Skip to main content

Advertisement

SpringerLink
Log in

Genetic link of type 1 diabetes susceptibility loci with rheumatoid arthritis in Pakistani patients

  • Original Paper
  • Published:
Immunogenetics Aims and scope Submit manuscript

An Erratum to this article was published on 05 June 2015

Abstract

Rheumatoid arthritis (RA) and type 1 diabetes (T1D) are two autoimmune disorders that have been reported to co-occur in the same subjects or in different subjects from the same family. This suggests the sharing of disease susceptibility loci between RA and T1D. This study was aimed to find out such susceptibility loci that are common in both T1D and RA in Pakistani population. A total of 366 Pakistanis comprising related and unrelated RA cases and controls were recruited. Blood samples were collected from all patients followed by DNA isolation. Thirty-one single-nucleotide polymorphisms (SNPs) previously reported to be associated with T1D were genotyped in RA cases and controls using TaqMan SNP genotyping assays. Data was analyzed using FamCC software. We have identified seven SNP associations that survived multiple testing corrections using false discovery rate: SKAP2/rs7804356 (p = 2.47E-04), GLIS3/rs7020673 (p = 2.86E-04), GSDMB/rs2290400 (p = 23.48E-04), BACH2/rs11755527 (p = 9.16E-04), C6orf173/ rs9388489 (p = 3.11E-03), PRKCQ/DKFZp667F0711/ rs947474 (p = 4.53E-03), and DLK1/ rs941576 (p = 9.51E-03). Our results support the presence of overlapping loci between RA and T1D in Pakistani patients.

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

  • Agrawal S, Desai MP (2003) Simultaneous occurrence of type I diabetes mellitus and juvenile rheumatoid arthritis. Indian Pediatr 40:568–571

    PubMed  Google Scholar 

  • Akhter E, Bilal S, Kiani A, Haque U (2011) Prevalence of arthritis in India and Pakistan: a review. Rheumatol Int 31:849–855

    Article  PubMed  Google Scholar 

  • Arnett FC, Edworthy SM, Bloch DA, McShane DJ, Fries JF, Cooper NS, Healey LA, Kaplan SR, Liang MH, Luthra HS et al (1988) The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis. Arthritis Rheum 31:315–324

    Article  CAS  PubMed  Google Scholar 

  • Barrett JC, Clayton DG, Concannon P, Akolkar B, Cooper JD, Erlich HA, Julier C, Morahan G, Nerup J, Nierras C, Plagnol V, Pociot F, Schuilenburg H, Smyth DJ, Stevens H, Todd JA, Walker NM, Rich SS (2009) Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. Nat Genet 41:703–707

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Becker C, Barbulescu K, Hildner K, Meyer zum Buschenfelde KH, Neurath MF (1998) Activation and methotrexate-mediated suppression of the TNF alpha promoter in T cells and macrophages. Ann N Y Acad Sci 859:311–314

    Article  CAS  PubMed  Google Scholar 

  • Boscolo P, Youinou P, Theoharides TC, Cerulli G, Conti P (2008) Environmental and occupational stress and autoimmunity. Autoimmun Rev 7:340–343

    Article  CAS  PubMed  Google Scholar 

  • Burn GL, Svensson L, Sanchez-Blanco C, Saini M, Cope AP (2011) Why is PTPN22 a good candidate susceptibility gene for autoimmune disease? FEBS Lett 585:3689–3698

    Article  CAS  PubMed  Google Scholar 

  • de Vries R (2011) Genetics of rheumatoid arthritis: time for a change! Curr Opin Rheumatol 23:227–232

    Article  PubMed  Google Scholar 

  • Ding K, Kullo IJ (2011) Geographic differences in allele frequencies of susceptibility SNPs for cardiovascular disease. BMC Med Genet 12:55

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • du Montcel ST, Michou L, Petit-Teixeira E, Osorio J, Lemaire I, Lasbleiz S, Pierlot C, Quillet P, Bardin T, Prum B, Cornelis F, Clerget-Darpoux F (2005) New classification of HLA-DRB1 alleles supports the shared epitope hypothesis of rheumatoid arthritis susceptibility. Arthritis Rheum 52:1063–1068

  • Eyre S, Hinks A, Bowes J, Flynn E, Martin P, Wilson AG, Morgan AW, Emery P, Steer S, Hocking LJ, Reid DM, Harrison P, Wordsworth P, Thomson W, Worthington J, Barton A (2010) Overlapping genetic susceptibility variants between three autoimmune disorders: rheumatoid arthritis, type 1 diabetes and coeliac disease. Arthritis Res Ther 12:R175

    Article  PubMed Central  PubMed  Google Scholar 

  • Gregersen PK, Silver J, Winchester RJ (1987) The shared epitope hypothesis. An approach to understanding the molecular genetics of susceptibility to rheumatoid arthritis. Arthritis Rheum 30:1205–1213

  • Igarashi K, Ochiai K, Itoh-Nakadai A, Muto A (2014) Orchestration of plasma cell differentiation by Bach2 and its gene regulatory network. Immunol Rev 261:116–125

    Article  CAS  PubMed  Google Scholar 

  • Invernizzi P, Gershwin ME (2009) The genetics of human autoimmune disease. J Autoimmun 33:290–299

    Article  CAS  PubMed  Google Scholar 

  • Joshi VR (2003) Arthritis in the elderly. J Indian Med Assoc 101:408, 410, 412 passim

    CAS  PubMed  Google Scholar 

  • Liao KP, Gunnarsson M, Källberg H, Ding B, Plenge RM, Padyukov L, Karlson EW, Klareskog L, Askling J, Alfredsson L (2009) A specific association exists between type 1 diabetes and anti-CCP positive rheumatoid arthritis. Arthritis Rheum 3:653–660

    Article  Google Scholar 

  • Lichti-Kaiser K, ZeRuth G, Jetten AM (2014) Transcription factor Gli-similar 3 (Glis3): implications for the development of congenital hypothyroidism. J Endocrinol Diabetes Obes 2:1024

    PubMed Central  PubMed  Google Scholar 

  • Lleo A, Battezzati PM, Selmi C, Gershwin ME, Podda M (2008) Is autoimmunity a matter of sex? Autoimmun Rev 7:626–630

    Article  CAS  PubMed  Google Scholar 

  • Marinho S, Custovic A, Marsden P, Smith JA, Simpson A (2012) 17q12-21 variants are associated with asthma and interact with active smoking in an adult population from the United Kingdom. Ann Allergy Asthma Immunol 108(402–411), e9

    PubMed  Google Scholar 

  • Munakata Y, Kodera T, Saito T, Sasaki T (2005) Rheumatoid arthritis, type 1 diabetes, and Graves’ disease after acute parvovirus B19 infection. Lancet 366:780

    Article  PubMed  Google Scholar 

  • Nejentsev S, Howson JM, Walker NM, Szeszko J, Field SF, Stevens HE, Reynolds P, Hardy M, King E, Masters J, Hulme J, Maier LM, Smyth D, Bailey R, Cooper JD, Ribas G, Campbell RD, Clayton DG, Todd JA (2007) Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A. Nature 450:887–892

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Nogueira TC, Paula FM, Villate O, Colli ML, Moura RF, Cunha DA, Marselli L, Marchetti P, Cnop M, Julier C, Eizirik DL (2013) GLIS3, a susceptibility gene for type 1 and type 2 diabetes, modulates pancreatic beta cell apoptosis via regulation of a splice variant of the BH3-only protein Bim. PLoS Genet 9, e1003532

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • O’Connell JR, Weeks DE (1998) PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 63:259–266

    Article  PubMed Central  PubMed  Google Scholar 

  • Parkes M, Cortes A, van Heel DA, Brown MA (2013) Genetic insights into common pathways and complex relationships among immune-mediated diseases. Nat Rev Genet 14:661–673

    Article  CAS  PubMed  Google Scholar 

  • Shera AS, Miyan Z, Basit A, Maqsood A, Ahmadani MY, Fawwad A, Riaz M (2008) Trends of type 1 diabetes in Karachi, Pakistan. Pediatr Diabetes 9:401–406

    Article  PubMed  Google Scholar 

  • Smyth DJ, Plagnol V, Walker NM, Cooper JD, Downes K, Yang JH, Howson JM, Stevens H, McManus R, Wijmenga C, Heap GA, Dubois PC, Clayton DG, Hunt KA, van Heel DA, Todd JA (2008) Shared and distinct genetic variants in type 1 diabetes and celiac disease. N Engl J Med 359:2767–2777

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Somers EC, Thomas SL, Smeeth L, Hall AJ (2006) Autoimmune diseases co-occurring within individuals and within families: a systematic review. Epidemiology 17:202–217

    Article  PubMed  Google Scholar 

  • Symmons DP (2002) Epidemiology of rheumatoid arthritis: determinants of onset, persistence and outcome. Best Pract Res Clin Rheumatol 16:707–722

    Article  PubMed  Google Scholar 

  • Torfs CP, King MC, Huey B, Malmgren J, Grumet FC (1986) Genetic interrelationship between insulin-dependent diabetes mellitus, the autoimmune thyroid diseases, and rheumatoid arthritis. Am J Hum Genet 38:170–187

    CAS  PubMed Central  PubMed  Google Scholar 

  • Zonana MF, Reyes E, Weisman AK (2002) Coexistence of four autoimmune diseases in one patient: the kaleidoscope of autoimmunity. J Clin Rheumatol 8:322–325

    Article  PubMed  Google Scholar 

Download references

Acknowledgments

We acknowledge Higher Education Commission for supporting this study within the Pakistan as well as for International Research Support Initiative Program (IRSIP) awarded to Miss Aysha Kiani for University of Pittsburgh, USA. We are thankful to all the physicians for referring the patients and supporting staff for the collection of blood samples. We are also grateful to the patients, control individuals and their family members for their participation and cooperation in this study.

Conflict of interest

All the authors declared that they have no competing interests.

Funding sources

Funds are provided by Higher Education Commission, Islamabad, Pakistan.

Author information

Authors and Affiliations

  1. Atta ur Rahman School of Applied Biosciences, National University of Sciences and Technology, Sector H-12, Islamabad, Pakistan

    Aysha Karim Kiani, Sidrah Jahngir, Peter John, Attya Bhatti & Asima Zia

  2. Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA

    Xingbin Wang, F. Yesim Demirci & M. Ilyas Kamboh

Authors
  1. Aysha Karim Kiani
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Sidrah Jahngir
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Peter John
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Attya Bhatti
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Asima Zia
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Xingbin Wang
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. F. Yesim Demirci
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. M. Ilyas Kamboh
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Peter John.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Kiani, A.K., Jahngir, S., John, P. et al. Genetic link of type 1 diabetes susceptibility loci with rheumatoid arthritis in Pakistani patients. Immunogenetics 67, 277–282 (2015). https://doi.org/10.1007/s00251-015-0839-0

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00251-015-0839-0

Keywords

Search

Navigation