Skip to main content

Advertisement

SpringerLink
Log in

Study of familial aggregation of autoimmune rheumatic diseases in Asian Indian patients with systemic lupus erythematosus

  • Observational Research
  • Published:
Rheumatology International Aims and scope Submit manuscript

Abstract

Systemic lupus erythematosus (SLE) and other autoimmune rheumatic diseases (AIRD) tend to co-aggregate in families, making positive familial history a risk factor. We aimed to estimate familial aggregation of AIRD in SLE patients and to compare between ones having a positive and negative family history of autoimmunity in our cohort. We included families of 157 consecutive SLE patients in a hospital-based, cross-sectional design for a three-generation pedigree study. Clinical and laboratory parameters of these patients were recorded. AIRD was seen in families of 39 SLE patients amounting to a familial prevalence of 24.8% [95% confidence interval (CI) 18.1, 31.6] with a relative risk (λ) of 4.3 for first-degree relatives (FDRs) and 1.1 for second-degree relatives (SDRs). SLE was the commonest AIRD seen in families of 19 patients with a familial prevalence of 12.1% (95% CI 7.0, 17.2) and λ of 78.2 for FDRs and 18.1 for SDRs. AIRD as a whole and SLE alone were seen more commonly with parental consanguinity (p < 0.05). Familial aggregation in SLE patients also showed a relatively higher percentage of affected males and lesser presentation with constitutional features (p < 0.05) than sporadic SLE patients. Rheumatoid arthritis (RA) was the second most common AIRD seen in 16/39 (41%) families with a RR of 3.1 in FDRs of SLE patients. In conclusion, Asian Indian SLE patients seem to have a high familial aggregation of AIRD, which is more pronounced in the background of parental consanguinity. SLE is the commonest AIRD seen amongst FDRs and SDRs of SLE patients, followed by RA, with FDRs being at highest risk.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Deng Y, Tsao BP (2010) Genetic susceptibility to systemic lupus erythematosus in the genomic era. Nat Rev Rheumatol 6:683–692. https://doi.org/10.1038/nrrheum.2010.176

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Vázquez-Del Mercado M, García-Cobian TA, Muñoz Valle JF et al (2007) Genotype Ser413/Ser of PAI-2 polymorphism Ser413/Cys is associated with anti-phospholipid syndrome and systemic lupus erythematosus in a familial case: comparison with healthy controls. Scand J Rheumatol 36:206–210. https://doi.org/10.1080/03009740601089648

    Article  CAS  PubMed  Google Scholar 

  3. Nath SK, Kilpatrick J, Harley JB (2004) Genetics of human systemic lupus erythematosus: the emerging picture. Curr Opin Immunol 16:794–800. https://doi.org/10.1016/j.coi.2004.09.007

    Article  CAS  PubMed  Google Scholar 

  4. Sestak AL, Shaver TS, Moser KL et al (1999) Familial aggregation of lupus and autoimmunity in an unusual multiplex pedigree. J Rheumatol 26:1495–1499

    CAS  PubMed  Google Scholar 

  5. Alarcón-Segovia D, Alarcón-Riquelme ME, Cardiel MH et al (2005) Familial aggregation of systemic lupus erythematosus, rheumatoid arthritis, and other autoimmune diseases in 1,177 lupus patients from the GLADEL cohort. Arthritis Rheum 52:1138–1147. https://doi.org/10.1002/art.20999

    Article  PubMed  Google Scholar 

  6. Cotsapas C, Voight BF, Rossin E et al (2011) Pervasive sharing of genetic effects in autoimmune disease. PLoS Genet 7:e1002254. https://doi.org/10.1371/journal.pgen.1002254

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Block SR, Winfield JB, Lockshin MD et al (1975) Studies of twins with systemic lupus erythematosus. A review of the literature and presentation of 12 additional sets. Am J Med 59:533–552

    Article  CAS  Google Scholar 

  8. Deapen D, Escalante A, Weinrib L et al (1992) A revised estimate of twin concordance in systemic lupus erythematosus. Arthritis Rheum 35:311–318

    Article  CAS  Google Scholar 

  9. Arnett FC, Shulman LE (1976) Studies in familial systemic lupus erythematosus. Medicine (Baltimore) 55:313–322. https://doi.org/10.1097/00005792-197607000-00003

    Article  CAS  Google Scholar 

  10. Tsao BP, Grossman JM, Riemekasten G et al (2002) Familiality and co-occurrence of clinical features of systemic lupus erythematosus. Arthritis Rheum 46:2678–2685. https://doi.org/10.1002/art.10519

    Article  PubMed  Google Scholar 

  11. Lawrence JS, Martins CL, Drake GL (1987) A family survey of lupus erythematosus. 1. Heritability. J Rheumatol 14:913–921

    CAS  PubMed  Google Scholar 

  12. Lo MS (2016) Monogenic lupus. Curr Rheumatol Rep 18:71. https://doi.org/10.1007/s11926-016-0621-9

    Article  CAS  PubMed  Google Scholar 

  13. Lim SS, Drenkard C, McCune WJ et al (2009) Population-based lupus registries: advancing our epidemiologic understanding. Arthritis Rheum 61:1462–1466. https://doi.org/10.1002/art.24835

    Article  PubMed  Google Scholar 

  14. Cooper GS, Bynum MLK, Somers EC (2009) Recent insights in the epidemiology of autoimmune diseases: improved prevalence estimates and understanding of clustering of diseases. J Autoimmun 33:197–207. https://doi.org/10.1016/j.jaut.2009.09.008

    Article  PubMed  PubMed Central  Google Scholar 

  15. Malaviya AN, Singh RR, Singh YN et al (1993) Prevalence of systemic lupus erythematosus in India. Lupus 2:115–118. https://doi.org/10.1177/096120339300200209

    Article  CAS  PubMed  Google Scholar 

  16. Chopra A (2015) Disease burden of rheumatic diseases in India: COPCORD perspective. Indian J Rheumatol 10:70

    Article  Google Scholar 

  17. Ulff-Møller CJ, Simonsen J, Kyvik KO et al (2017) Family history of systemic lupus erythematosus and risk of autoimmune disease: nationwide Cohort Study in Denmark 1977–2013. Rheumatol Oxf Engl 56:957–964. https://doi.org/10.1093/rheumatology/kex005

    Article  Google Scholar 

  18. Kuo C-F, Grainge MJ, Valdes AM et al (2015) Familial aggregation of systemic lupus erythematosus and coaggregation of autoimmune diseases in affected families. JAMA Intern Med 175:1518–1526. https://doi.org/10.1001/jamainternmed.2015.3528

    Article  PubMed  Google Scholar 

  19. Sinicato NA, de Oliveira L, Lapa AT et al (2019) Familial aggregation of childhood and adulthood-onset systemic lupus erythematosus. Arthritis Care Res. https://doi.org/10.1002/acr.23931

    Article  Google Scholar 

  20. Petri M, Orbai A-M, Alarcón GS et al (2012) Derivation and validation of the Systemic Lupus International Collaborating Clinics classification criteria for systemic lupus erythematosus. Arthritis Rheum 64:2677–2686. https://doi.org/10.1002/art.34473

    Article  PubMed  PubMed Central  Google Scholar 

  21. Hochberg MC (1997) Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 40:1725. https://doi.org/10.1002/1529-0131(199709)40:9%3c1725:AID-ART29%3e3.0.CO;2-Y

    Article  CAS  PubMed  Google Scholar 

  22. Bombardier C, Gladman DD, Urowitz MB et al (1992) Derivation of the SLEDAI. A disease activity index for lupus patients. The Committee on Prognosis Studies in SLE. Arthritis Rheum 35:630–640

    Article  CAS  Google Scholar 

  23. Bennett RL, French KS, Resta RG, Doyle DL (2008) Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors. J Genet Couns 17:424–433. https://doi.org/10.1007/s10897-008-9169-9

    Article  PubMed  Google Scholar 

  24. Bengtsson AA, Rylander L, Hagmar L et al (2002) Risk factors for developing systemic lupus erythematosus: a case–control study in southern Sweden. Rheumatol Oxf Engl 41:563–571. https://doi.org/10.1093/rheumatology/41.5.563

    Article  CAS  Google Scholar 

  25. Abutiban F, Mokkaddam K, Ameen E et al (2009) Comparison between familial and sporadic systemic lupus erythematosus in Kuwaiti patients. Lupus 18:86–91. https://doi.org/10.1177/0961203308094228

    Article  CAS  PubMed  Google Scholar 

  26. Shrikant K, Srinivas Goli TV, Sekher Riddhi Doshi (2013) Consanguineous marriages and their effects on pregnancy outcomes in India. Int Soc Policy 33:437–452

    Article  Google Scholar 

  27. Gourley IS, Cunnane G, Bresnihan B et al (1996) A clinical and serological comparison of familial and non-familial systemic lupus erythematosus in Ireland. Lupus 5:288–293. https://doi.org/10.1177/096120339600500408

    Article  CAS  PubMed  Google Scholar 

  28. Michel M, Johanet C, Meyer O et al (2001) Familial lupus erythematosus. Clinical and immunologic features of 125 multiplex families. Medicine (Baltimore) 80:153–158. https://doi.org/10.1097/00005792-200105000-00001

    Article  CAS  Google Scholar 

  29. Koskenmies S, Widen E, Kere J, Julkunen H (2001) Familial systemic lupus erythematosus in Finland. J Rheumatol 28:758–760

    CAS  PubMed  Google Scholar 

  30. Burgos PI, McGwin G, Reveille JD et al (2010) Is familial lupus different from sporadic lupus? Data from LUMINA (LXXIII), a multiethnic US cohort. Lupus 19:1331–1336. https://doi.org/10.1177/0961203310375264

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  31. Al-Mayouf SM, Al Sonbul A (2006) Juvenile systemic lupus erythematosus in multicase families from Saudi Arabia: comparison of clinical and laboratory variables with sporadic cases. Lupus 15:616–618. https://doi.org/10.1177/096120330607192

    Article  CAS  PubMed  Google Scholar 

  32. Abdwani R, Hira M, Al-Nabhani D, Al-Zakwani I (2011) Juvenile systemic lupus erythematosus in the Sultanate of Oman: clinical and immunological comparison between familial and non-familial cases. Lupus 20:315–319. https://doi.org/10.1177/0961203310383299

    Article  CAS  PubMed  Google Scholar 

  33. Sestak AL, Nath SK, Kelly JA et al (2008) Patients with familial and sporadic onset SLE have similar clinical profiles but vary profoundly by race. Lupus 17:1004–1009. https://doi.org/10.1177/0961203308091969

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgements

The authors would like to thank the institutional review board of Christian Medical College, Vellore for approving this study (IRB 9459) dated 5/6/2015

Funding

Internal Fluid Grant of study (IRB 9459) dated 5/6/2015 of Christian Medical College, Vellore.

Author information

Authors and Affiliations

  1. Department of Clinical Immunology and Rheumatology, Christian Medical College Hospital, Vellore, India

    Arvind Ganapati, Suvrat Arya & Debashish Danda

  2. Department of Medical Genetics, Christian Medical College Hospital, Vellore, India

    Gautham Arunachal & Sumita Danda

  3. Department of Biostatistics, Christian Medical College Hospital, Vellore, India

    Devika Shanmugasundaram & Lakshmanan Jeyaseelan

  4. Department of Child Health II, Christian Medical College Hospital, Vellore, India

    Sathish Kumar

Authors
  1. Arvind Ganapati
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Gautham Arunachal
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Suvrat Arya
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Devika Shanmugasundaram
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Lakshmanan Jeyaseelan
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Sathish Kumar
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Sumita Danda
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Debashish Danda
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Debashish Danda.

Ethics declarations

Conflict of interest

The author(s) of the manuscript declare no conflict of interest.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary material 1 (DOCX 15 kb)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Ganapati, A., Arunachal, G., Arya, S. et al. Study of familial aggregation of autoimmune rheumatic diseases in Asian Indian patients with systemic lupus erythematosus. Rheumatol Int 39, 2053–2060 (2019). https://doi.org/10.1007/s00296-019-04355-z

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00296-019-04355-z

Keywords

Search

Navigation