Abstract:
:Each functional gene illustrates the complexity of genetic predisposition to disease; however, it is difficult to bring out these traits with reference to autoimmune diseases like type 1 diabetes (T1D). To find out the genetic contribution of CTLA-4 + 49A/G, CTLA-4 -318C/T and CD28 + 17T/C polymorphisms toward T1D, the present study was performed with 124 T1D patients, 54 siblings and 125 parents including 39 trios in South Indian population. The association and linkage of CTLA-4 + 49A/G, CTLA-4 -318C/T and CD28 + 17T/C polymorphisms with T1D were analyzed and transmission disequilibrium test was performed. CTLA-4 G allele carrying genotypes (GG+AG) showed a higher risk association and can be considered as susceptible to develop T1D among patients with age at diagnosis from 0 to 10 years as compared to siblings (OR = 2.9; pc = 0.047) and parents (OR = 2.7; pc = 0.036). On the other hand, a strong protection against the disease (age at diagnosis; 0-10 years) was observed with CTLA-4 + 49AA genotype (OR = 0.37; pc = 0.036) and combined AA/CC genotype (OR = 0.31; pc = 0.034) of CTLA-4 + 49A/G and CTLA-4 -318C/T polymorphisms. However, a significant association was not observed between CTLA-4 -318C/T and CD28 + 17T/C polymorphisms and T1D. This family-based study reports a strong association between possible genotypes of CTLA-4 gene polymorphism and T1D in South Indian population, particularly in younger individuals.
journal_name
Immunol Investjournal_title
Immunological investigationsauthors
Gunavathy N,Asirvatham A,Chitra A,Jayalakshmi Mdoi
10.1080/08820139.2019.1590395subject
Has Abstractpub_date
2019-08-01 00:00:00pages
659-671issue
6eissn
0882-0139issn
1532-4311journal_volume
48pub_type
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