.ConclusionThe alignment of the tibiofemoral joint is influenced by familial factors, implying that tibiofemoral malalignment may add to the genetic predisposition for knee OA development. These results need to be confirmed in other study populations.

scholarly journals Assessment of clinical significance of ultrasonographic detection ofhyperechogenic deposits in hyaline cartilage in patients with knee osteoarthritis

2019 ◽  
Vol 57 (1) ◽  
pp. 33-37
Author(s):  
A. V. Petrov ◽  
N. V. Matveeva ◽  
A. A. Petrov
Keyword(s):  
Structural Changes ◽  
Hyaline Cartilage ◽  
Clinical Manifestations ◽  
Joint Space ◽  
Calcium Pyrophosphate ◽  
Knee Joints ◽  
X Ray ◽  
Knee Oa ◽  
Reactive Protein ◽  
History Of

The aimof the study was to assess the relationship between the detection of hyperechogenic deposits (HD) in the hyaline cartilage of the knee joints (KJ) at ultrasonography in patients with osteoarthritis (OA), clinical manifestations and structural changes according to KJ ultrasonography and radiography.Material and methods.A prospective analysis of clinical, radiological and ultrasonographic data of 114 patients with knee OA was conducted. The patients were divided into two groups: 32 patients with HD detected in at least one of the KJ, and 82 patients without HD; 32 patients of the 1st group and 34 patients of the 2nd group were observed for 2 years. A comparative assessment of initial clinical manifestations (WOMAC index), x-ray data and ultrasonographic parameters of the subchondral bone, hyaline cartilage and the degree of synovial inflammation in the groups of patients at the beginning of the study and after 2 years was carried out. The exclusion criteria were other joint diseases; paroxysmal course of the inflammatory process in KJ; trauma and history of operations on KJ; ESR >20 mm/h, uric acid level >360 μmol/l and C-reactive protein >5 mg/l.Results and discussion.HD in hyaline cartilage was found in 28.1% of patients with knee OA. After 2 years HD remained in all patients having them at inclusion, and in 5.6% of the patients they were found for the first time. In 13 patients with HD in hyaline cartilage, synovial fluid was studied and in all cases calcium pyrophosphate crystals were identified by phase-contrast microscopy. The presence of HD in the hyaline cartilage of patients with knee OA was accompanied by more pronounced ultrasonographic signs of synovitis and was associated with a higher rate of osteophytes growth in the absence of the changes of the hyaline cartilage thickness according to the ultrasonography and the width of the joint space according to x-ray.Conclusion.The presence of HD in the hyaline cartilage of patients with knee OA according to ultrasound examination may be associated with the deposition of calcium pyrophosphate crystals and is associated with persistent synovitis and accelerated growth of osteophytes.

scholarly journals Phospholipase A2 inhibitor–loaded micellar nanoparticles attenuate inflammation and mitigate osteoarthritis progression

2021 ◽  
Vol 7 (15) ◽  
pp. eabe6374
Author(s):  
Yulong Wei ◽  
Lesan Yan ◽  
Lijun Luo ◽  
Tao Gui ◽  
Biang Jang ◽  
...  
Keyword(s):  
Clinical Success ◽  
Joint Space ◽  
Therapeutic Agents ◽  
Knee Joints ◽  
Phospholipid Membrane ◽  
Drug Discovery And Development ◽  
Knee Oa ◽  
Clinical Challenge ◽  
Osteoarthritis Progression ◽  
Human And Mouse

Treating osteoarthritis (OA) remains a major clinical challenge. Despite recent advances in drug discovery and development, no disease-modifying drug for knee OA has emerged with any notable clinical success, in part, due to the lack of valid and responsive therapeutic targets and poor drug delivery within knee joints. In this work, we show that the amount of secretory phospholipase A2 (sPLA2) enzyme increases in the articular cartilage in human and mouse OA cartilage tissues. We hypothesize that the inhibition of sPLA2 activity may be an effective treatment strategy for OA. To develop an sPLA2-responsive and nanoparticle (NP)–based interventional platform for OA management, we incorporated an sPLA2 inhibitor (sPLA2i) into the phospholipid membrane of micelles. The engineered sPLA2i-loaded micellar NPs (sPLA2i-NPs) were able to penetrate deep into the cartilage matrix, prolong retention in the joint space, and mitigate OA progression. These findings suggest that sPLA2i-NPs can be promising therapeutic agents for OA treatment.

Evaluation of electroacupuncture for symptom modification in a rodent model of spontaneous osteoarthritis

2021 ◽  
pp. 096452842110207
Author(s):  
Alexa P Spittler ◽  
Maryam F Afzali ◽  
Richard B Martinez ◽  
Lauren A Culver ◽  
Sarah E Leavell ◽  
...  
Keyword(s):  
Rodent Model ◽  
Knee Joints ◽  
Control Group ◽  
Disease Modification ◽  
Inflammatory Biomarker ◽  
Knee Oa ◽  
Significant Difference ◽  
Gene Transcripts ◽  
Restricted Mobility ◽  
Movement Parameters

Objective: Faced with the frustration of chronic discomfort and restricted mobility due to osteoarthritis (OA), many individuals have turned to acupuncture for relief. However, the efficacy of acupuncture for OA is uncertain, as much of the evidence is inconclusive. The purpose of this study was to evaluate electroacupuncture (EA) in a rodent model of OA such that conclusions regarding its effectiveness for symptom or disease modification could be drawn. Methods: Ten 12-month-old male Hartley guinea pigs—which characteristically have moderate to advanced OA at this age—were randomly assigned to receive EA for knee OA (n = 5) or anesthesia only (control group, n = 5). Treatments were performed three times weekly for 3 weeks, followed by euthanasia 2 weeks later. Gait analysis and enclosure monitoring were performed weekly to evaluate changes in movement. Serum was collected for inflammatory biomarker testing. Knee joints were collected for histology and gene expression. Results: Animals receiving EA had significantly greater changes in movement parameters compared to those receiving anesthesia only. There was a tendency toward decreased serum protein concentrations of complement component 3 (C3) in the EA group compared to the control group. Structural and antioxidant gene transcripts in articular cartilage were increased by EA. There was no significant difference in total joint histology scores between groups. Conclusion: This study provides evidence that EA has a positive effect on symptom, but not disease, modification in a rodent model of OA. Further investigations into mechanistic pathways that may explain the efficacy of EA in this animal model are needed.

scholarly journals Familial Aggregation of Psoriasis and Co-Aggregation of Autoimmune Diseases in Affected Families

2019 ◽  
Vol 8 (1) ◽  
pp. 115 ◽  
Author(s):  
Yu-Huei Huang ◽  
Chang-Fu Kuo ◽  
Lu-Hsiang Huang ◽  
Mei-Yun Hsieh
Keyword(s):  
Autoimmune Diseases ◽  
Genetic Factors ◽  
Familial Aggregation ◽  
Population Based ◽  
Study Cohort ◽  
Genetic Contribution ◽  
Degree Relative ◽  
Nationwide Study ◽  
Relative Risks ◽  
History Of

Psoriasis is considered to result from the interaction of genetic factors and environmental exposure. The evidence for familial aggregation in psoriasis has been reported but population-based studies related to the magnitude of genetic contribution to psoriasis are rare. This study aimed to evaluate the relative risks of psoriasis in individuals with affected relatives and to calculate the proportion of genetic, shared, and non-shared environmental factors contributing to psoriasis. The study cohort included 69,828 patients diagnosed with psoriasis enrolled in National health Insurance in 2010. The adjusted relative risks (RR) for individuals with an affected first-degree relative and affected second-degree relative were 5.50 (95% CI (Confidence Interval), 5.19–5.82) and 2.54 (95% CI, 2.08–3.12) respectively. For those who have affected first-degree relatives, their RR was 1.45 (95% CI, 1.17–1.79) for Sjogren’s syndrome and 1.94 (95% CI, 1.15–3.27) for systemic sclerosis. This nationwide study ascertains that family history of psoriasis is a risk factor for psoriasis. Individuals with relatives affected by psoriasis have higher risks of developing some autoimmune diseases.

Estimating the heritability of butterfat production

1961 ◽  
Vol 57 (3) ◽  
pp. 289-294 ◽  
Author(s):  
S. R. Searle
Keyword(s):  
Genetic Variation ◽  
New Zealand ◽  
Dairy Cows ◽  
Total Variance ◽  
Additive Effects ◽  
Narrow Sense ◽  
Sampling Errors ◽  
Gene Effects ◽  
Additive Gene Effects ◽  
Additive Gene

Part of the variation among butterfat yields in dairy cows arises from genetic differences among the animals. The proportion which this bears to the total variance is known as heritability. In the ‘narrow’ sense it is defined (Lush, 1940), as the proportion of the total variance that is due to additive gene effects; the ‘broad’ sense definition includes genetic variation arising from non-additive gene effects as well as that due to additive effects. Since related animals have a proportion of their genes in common the covariance among their production records can be used for estimating genetic variation and hence heritability. This paper discusses three groups of related animals most frequently used for this purpose, twins, daughter-dam pairs and paternal half-sibs, and presents the results of analysing production records of artificially bred heifers in New Zealand, including evidence of the magnitude of the sampling errors of the heritability estimates.

scholarly journals Identification of Heterotic Pairs by Full-Sib Reciprocal Recurrent Selection in Maize Synthetic Populations on Turda CompositeA(B)(2) x Turda CompositeB(A)(2)

2013 ◽  
Vol 70 (1) ◽  
pp. 208-213
Author(s):  
Andreea Daniela ONA ◽  
Ioan HAȘ ◽  
Ivan ILARIE ◽  
Voichița HAȘ ◽  
Nicolae TRITEAN ◽  
...  
Keyword(s):  
Recurrent Selection ◽  
Inbred Lines ◽  
Heterotic Group ◽  
Yield Potential ◽  
Reciprocal Recurrent Selection ◽  
Maize Breeding ◽  
Gene Effects ◽  
Synthetic Populations ◽  
Additive Gene ◽  
Selection Test

In the last 40 years, pre-breeding works induced, in more and more centers of maize breeding, full-sib reciprocal recurrent selection programmes to identify some heterotic pairs which can be sources for obtaining performance inbred lines. The aim is to identify the heterotic pairs with the best results according to the yield potential of maize, the breaking and falling resistance, and the grains moisture at the harvesting time. The creation programme of A and B composite population started at ARDS Turda in 1985. Inside of A composite came the next inbred lines: B73, A632, M117, TC209, T291, being from the B SSS heterotic group, and inside of B composite came the inbred lines Mo17, C103, TC 208, T248, W633, appreciated by us or being related to Lancaster Sure Crop heterotic group. The experimentation was done in two orientation comparative cultures, each one with 49 variants, in 4 repetitions; the comparative culture was a balanced quadratic grid of 7x7 type. From each culture were chosen the first six variants, which were evaluated according to the next characters: production potential, breaking and falling resistance, grains moisture at harvest. The presented results are a part from the second cycle of full-sib reciprocal recurrent selection. Test crosses and self-pollinations were made on plants from the two composites which had two cobs; on the first cob from A Composite realised the cross with the corresponding plant from the B Composite, and from the plant panicle of the B Composite was collected pollen to pollinate the chosen plant from the A Composite. At the both plants from the crossing, the second cob was self-pollinated and kept in reserve until 2010, when the test crosses was experimented and were selected the pairs with the best results according to the above characters. Using the full-sib reciprocal recurrent selection, we can successfully harnessing, simultaneously, the additive and non-additive gene effects.

scholarly journals Diallel Analysis for Area, Chlorophyll and Temperature of Flag Leaf in Bread Wheat under Well Watered and Drought Stress Conditions

2021 ◽  
Vol 13 (10) ◽  
pp. 45
Author(s):  
Naheif E. Mohamed ◽  
Ismail M. Bedawy ◽  
Yasser A. M. Hefny
Keyword(s):  
Drought Stress ◽  
Bread Wheat ◽  
Flag Leaf ◽  
Block Design ◽  
Diallel Analysis ◽  
Stress Conditions ◽  
F1 Hybrids ◽  
Gene Effects ◽  
Genetic Components ◽  
Additive Gene

To study genetic analysis of some physiological traits of drought stress in wheat using diallel techniques, an experiment was performed on ten bread wheat genotypes as parents and their 45 F1 hybrids in a randomized complete block design with three replicates under well-watered and drought stress conditions at the Research Farm of Faculty of Agriculture, Sohag University, Egypt during season of 2018/19. The results showed significant differences between the genotypes (G), Parents (P), F1 crosses, P vs. F1, GCA and SCA under well-watered and drought stress in the flag leaf area (FLA), flag leaf chlorophyll content (FLCC) and flag leaf temperature (FLT), except FLCC for F1 crosses exhibited insignificant differences. The significant differences were found in the interaction of SCA × Env., in all studied traits and GCA × Env., for FLT., indicating the involvement of both additive and dominance gene action in their inheritance. The most desirable heterotic effects were considered as the largest positive heterosis estimates for FLA and FLCC, and the lowest negative for FLT. The parent numbers P9, P8 and P3 were the best general combiner for FLA under normal irrigation and drought stress. While the parents P2, P7 and P9 were the best general combiner for FLCC, under normal irrigation and (P1, P2 and P3) under drought stress. Therefor the parents P1, P4 and P5 were the best general combiner for FLT under normal irrigation, also the P3, P4 and P5 were the best general combiner for FLT under drought stress conditions. Under normal irrigation and drought stress conditions as well as the combined data, the additive genetic components of variation (VA) in F1 ’s was much greater than dominance component (VD), as expressed by the (VA/VD) ratio which was more than unity for the FLA, and FLT under normal irrigation and their combined. This indicates that the additive gene effects in F1 crosses are more important than dominance and plays the major role in the inheritance of these studied traits.

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