[Association between CTLA-4 gene polymorphism and Henoch-Schönlein purpura in children]
Hong-Hong Hou1, Yan-Ping Huang, Li Liu
1Department of Pediatrics, Xi'an Central Hospital, Xi'an 710003, China. huangyp423@126.com.
Insights
Cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) gene polymorphisms were studied in children with Henoch-Schönlein purpura (HSP). The CTLA-4 -1722 C allele and CC genotype may increase the risk of HSP nephritis (HSPN).
Area of Science:
- Immunogenetics
- Pediatric Nephrology
- Rheumatology
Background:
- Henoch-Schönlein purpura (HSP) is a common childhood vasculitis.
- The role of genetic factors, specifically CTLA-4 gene polymorphisms, in HSP pathogenesis remains unclear.
- Understanding genetic predispositions can aid in identifying at-risk individuals and developing targeted therapies.
Purpose of the Study:
- To investigate the association between CTLA-4 gene polymorphisms at the +49 and -1722 loci and the risk of developing HSP in children.
- To determine if specific CTLA-4 genotypes or alleles are linked to the presence of nephritis in HSP patients (HSPN).
Main Methods:
- A case-control study involving 60 children with HSP and 30 healthy controls.
- Genotyping for CTLA-4 +49 A/G and -1722 T/C polymorphisms using polymerase chain reaction-restriction fragment length polymorphism.
- Statistical analysis of genotype and allele frequencies, comparing HSP cases with controls and HSPN subgroups.
Main Results:
- No significant association was found between CTLA-4 +49 A/G polymorphism and HSP.
- CTLA-4 -1722 T/C polymorphism showed significant differences in CC genotype and C allele frequencies between HSPN and non-HSPN groups.
- A combination of GG at +49 and CC at -1722 demonstrated a significant association with HSPN.
Conclusions:
- CTLA-4 +49 A/G polymorphism is not associated with HSP in the studied pediatric population.
- CTLA-4 -1722 CC genotype and C allele, along with the combined GG (+49)/CC (-1722) genotype, may serve as potential risk factors for developing HSP nephritis.
Objective:
To investigate the association between CTLA-4 gene polymorphism and Henoch-Schönlein purpura (HSP) in children.
Methods:
Sixty children who were diagnosed with HSP were enrolled as the case group, consisting of 33 males and 27 females. Thirty healthy children were enrolled as the control group. The patients were further divided into HSP nephritis (HSPN) and non-HSPN groups (n=30 each) according to the presence or absence of nephritis. Polymerase chain reaction-restriction fragment length polymorphism was used to analyze the genotype and allele frequencies at +49 and -1722 loci.
Results:
AA, AG, and GG genotypes were detected at +49; neither genotype nor allele frequencies showed significant differences between the case and control groups, between the HSPN and non-HSPN groups, and between male and female patients (P>0.05). TT, TC, and CC genotypes were detected at -1722; neither genotype nor allele frequencies showed significant differences between the case and control groups and between male and female patients (P>0.05). There were significant differences in CC genotype frequency and T and C allele frequencies between the HSPN and non-HSPN groups (P<0.05). Combinational analysis of +49 A/G and -1722 T/C showed no significant differences in the genotype frequency between the case and control groups and between male and female patients (P>0.05). GG-CC combination showed a significant difference between the HSPN and non-HSPN groups (P<0.05).
Conclusions:
CTLA-4 +49 A/G polymorphism is not associated with HSP. CC genotype and C allele of CTLA-4 -1722 and the combination of GG at +49 A/G and CC at -1722 T/C may be risk factors for HSPN.
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