Sequencing and association analysis of the type 1 diabetes – linked region on chromosome 10p12-q11
2007

Genetic Study of Type 1 Diabetes on Chromosome 10

Sample size: 2857 publication Evidence: low

Author Information

Author(s): Sergey Nejentsev, Luc J Smink, Deborah Smyth, Rebecca Bailey, Christopher E Lowe, Felicity Payne, Jennifer Masters, Lisa Godfrey, Alex Lam, Oliver Burren, Helen Stevens, Sarah Nutland, Neil M Walker, Anne Smith, Rebecca Twells, Bryan J Barratt, Charmain Wright, Lisa French, Yuan Chen, Panagiotis Deloukas, Jane Rogers, Ian Dunham, John A Todd

Primary Institution: Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge

Hypothesis

Can we identify genes associated with type 1 diabetes in the IDDM10 region on chromosome 10?

Conclusion

Polymorphisms in the CREM and SDF1 genes have no major effect on type 1 diabetes, and the weak association near the PAPD1 gene may be spurious or indicate a small genuine effect.

Supporting Evidence

  • The study identified 12,058 SNPs in the IDDM10 region.
  • 303 SNPs and 25 polymorphic microsatellite markers were genotyped in T1D families.
  • Weak associations were found near the PAPD1 gene.
  • The study included a large sample of T1D families and controls.

Takeaway

The study looked for genes that might cause type 1 diabetes but found that two specific genes didn't have a big impact, and any link found might just be a coincidence.

Methodology

The study involved resequencing candidate genes and genotyping SNPs in T1D families and controls.

Limitations

The association signals did not reach genome-wide significance levels, indicating potential limitations in detecting small genetic effects.

Participant Demographics

Caucasian ethnic group, including families from the UK, USA, Norway, and Romania.

Statistical Information

P-Value

0.037

Confidence Interval

95% CI = 0.87–1.16

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1186/1471-2156-8-24

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