뻐꾸기 둥지

1. 유전적 감수성 관련

1) 표현형 - nodal type 이 아닌 경우 업무관련성을 주장할 수 있을 것임.

Ann Rheum Dis. 2006 Feb 27; [Epub ahead of print]   Related Articles, Links  
Linkage to nodal osteoarthritis: Quantitative and qualitative analyses of data from a whole genome screen identifies trait dependent susceptibility loci.

Greig C, Spreckley K, Aspinwall R, Gillaspy E, Grant M, Ollier W, John S, Doherty M, Wallis GA.

University of Warwick, United Kingdom.

OBJECTIVE: To identify susceptibility loci for nodal osteoarthritis (OA). METHODS: A genome screen at an average marker spacing of 9.29cM was performed on 558 subjects from 202 families of whom 491 had nodal OA. All genotyped individuals were graded for the incidence and severity of distal interphalangeal (DIP) nodes, and radiographs available from 354 individuals were graded for joint space narrowing (JSN) and osteophytes (OST). This phenotypic data was used to create age regressed indices for DIP nodes, JSN and OST. Affected sibling pair (ASP) and quantitative trait analyses were carried out using MERLIN. RESULTS: The data analysis identified suggestive linkage to loci on chromosomes 3 (for JSN and OST), 4 (for JSN), 8 (for DIP), 11 (for radiographic OA) and 16 (for JSN). Both the ASP and quantitative analyses identified the loci on chromosomes 4 and 11. The loci on chromosomes 3 and 16 overlap with those identified previously for large joint OA. Of the loci identified by the quantitative analyses with a LODmax>1.5, two were linked to more than one trait, whereas nine were linked to single traits: one for DIP, six for JSN and two for OST. CONCLUSION: The ASP and quantitative analyses of the nodal OA cohort suggest that multiple susceptibility loci for OA influence the traits which combine to form the OA phenotype and that these loci may not act exclusively on the joints of the hand.

PMID: 16504993 [PubMed - as supplied by publisher]

2) 유전적 감수성에 관한 코호트 연구 - 유전자 검사를 해보자는 건 아니지만......

A genome scan for joint-specific hand osteoarthritis susceptibility: The Framingham Study.

Hunter DJ, Demissie S, Cupples LA, Aliabadi P, Felson DT.

Clinical Epidemiology Research and Training Unit, Boston University School of Medicine, Boston, Massachusetts 02118, USA. djhunter@bu.edu

OBJECTIVE: Studies investigating hand osteoarthritis (OA) as a single entity have not shown strong linkage of the disease with any chromosomal sites. We undertook this study to test our hypothesis that phenotypes of hand OA may show stronger linkage than has been shown for overall hand OA. METHODS: We performed a factor analysis on measures of hand OA to determine patterns of disease. Using the joint regions identified by this analysis, we performed a genome-wide linkage analysis for OA susceptibility loci using 426 original cohort members and 790 offspring cohort members in 267 pedigrees. Radiographic OA features evaluated included the Kellgren/Lawrence score, osteophytes, and joint space narrowing. Prior to linkage analysis, standardized residuals were computed from regression analysis of each phenotype on age. This was performed separately for each sex and cohort. The variance component model (GeneHunter) was then applied to the normalized scores of the residuals of both sexes and cohorts. RESULTS: There was evidence suggestive of linkage (logarithm of odds [LOD] score >1.5) at 16 sites. Four of these sites had LOD scores >3.0. Two of these sites (identified in the full sample) included a linkage region for OA of the distal interphalangeal (DIP) joint on chromosome 7 (155 cM; LOD score 3.06) and a linkage region for OA of the first carpometacarpal (CMC) joint on chromosome 15 (81 cM; LOD score 6.25). The other 2 sites (identified in women) included a linkage region for OA of the DIP joint on chromosome 1 (202 cM; LOD score 3.03) and a linkage region for OA of the first CMC joint on chromosome 20 (4 cM; LOD score 3.74). CONCLUSION: These data suggest that several chromosomes contain hand OA susceptibility genes and that a joint-specific approach may be more rewarding than a global approach to the genetics of hand OA. Further investigation of these regions is warranted using finer maps and other populations.

PMID: 15334462 [PubMed - indexed for MEDLINE]

2. 신체의 다른 부위의 퇴행성 관절염 진행과의 관련성

1) 타 관절의 퇴행성 변화와의 관련성  - 손만 관계가 없었다 하는 군요. 일단 원문을 찾아 읽어보고  다른 자료를 더 찾아보아야 겠죠?

Ann Rheum Dis. 2006 May;65(5):623-8. Epub 2005 Oct 11.     Related Articles, Links

The relation between progressive osteoarthritis of the knee and long term progression of osteoarthritis of the hand, hip, and lumbar spine.

Hassett G, Hart DJ, Doyle DV, March L, Spector TD.

Twin Research and Genetic Epidemiology Unit, St. Thomas' Hospital, London, UK. geraldinehassett@bigpond.com

BACKGROUND: The association between progression of knee osteoarthritis and progression of osteoarthritis at sites distant from the knee is unclear because of a lack of multisite longitudinal progression data. OBJECTIVE: To examine the association between radiological progression of knee osteoarthritis and osteoarthritis of the hands, hips, and lumbar spine in a population based cohort. METHODS: 914 women had knee x rays taken 10 years apart, which were read for the presence of osteophytes and joint space narrowing (JSN). Progression status was available for hand, hip, and lumbar spine x rays over the same 8 to 10 year period. The association between progression of knee osteoarthritis and osteoarthritis at other sites was analysed using odds ratios (OR) and 95% confidence intervals (CI) in logistic regression models. RESULTS: 89 of 133 women had progression of knee osteoarthritis based on osteophytes, and 51 of 148 based on JSN definition. Progression of JSN in the knee was predicted by progression in lumbar spine disc space narrowing (OR = 2.9 (95% CI 1.2 to 7.5)) and hip JSN (OR = 2.0 (1.0 to 4.2)). No consistent effects were seen for hand osteoarthritis. The associations remained after adjustment for age and body mass index. CONCLUSIONS: Progression of knee osteoarthritis is associated with progression of lumbar spine and hip osteoarthritis. This may have implications for trial methodology, the selection of patients for osteoarthritis research, and advice for patients on prognosis of osteoarthritis.

PMID: 16219710 [PubMed - in process]

2) 타 관절의 퇴행성 변화

Arthritis Rheum. 2005 Apr;52(4):1077-80.       Related Articles, Links

Association of the Frizzled-related protein gene with symptomatic osteoarthritis at multiple sites.

Min JL, Meulenbelt I, Riyazi N, Kloppenburg M, Houwing-Duistermaat JJ, Seymour AB, Pols HA, van Duijn CM, Slagboom PE.

Leiden University Medical Center, Section of Molecular Epidemiology, Leiden, The Netherlands.

OBJECTIVE: To confirm the association of 2 variants of the Frizzled-related protein gene (FRZB) with osteoarthritis (OA) of the hip, and to investigate whether these variants also associate with other heritable generalized OA phenotypes. METHODS: An association analysis of 2 variants (R200W and R324G) of FRZB was performed in a random sample of 1,369 subjects (ages 55-70 years) from a population-based cohort (the Rotterdam Study) scored for radiographic characteristics of OA in the hip, hand, spine, and knee and in a patient population of Caucasian probands (ages 40-70 years) and their siblings selected for the presence of primary symptomatic OA at multiple sites. RESULTS: The allele frequency of the 2 variants was not significantly different between subjects with hip radiographic OA (ROA) and controls. The frequency of the G allele of the R324G variant was significantly increased in subjects with generalized ROA from the Rotterdam Study (0.10) and in subjects from the Genetics, osteoARthritis and Progression study (0.11) compared with that in controls from the Rotterdam Study (0.08). Carriers of this G allele had increased susceptibility for generalized ROA (odds ratio [OR] 1.4, 95% confidence interval [95% CI] 0.9-1.9, P = 0.10) or familial symptomatic OA at multiple sites (OR 1.6, 95% CI 1.1-2.3, P = 0.02). CONCLUSION: Our results confirm that the R324G variant of the FRZB gene is involved in OA and indicate a role of this variant in several generalized OA phenotypes. A more extended OA phenotype may indeed be expected from genetic variation in an essential pathway of skeletal development such as Wnt signaling.

PMID: 15818669 [PubMed - indexed for MEDLINE]

3. 필요한 정보

  - 업무내용의 정확한 기술과 인간공학적 평가

  - 동료작업자에 대한 조사

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나는 산재보상을 목적으로 하는 업무관련성의 평가에 대해서 회의적인 생각이 들 때가 많다. 이런 것을 굳이 평가하지 않고도 아픈 사람은 치료받고 요양할 수 있는 사회에서, 업무관련성의 평가는 직업병 예방을 목적으로만 쓰이는 사회에서 살고 싶다. 누군가 헌신하지 않으면 현실화되지 못할 미래......