Bidirectional mendelian randomization study on the causal relationship between autism spectrum disorder and chronic pancreatitis
10.3760/cma.j.cn115667-20250302-00026
- VernacularTitle:孤独症谱系障碍与慢性胰腺炎因果关系的双向孟德尔随机化研究
- Author:
Fangzhou WANG
1
;
Ruiqi CAO
1
;
Cancan ZHOU
1
;
Zheng WANG
1
;
Zheng WU
1
Author Information
1. 西安交通大学第一附属医院肝胆外科 西安交通大学胰腺疾病诊疗中心，西安 710061
- Publication Type:Journal Article
- Keywords:
Autism spectrum disorder;
Chronic pancreatitis;
Mendelian randomization;
Genome-wide association study;
Risk factor
- From:
Chinese Journal of Pancreatology
2025;25(5):362-366
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To evaluate the causal relationship between autism spectrum disorder (ASD) and chronic pancreatitis (CP) using a bidirectional two-sample Mendelian randomization (MR) analysis.Methods:Based on genome-wide association study (GWAS) data, forward and reverse two-sample MR analyses were conducted to examine the causal relationship between ASD and CP. Single-nucleotide polymorphisms (SNPs) reaching genome-wide significance were selected from the GWAS data as candidate instrumental variables, and the Steiger directionality test was used to confirm the causal direction. The inverse-variance weighted (IVW) method was applied as the primary analysis to estimate the causal effect of the exposure on the outcome. MR-Egger regression and weighted median methods were used as supplementary sensitivity analyses to assess the robustness of the results. Pleiotropy and heterogeneity tests were performed to evaluate the reliability of the findings.Results:The forward MR analysis ultimately identified 29 SNPs. The IVW analysis indicated that ASD had a significant positive causal effect on CP risk ( OR=1.197, 95% CI 1.047-1.368, P=0.008), with no evidence of horizontal pleiotropy or significant heterogeneity. In the reverse MR analysis, 17 SNPs were included; the IVW analysis did not detect a significant causal effect of CP on ASD ( OR=0.990, 95% CI 0.935-1.047, P=0.717), also with no evidence of horizontal pleiotropy or significant heterogeneity. Causal effect estimates from MR-Egger regression and weighted median analyses were generally consistent with those of IVW. Conclusions:These findings indicate that, at the level of genetic susceptibility, ASD is a risk factor for CP.
