PTPN22 Gene Variant and Type 1 Diabetes in Spain
Author Information
Author(s): Santiago Jose Luis, Martínez Alfonso, de la Calle Hermenegildo, Fernández-Arquero Miguel, Figueredo M Ángeles, de la Concha Emilio G, Urcelay Elena
Primary Institution: Hospital Universitario San Carlos, Madrid, Spain
Hypothesis
Does the PTPN22 C1858T polymorphism confer susceptibility to type 1 diabetes in the Spanish population?
Conclusion
The PTPN22 1858T allele is associated with an increased risk of developing type 1 diabetes in the Spanish population, particularly in females with early-onset diabetes.
Supporting Evidence
- The PTPN22 1858T allele was found to increase the risk of T1D.
- The study confirmed previous findings of the association of PTPN22 with T1D in other populations.
- Significant association was observed in female patients with diabetes onset before age 16 years.
Takeaway
A specific gene variant can make people more likely to get type 1 diabetes, especially girls who get it at a young age.
Methodology
A case-control study with genotyping of the PTPN22 C1858T SNP in 316 T1D patients and 554 healthy controls.
Potential Biases
Potential bias in participant selection as all subjects were from the Madrid area.
Limitations
The study is limited to a specific population and may not be generalizable to other ethnic groups.
Participant Demographics
316 Spanish white T1D patients (159 women and 157 men) and 554 healthy controls.
Statistical Information
P-Value
0.004
Confidence Interval
1.17–2.54
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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