Complement C1q and C2 polymorphisms are not risk factors for SLE in Indian Tamils
Panneer Devaraju1, Benita Nancy Reni1, Reena Gulati2
1Department of Clinical Immunology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry 605006, India.
Immunobiology
|March 18, 2014
Summary
Genetic variations in C1qA and C2 genes are uncommon in South Indian Tamils with Systemic Lupus Erythematosus (SLE). These specific polymorphisms do not appear to be risk factors for developing SLE in this population.
Area of Science:
- Immunology
- Genetics
Background:
- The complement system, crucial for innate immunity, helps clear pathogens and cellular debris, preventing autoimmunity.
- Deficiencies in complement components are linked to severe infections and lupus-like syndromes.
- Genetic defects in complement genes can lead to complement deficiency.
Purpose of the Study:
- To investigate if C1q and C2 gene polymorphisms are risk factors for Systemic Lupus Erythematosus (SLE) in South Indian Tamils.
Main Methods:
- Genomic DNA from 300 SLE patients and 460 healthy controls was analyzed.
- Two polymorphisms were screened: C1qA exon 2 C/T transition (rs121909581) using PCR-RFLP and C2 sixth exon 28bp deletion using PCR.
Main Results:
- The homozygous CC genotype for C1q exon 2 C/T polymorphism was most frequent in both SLE patients and controls.
- A single SLE patient exhibited the heterozygous CT variant; no controls did.
- The 28bp deletion variant of the C2 gene was absent in all participants.
Conclusions:
- C1qA exon 2 C/T and C2 sixth exon 28bp deletion polymorphisms are rare in South Indian Tamil SLE patients.
- These specific genetic variations do not appear to be susceptibility factors for SLE in this ethnic group.
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