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Haplotype association of calpain 10 gene variants with type 2 diabetes mellitus in an Irish sample

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Abstract

Background

Calpain 10 (CAPN10) gene may contribute to the pathogenesis of type 2 diabetes mellitus (T2DM).

Aim

To examine the contribution of four CAPN10 gene variants to T2DM risk in an Irish sample.

Methods

Genotyping of marker 19 insertion–deletion (ins/del) and three CAPN10 variants, rs3792267, rs3749166 and rs5030952 at the CAPN10 gene was performed in 236 T2DM subjects and 120 controls. Allelic, genotypic and haplotype comparisons were conducted between the groups.

Results

In the examined markers, no significant differences were observed although the deletion/deletion allele tended to be more common in T2DM subjects (χ2 = 3.2, P = 0.07). A significant overrepresentation of a haplotype comprising (rs3792267), (19) and rs3749166 (χ2 = 5.3, P = 0.021) was seen in T2DM subjects. Two protective haplotypes were detected: (G-ins-G) of (rs3792267), (19) and rs3749166 (χ2 = 6.7, P = 0.009) and (ins-G-C) of (19), (rs3749166) and rs5030952 (χ2 = 8.5, P = 0.003).

Conclusions

CAPN10 gene variants may affect T2DM susceptibility in the Irish population.

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References

  1. King H, Aubert RE, Herman WH (1998) Global burden of diabetes, 1995–2025: prevalence, numerical estimates, and projections. Diabetes Care 21:1414–1431

    Article  CAS  PubMed  Google Scholar 

  2. Thabit H, Martin G, Brema I et al (2008) Immigrant patients with type 2 diabetes mellitus have poorer initial and ongoing glycemic control than a matched population of Irish patients. Ir Med J 101:177–180

    CAS  PubMed  Google Scholar 

  3. McIntyre EA, Walker M (2002) Genetics of type 2 diabetes and insulin resistance: knowledge from human studies. Clin Endocrinol (Oxf) 57:303–311

    Article  CAS  Google Scholar 

  4. Horikawa Y, Oda N, Cox NJ et al (2000) Genetic variation in the gene encoding calpain 10 is associated with type 2 diabetes mellitus. Nat Genet 26:163–175

    Article  CAS  PubMed  Google Scholar 

  5. Carafoli E, Molinari M (1998) Calpain a protease in search of a function? Biochem Biophys Res Commun 247:193–203

    Article  CAS  PubMed  Google Scholar 

  6. Huang Y, Wang KK (2001) The calpain family and human disease. Trends Mol Med 7:355–362

    Article  CAS  PubMed  Google Scholar 

  7. Saido TC, Sorimachi H, Suzuki K (1994) Calpain new perspectives in molecular diversity and physiological, pathological involvement. FASEB J 8:814–822

    CAS  PubMed  Google Scholar 

  8. Sorimachi H, Suzuki K (2001) The structure of calpain. J Biochem 129:653–664

    CAS  PubMed  Google Scholar 

  9. Sorimacho H, Ishiura S, Suzuki K (1997) Structure and physiological function of calpain. Biochem J 328:721–732

    Google Scholar 

  10. Sreenan SK, Zhou YP, Otani K et al (2001) Calpains play a role in insulin secretion and action. Diabetes 50:2013–2020

    Article  CAS  PubMed  Google Scholar 

  11. Ma H, Fukiage C, Kim YH et al (2001) Characterization and expression of Calpain 10 gene. A novel ubiquitous calpain with nuclear localization. J Biol Chem 276:28525–28531

    Article  CAS  PubMed  Google Scholar 

  12. Braun C, Engel M, Theisinger B, Welter C, Seifert M (1999) Isolation of a new calpain-isoenzyme. Biochem Biophys Res Commun 260:671–675

    Article  CAS  PubMed  Google Scholar 

  13. del Bosque-Plata L, Aguilar-Salinas CA, Tusié-Luna MT et al (2004) Association of the calpain 10 gene with type 2 diabetes mellitus in a Mexican population. Mol Genet Metab 81:122–126

    Article  CAS  PubMed  Google Scholar 

  14. Fingerlin TE, Erdos MR, Watanabe RM et al (2002) Variation in three single nucleotide polymorphisms in the calpain-10 gene not associated with type 2 diabetes in a large Finnish cohort. Diabetes 51:1644–1648

    Article  CAS  PubMed  Google Scholar 

  15. Baier LJ, Permana PA, Yang X et al (2000) A calpain 10 gene polymorphism is associated with reduced muscle mRNA levels and insulin resistance. J Clin Invest 106:R69–R73

    Article  CAS  PubMed  Google Scholar 

  16. Garant MJ, Kao WHL, Brancati F et al (2002) SNP43 of CAPN10 and the risk of type 2 diabetes in African-Americans: the atherosclerosis risk in communities study. Diabetes 51:231–237

    Article  CAS  PubMed  Google Scholar 

  17. Evans JC, Frayling TM, Cassell PG et al (2001) Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom. Am J Hum Genet 69:544–552

    Article  CAS  PubMed  Google Scholar 

  18. Horikawa Y, Oda N, Yu L, Imamura S et al (2003) Genetic variations in calpain-10 gene are not a major factor in the occurrence of type 2 diabetes in Japanese. J Clin Endocrinol Metab 88:244–247

    Article  CAS  PubMed  Google Scholar 

  19. Chen Y, Kittles R, Zhou J et al (2005) Calpain-10 gene polymorphisms and type 2 diabetes in West Africans: the Africa America Diabetes Mellitus (AADM) Study. Ann Epidemiol 15:153–159

    Article  CAS  PubMed  Google Scholar 

  20. Yan H, Yuan W, Velculescu VE, Vogelstein B, Kinzler KW (2002) Allelic variation in human gene expression. Science 297:1143

    Article  CAS  PubMed  Google Scholar 

  21. Genuth S, Alberti KG, Bennett P et al (2003) Follow-up report on the diagnosis of diabetes mellitus. Diabetes Care 26:3160–3167

    Article  PubMed  Google Scholar 

  22. Elbein S, Chu W, Ren Q et al (2002) Role of calpain-10 gene variants in familial type 2 diabetes in Caucasians. J Clin Endocrinol Metab 87:650–654

    Article  CAS  PubMed  Google Scholar 

  23. Chen SF, Lu XF, Yan WL, Haung JF, Gu DF (2007) Variations in the calpain-10 gene are associated with the increased risk of type 2 diabetes and hypertension in Northern Han Chinese. Chin Med J (Engl) 120:2218–2223

    CAS  Google Scholar 

  24. Sun HX, Zhang KX, Du WN et al (2002) Single nucleotide polymorphisms in CAPN10 gene of Chinese people and its correlation with type 2 diabetes mellitus in Han people of northern China. Biomed Environ Sci 15:75–82

    PubMed  Google Scholar 

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Conflict of interest statement

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Authors and Affiliations

  1. Department of Endocrinology, Connolly Hospital, Blanchardstwon, Dublin 15, Ireland

    F. AlSaraj, S. McAteer, J. McDermott & S. Sreenan

  2. School of Health and Human Performance, Dublin City University, Dublin, Ireland

    D. O’Gorman

  3. Trinity Centre for Health Sciences, St James’s Hospital, Dublin, Ireland

    Z. Hawi

Authors
  1. F. AlSaraj
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  2. D. O’Gorman
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  3. S. McAteer
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  4. J. McDermott
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  5. Z. Hawi
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  6. S. Sreenan
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Correspondence to F. AlSaraj.

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AlSaraj, F., O’Gorman, D., McAteer, S. et al. Haplotype association of calpain 10 gene variants with type 2 diabetes mellitus in an Irish sample. Ir J Med Sci 179, 269–272 (2010). https://doi.org/10.1007/s11845-010-0462-x

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  • DOI: https://doi.org/10.1007/s11845-010-0462-x

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