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Objective: Behcet's disease tends to be more severe in men than women
.
This study aimed to investigate sex-specific genetic effects of Behçet's disease
.
Methods: A total of 1762 male and 1216 female Behçet disease patients from six different populations were studied, most of them from Turkey
.
Genotyping was performed using the Infinium ImmunoArray-24 BeadChip, or extracted from available genotyping data
.
After imputation and extensive quality control measures, a genome-wide association analysis was performed on male and female patients in the Turkish cohort, followed by a meta-analysis of significant outcomes across all six populations
.
In addition, weighted genetic risk scores for Behçet's disease in male and female patients were calculated and compared
.
Results: Genetic association analysis comparing male and female patients with Turkish Behçet disease showed that males in HLA-B/MICA within the HLA region were associated with a significant level of GWAS (rs2848712, OR=1.
46, P=1.
22× 10-8 )
.
A meta-analysis of the effects of rs2848712 in six populations confirmed these results
.
Compared with female patients from Turkey, males had a significantly higher genetic risk score for Behçet's disease than females
.
A higher genetic risk of Behçet's disease was observed in male patients, HLA-B/MICA (rs116799036, OR=1.
45, P=1.
95×10 -8 ), HLA-C (rs12525170, OR=1.
46, P=5.
66× 10 -7 ) and KLRC4 (rs2617170, OR=1.
20, P=0.
019)
.
In contrast, IFNGR1 (rs4896243, OR = 0.
86, P = 0.
011) was shown to have a higher genetic risk in female patients
.
Conclusions: Male patients with Behçet's disease have a higher genetic risk compared with female patients
.
This genetic difference was mainly from the Turkish cohort and was mainly explained by the risk within the HLA region
.
These data suggest that genetic factors may contribute to differences in disease presentation between male and female Behçet disease patients
.
Original source:
Yun Gun Jo, Lourdes Ortiz Fernández, Patrick Coit, et al.
Sex-specific analysis in Behçet's disease reveals higher genetic risk in male patients, Journal of Autoimmunity, Volume 132, 2022,102882, ISSN 0896-8411, https://doi .
org/10.
1016/j.
jaut.
2022.
102882.
