The genetic contribution to hand osteoarthritis. Magnusson, K., Turkiewicz, A., Haugen, I. K., & Englund, M. Osteoarthritis and Cartilage, 30(10):1385–1389, October, 2022.
doi  abstract   bibtex   
OBJECTIVE: To estimate the genetic contribution to doctor-diagnosed hand osteoarthritis (OA). METHODS: Using data from the Swedish Twin Registry and National Patient Register, we conducted a 20-year population-based longitudinal cohort study including 59,970 twins aged 35 years or older. We studied inpatient and outpatient doctor-diagnosed hand OA using ICD-10 codes from 1997 until 2016, including both the distal/proximal interphalangeal (DIP/PIP) joints and/or the first carpometacarpal (CMC-1) joints. We calculated intra-pair correlation, estimated the heritability (i.e., the percentage variation in hand OA that can be explained by genetic factors) as well as a genetic risk. RESULTS: Among 59,970 included persons, 936 had a hand OA diagnosis registered during the study period. The heritabilities of hand OA (any joint), CMC-1 OA and DIP/PIP OA were ∼87%, 86% and 48%, respectively, yet the two latter should be interpreted with care due to low numbers. Hand OA in any joint in both twins in a pair occurred more frequently in identical twins (54/554 = 9.7%, intra-pair correlation = 0.54, 95% CI = 0.44-0.63) than in fraternal twins (18/1,246 = 1.4%, intra-pair correlation = 0.10, 95% CI = -0.01-0.22). Identical twins who were diagnosed with hand OA in any joint had a far higher risk than fraternal twins with hand OA to also have their co-twin diagnosed with hand OA in any joint (Hazard Ratio = 6.98, 95% CI = 3.08-15.45). CONCLUSION: The genetic contribution to hand OA is high and likely varying between 48% and 87%. Potential differential heritability by hand OA phenotypes should be further explored.
@article{magnusson_genetic_2022,
	title = {The genetic contribution to hand osteoarthritis},
	volume = {30},
	issn = {1522-9653},
	doi = {10.1016/j.joca.2022.06.011},
	abstract = {OBJECTIVE: To estimate the genetic contribution to doctor-diagnosed hand osteoarthritis (OA).
METHODS: Using data from the Swedish Twin Registry and National Patient Register, we conducted a 20-year population-based longitudinal cohort study including 59,970 twins aged 35 years or older. We studied inpatient and outpatient doctor-diagnosed hand OA using ICD-10 codes from 1997 until 2016, including both the distal/proximal interphalangeal (DIP/PIP) joints and/or the first carpometacarpal (CMC-1) joints. We calculated intra-pair correlation, estimated the heritability (i.e., the percentage variation in hand OA that can be explained by genetic factors) as well as a genetic risk.
RESULTS: Among 59,970 included persons, 936 had a hand OA diagnosis registered during the study period. The heritabilities of hand OA (any joint), CMC-1 OA and DIP/PIP OA were ∼87\%, 86\% and 48\%, respectively, yet the two latter should be interpreted with care due to low numbers. Hand OA in any joint in both twins in a pair occurred more frequently in identical twins (54/554 = 9.7\%, intra-pair correlation = 0.54, 95\% CI = 0.44-0.63) than in fraternal twins (18/1,246 = 1.4\%, intra-pair correlation = 0.10, 95\% CI = -0.01-0.22). Identical twins who were diagnosed with hand OA in any joint had a far higher risk than fraternal twins with hand OA to also have their co-twin diagnosed with hand OA in any joint (Hazard Ratio = 6.98, 95\% CI = 3.08-15.45).
CONCLUSION: The genetic contribution to hand OA is high and likely varying between 48\% and 87\%. Potential differential heritability by hand OA phenotypes should be further explored.},
	language = {eng},
	number = {10},
	journal = {Osteoarthritis and Cartilage},
	author = {Magnusson, K. and Turkiewicz, A. and Haugen, I. K. and Englund, M.},
	month = oct,
	year = {2022},
	pmid = {35843480},
	keywords = {Carpometacarpal Joints, Epidemiology, Genetics, Hand, Hand OA, Humans, Longitudinal Studies, Osteoarthritis, Twins, Dizygotic, Twins, Monozygotic},
	pages = {1385--1389},
}

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