Lack of association of CTLA-4 +49 A G polymorphism with predisposition to type 1 diabetes in a cohort of Egyptian families

Abstract EN

Background : Type 1 diabetes is one of the most common chronic childhood illnesses.

Interplay between genetic susceptibility and environmental factors is thought to provide the fundamental element for the disease.

Apart from the Major Histocompatibility locus which is the main contributor to risk susceptibility, more than 40 loci are recognized.

One among these is the CTLA-4, however data from the literature are controversial.

The aim of our study was to investigate the role of CTLA4 49 A / G as a risk susceptibility factor for the development of type 1 diabetes in a cohort of Egyptian families.

Subjects and methods : This is a case control study including 88 Egyptian families with one or more index cases (<18 years).

The control group comprised 369 healthy unrelated subjects with no family history of diabetes or autoimmune disease.

Using PCR-RFLP methodology, CTLA4 49 A/G was analyzed in 738 samples representing 88 families (88 patients, 125 siblings and 156 parents) and 369 control.