Jia-Feng Wu

Background: Biliary atresia (BA) is the leading cause of pediatric liver transplantation worldwide. However, the genetic background remains unclear in most patients. In this genome‐wide association study (GWAS), we aimed to identify genetic loci that contribute to susceptibility to BA. Methods: We recruited 189 BA patients (85 males and 104 females) and 558 non‐BA controls (275 males and 283 females) for this GWAS analysis using the Axiom Genome‐Wide TWB 2.0 Array with 686,463 single‐nucleotide polymorphisms (SNPs). The MassARRAY Sequenom analysis was then applied to validate the identified top SNPs. Results: We identified rs139120621 (odds ratio [OR] = 17.31, p = 2.78 × 10 ⁻⁹ ) at 8q22.1, which is mapped to the FLJ46284 gene, significantly correlated with BA in this Taiwanese cohort. The rs113128512 located at chromosome 4q32.1 (OR = 9.13, p = 1.30 × 10 ⁻⁶ ), and rs11193325 (OR = 1.85, p = 8.20 × 10 ⁻⁶ ) at 10q25.1 are also associated with BA. The rs113128512 is mapped to the PDGFC gene, and rs11193325 is downstream of the SORCS1 gene. Conclusions: We identified novel loci of BA susceptibility SNPs in a Taiwanese cohort by the GWAS analysis. These findings shed light on the genetic factors in the pathophysiology of BA that might be applied to the future development of therapeutic agents for BA patients.

Background and Aim: Fecal incontinence severely deteriorates normal social function and quality of life. We investigated the relationship between short squeeze contractile integral (SSCI), endurance squeeze contractile integral (ESCI) of high‐resolution anorectal manometry (HRAM), and Vaizey incontinence score in adults.Methods: We performed HRAM in 45 adults (26 females and 19 males), and all subjects completed the Vaizey incontinence score questionnaire after enrollment in this prospective study. The diagnosis of fecal incontinence is defined by Rome IV criteria and a Vaizey incontinence score > 5. The contraction power during short and endurance squeezes was quantified by calculating the SSCI and ESCI in the HRAM study.Results: Patients in the incontinence group (n = 12) had significantly lower maximum pressure at short squeeze, SSCI, and ESCI (p = 0.001 and 0.004, respectively) than patients in the continence group (n = 33). The ROC curve analysis identified the SSCI < 65 000 mmHg·s·cm achieved the highest area under the curve for predicting fecal incontinence than the ESCI and the maximum pressure at short squeeze maneuver (77.30%, 74.00%, and 71.15%, respectively). The logistic regression further confirms the SSCI < 65 000 mmHg·s·cm is associated with fecal incontinence after adjusting age and sex (odds ratio = 7.30, p = 0.009).Conclusions: The novel SSCI indicates the adequacy of contraction power during short squeeze by HRAM in adult patients and correlates with fecal incontinence. The correlation between SSCI and Vaizey incontinence score is higher than the traditional measurement of HRAM in adults with fecal incontinence.

Darma A, et al. Pediatr Gastroenterol Hepatol Nutr. 2025 Mar;28(2):76-85. https://doi.org/10.5223/pghn.2025.28.2.76