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BMJ. 1996 April 13; 312(7036): 940–943.
PMCID: PMC2350783

Genetic influences on osteoarthritis in women: a twin study.


OBJECTIVES--To assess the relative contribution of genetic and environmental factors to common forms of osteoarthritis of the hands and knees. DESIGN--Classic twin study with unselected twins who were screened radiologically for osteoarthritis. SUBJECTS--130 identical and 120 non-identical female twins aged 48-70 recruited from a London based twin register and through a national media campaign. MAIN OUTCOME MEASURES--Similarity in identical compared with non-identical twin pairs for radiographic changes at the interphalangeal and first carpometacarpal joints of the hands and the tibiofemoral joint and patellofemoral joint of the knee expressed as intraclass correlations. RESULTS--The intraclass correlations of radiographic osteophytes and narrowing at most sites and the presence of Heberden's nodes and knee pain were higher in the identical pairs. The intraclass correlation of the total radiographic osteoarthritis score in identical pairs (rMZ) was 0.64 (SE 0.05) compared with 0.38 (0.08) in non-identical pairs. The proportion of genetic variance of total osteoarthritis score (osteophytes and narrowing) with modelling techniques was estimated at 0.54 (95% confidence interval 0.43 to 0.65) and ranged from 0.39 to 0.65 for different sites and features (p < 0.001) after adjustment for age and weight. CONCLUSIONS--These results demonstrate for the first time a clear genetic effect for radiographic osteoarthritis of the hand and knee in women, with a genetic influence ranging from 39-65%, independent of known environmental or demographic confounders. The results of this study should lead to further work on isolating the gene or genes involved in the pathogenesis of the common disabling disease.

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  • Editor Journal summary. Ann Rheum Dis. 1992 Jan;51(1):1–3. [PMC free article]
  • Felson DT, Anderson JJ, Naimark A, Walker AM, Meenan RF. Obesity and knee osteoarthritis. The Framingham Study. Ann Intern Med. 1988 Jul 1;109(1):18–24. [PubMed]
  • Anderson JJ, Felson DT. Factors associated with osteoarthritis of the knee in the first national Health and Nutrition Examination Survey (HANES I). Evidence for an association with overweight, race, and physical demands of work. Am J Epidemiol. 1988 Jul;128(1):179–189. [PubMed]
  • Hart DJ, Spector TD. The relationship of obesity, fat distribution and osteoarthritis in women in the general population: the Chingford Study. J Rheumatol. 1993 Feb;20(2):331–335. [PubMed]
  • KELLGREN JH, LAWRENCE JS. Osteo-arthrosis and disk degeneration in an urban population. Ann Rheum Dis. 1958 Dec;17(4):388–397. [PMC free article] [PubMed]
  • Felson DT, Naimark A, Anderson J, Kazis L, Castelli W, Meenan RF. The prevalence of knee osteoarthritis in the elderly. The Framingham Osteoarthritis Study. Arthritis Rheum. 1987 Aug;30(8):914–918. [PubMed]
  • Cooper C, McAlindon T, Snow S, Vines K, Young P, Kirwan J, Dieppe P. Mechanical and constitutional risk factors for symptomatic knee osteoarthritis: differences between medial tibiofemoral and patellofemoral disease. J Rheumatol. 1994 Feb;21(2):307–313. [PubMed]
  • Palotie A, Väisänen P, Ott J, Ryhänen L, Elima K, Vikkula M, Cheah K, Vuorio E, Peltonen L. Predisposition to familial osteoarthrosis linked to type II collagen gene. Lancet. 1989 Apr 29;1(8644):924–927. [PubMed]
  • Knowlton RG, Katzenstein PL, Moskowitz RW, Weaver EJ, Malemud CJ, Pathria MN, Jimenez SA, Prockop DJ. Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia. N Engl J Med. 1990 Feb 22;322(8):526–530. [PubMed]
  • Ala-Kokko L, Baldwin CT, Moskowitz RW, Prockop DJ. Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia. Proc Natl Acad Sci U S A. 1990 Sep;87(17):6565–6568. [PubMed]
  • Pun YL, Moskowitz RW, Lie S, Sundstrom WR, Block SR, McEwen C, Williams HJ, Bleasel JF, Holderbaum D, Haqqi TM. Clinical correlations of osteoarthritis associated with a single-base mutation (arginine519 to cysteine) in type II procollagen gene. A newly defined pathogenesis. Arthritis Rheum. 1994 Feb;37(2):264–269. [PubMed]
  • Martin NG, Martin PG. The inheritance of scholastric abilities in a sample of twins. I. Ascertainments of the sample and diagnosis of zygosity. Ann Hum Genet. 1975 Oct;39(2):213–218. [PubMed]
  • Hart DJ, Spector TD. Cigarette smoking and risk of osteoarthritis in women in the general population: the Chingford study. Ann Rheum Dis. 1993 Feb;52(2):93–96. [PMC free article] [PubMed]
  • Hart DJ, Spector TD, Brown P, Wilson P, Doyle DV, Silman AJ. Clinical signs of early osteoarthritis: reproducibility and relation to x ray changes in 541 women in the general population. Ann Rheum Dis. 1991 Jul;50(7):467–470. [PMC free article] [PubMed]
  • Donner A, Klar N, Eliasziw M. Statistical methodology for estimating twin similarity with respect to a dichotomous trait. Genet Epidemiol. 1995;12(3):267–277. [PubMed]
  • Williams CJ, Christian JC, Norton JA., Jr TWINAN90: a FORTRAN program for conducting ANOVA-based and likelihood-based analyses of twin data. Comput Methods Programs Biomed. 1992 Jul;38(2-3):167–176. [PubMed]
  • Spector TD, Cooper C. Radiographic assessment of osteoarthritis in population studies: whither Kellgren and Lawrence? Osteoarthritis Cartilage. 1993 Oct;1(4):203–206. [PubMed]
  • McAlindon TE, Snow S, Cooper C, Dieppe PA. Radiographic patterns of osteoarthritis of the knee joint in the community: the importance of the patellofemoral joint. Ann Rheum Dis. 1992 Jul;51(7):844–849. [PMC free article] [PubMed]
  • Hochberg MC, Lawrence RC, Everett DF, Cornoni-Huntley J. Epidemiologic associations of pain in osteoarthritis of the knee: data from the National Health and Nutrition Examination Survey and the National Health and Nutrition Examination-I Epidemiologic Follow-up Survey. Semin Arthritis Rheum. 1989 May;18(4 Suppl 2):4–9. [PubMed]
  • Davis MA, Ettinger WH, Neuhaus JM, Mallon KP. Knee osteoarthritis and physical functioning: evidence from the NHANES I Epidemiologic Followup Study. J Rheumatol. 1991 Apr;18(4):591–598. [PubMed]
  • Hart D, Spector T, Egger P, Coggon D, Cooper C. Defining osteoarthritis of the hand for epidemiological studies: the Chingford Study. Ann Rheum Dis. 1994 Apr;53(4):220–223. [PMC free article] [PubMed]
  • Spector TD, Hart DJ, Byrne J, Harris PA, Dacre JE, Doyle DV. Definition of osteoarthritis of the knee for epidemiological studies. Ann Rheum Dis. 1993 Nov;52(11):790–794. [PMC free article] [PubMed]
  • Silman AJ, MacGregor AJ, Thomson W, Holligan S, Carthy D, Farhan A, Ollier WE. Twin concordance rates for rheumatoid arthritis: results from a nationwide study. Br J Rheumatol. 1993 Oct;32(10):903–907. [PubMed]
  • Heller RF, O'Connell DL, Roberts DC, Allen JR, Knapp JC, Steele PL, Silove D. Lifestyle factors in monozygotic and dizygotic twins. Genet Epidemiol. 1988;5(5):311–321. [PubMed]
  • Phillips DI. Twin studies in medical research: can they tell us whether diseases are genetically determined? Lancet. 1993 Apr 17;341(8851):1008–1009. [PubMed]

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