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Abstract Number: 2277

Familial Aggregation and Heritability of Systemic Lupus Erythematosus in Taiwan: A Nationwide Population Study

Chang-Fu Kuo1, Matthew J. Grainge2, Lai-Chu See3, Kuang-Hui Yu4, Shue-Fen Luo4, Ana M. Valdes5, Hsiao-Chun Chang4, I-Jun Chou6, Weiya Zhang1 and Michael Doherty7, 1Academic Rheumatology, School of Clinical Sciences, University of Nottingham, Nottingham, United Kingdom, 2Division of Epidemiology and Public Health, School of Community Health Sciences, University of Nottingham, Nottingham, United Kingdom, 3Department of Public Health, College of Medicine, Chang Gung University, Taoyuan, Taiwan, 4Division of Rheumatology, Immunology and Allergy, Chang Gung Memorial Hospital, Taoyuan, Taiwan, 5Dept of Twin Research and Genetic Epidemiology, St. Thomas' Hospital, King's College London, London, United Kingdom, 6Department of Pediatrics, Chang Gung Memorial Hospital, Taoyuan, Taiwan, 7Academic Rheumatology, University of Nottingham, Nottingham, United Kingdom

Meeting: 2012 ACR/ARHP Annual Meeting

Keywords: Family studies and systemic lupus erythematosus (SLE)

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Session Information

Title: Systemic Lupus Erythematosus - Human Etiology and Pathogenesis

Session Type: Abstract Submissions (ACR)

Background/Purpose:

The aims of the present study were to estimate relative risk (RR) of systemic lupus erythematosus (SLE) in individuals with affected relatives in comparison with those without family history of the disease. We also estimated the heritability of SLE in the general population in Taiwan.

Methods:

Using data from the National Health Insurance Research Database in Taiwan, we conducted a nationwide cross-sectional study of data collected from 11,449,138 men and 11,800,070 women in 2010. Cases of SLE were defined as those receiving catastrophic illness certificates for SLE. The identification of first-degree relatives of each individual was determined using the NIHRD registry for beneficiaries. This specifies relationships between the insured person who paid the insurance fee and his/her dependents, allowing first-degree relatives (father, mother, son, daughter, brother, sister, twin) to be identified directly. Full siblings were identified as individuals who shared the same parents. Twins were full siblings who shared the same date of birth. The marginal Cox proportional hazard model with an equal follow-up time was used to estimate RR (95% confidence interval [CI]), accounting for shared environment and case clustering within families with robust variance, and adjusting for age and sex. Heritability (h2) was estimated using the multifactorial polygenic model.

Results:

There were 2,029 men (0.02%) and 17,200 women (0.15%) who had SLE in 2010. The prevalence of SLE was higher in individuals with affected first-degree relatives (1.16%) than those without (0.08%). The overall familial RR was 15.68 (95% CI, 13.66–18.00). The RRs (95% CIs) for an individual with an affected twin, sibling, offspring and parent were 30.00 (17.82–50.51), 24.69 (19.13–31.85), 11.26 (9.10–13.93) and 14.24 (12.07–16.80), respectively. The RR (95% CI) increased with the number of affected first-degree relatives, from 15.61 (13.59–17.93) and 36.12 (9.10–143.46) for one and two or more affected relatives. The heritability of SLE was 0.72 (95% CI, 0.66–0.79). 

Conclusion:

This population-based study confirms strong familial aggregation and high heritability of SLE. We provided solid evidence for the significance of genetic factor in SLE susceptibility.


Disclosure:

C. F. Kuo,
None;

M. J. Grainge,
None;

L. C. See,
None;

K. H. Yu,
None;

S. F. Luo,
None;

A. M. Valdes,
None;

H. C. Chang,
None;

I. J. Chou,
None;

W. Zhang,
None;

M. Doherty,
None.

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