Objectives: Associations of ABO blood group specifying transferases A/B (ABO) and fucosyltransferase 2 (FUT2) with CP remain inconclusive. We aimed to comprehensively investigate the associations by Chinese sequencing cohorts and external cohorts.
Methods: First, we analyzed the distributions of ABO blood groups and FUT2 status, along with lead single nucleotide polymorphisms (SNPs) at ABO (rs8176693 C/T) and FUT2 (rs632111 A/G) gene loci in Chinese low-coverage whole-genome sequencing discovery cohort. Subsequently, we investigated the associations of CP with ABO and FUT2 SNPs in Chinese whole-exome sequencing validation cohort and three public biobanks (FinnGen, UK Biobank, and BioBank Japan). Finally, comprehensive meta-analysis was performed by integrating data from two Chinese cohorts, reported cohorts and public biobanks.
Results: Firstly, in Chinese discovery cohort, the distribution of blood types in CP patients showed no significant difference compared to healthy controls, and similar results were observed in subgroup analyses and in meta-analysis with the reported cohorts. Secondly, results indicated no association between rs8176693 or rs632111 and CP in Chinese cohorts and meta-analysis of three biobanks, though ABO SNP was found to be significantly associated with CP in UK Biobank (odds ratio [OR] = 1.27, P = 0.04). Finally, no association was observed between rs8176693 (OR = 1.03, P = 0.29) or rs632111 (OR = 1.04, P = 0.10) and CP in comprehensive meta-analysis.
Conclusions: No association was found between lead SNPs of ABO or FUT2 and CP in meta-analysis, nor was there an association between ABO blood group or FUT2 secretor status and CP in Chinese cohort. ABO and FUT2 might play limited role in CP development.
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http://dx.doi.org/10.1016/j.pan.2024.12.016 | DOI Listing |
Pancreatology
December 2024
Department of Gastroenterology, National Clinical Research Center for Digestive Diseases, Changhai Hospital, Naval Medical University, Shanghai, 200433, China. Electronic address:
Objectives: Associations of ABO blood group specifying transferases A/B (ABO) and fucosyltransferase 2 (FUT2) with CP remain inconclusive. We aimed to comprehensively investigate the associations by Chinese sequencing cohorts and external cohorts.
Methods: First, we analyzed the distributions of ABO blood groups and FUT2 status, along with lead single nucleotide polymorphisms (SNPs) at ABO (rs8176693 C/T) and FUT2 (rs632111 A/G) gene loci in Chinese low-coverage whole-genome sequencing discovery cohort.
Transfusion
December 2024
Graduate Program in Biomedical Sciences, Faculty of Allied Health Sciences, Thammasat University, Pathumtani, Thailand.
Background: Reduced or absent H antigens on red cells with the (para-)Bombay phenotype can arise from FUT1 gene mutations, impacting the structure and function of 1,2-L-fucosyltransferase 1 (1,2-L-FucT1). Here, we identified the novel mutations in one patient displaying the para-Bombay phenotype and examined the potential molecular mechanisms underlying this phenotype.
Materials And Methods: ABH antigens and antibodies were detected in patient's blood and saliva using serological methods.
Wiad Lek
September 2024
ORAL DIAGNOSTIC SCIENCES DEPARTMENT-ORAL MEDICINE, COLLEGE OF DENTISTRY, UNIVERSITY OF BAGHDAD, BAGHDAD, IRAQ.
Objective: Aim: To find any association between specific ABO blood groups and FUT2 secretory status and COVID-19 in a sample of Iraqi dentists.
Patients And Methods: Materials and Methods: For each participant, a questionnaire including demography, COVID-19 status, blood grouping, and RH factor, with chemo-sensitive symptoms was recorded. The saliva samples were collected and DNA was extracted from leukocytes.
Indian J Hematol Blood Transfus
July 2024
Transfusion Department, Chongqing Medical University Affiliated Second Hospital, Linjiang Road 74#,Yu Zhong District, Chongqing, 400010 China.
H-antigen deletion is often caused by FUT1 gene mutation, which is a very rare blood group. In this case, the H-antigen phenotype, FUT1, FUT2 sequences, and family genetic investigation of a 26-year-old patient (proband) and her three family members were studied. The results showed that the proband and little her brother were H-deficient phenotype, their ABO genotype of both was A/O1, her father was A/B, and her mother was O1/O1.
View Article and Find Full Text PDFNat Med
June 2024
Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Fibrotic diseases affect multiple organs and are associated with morbidity and mortality. To examine organ-specific and shared biologic mechanisms that underlie fibrosis in different organs, we developed machine learning models to quantify T1 time, a marker of interstitial fibrosis, in the liver, pancreas, heart and kidney among 43,881 UK Biobank participants who underwent magnetic resonance imaging. In phenome-wide association analyses, we demonstrate the association of increased organ-specific T1 time, reflecting increased interstitial fibrosis, with prevalent diseases across multiple organ systems.
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