Dry Eye Syndrome, Healthy Control, Sjögren's Syndrome and Other Inflammation Disease in Taiwan Biobank

The Comprehensive Analysis of Health Records, TCM Constitution, Biomarker, and Whole-genome Sequencing Among Dry Eye Syndrome, Healthy Control, Sjögren's Syndrome and Other Inflammation Disease in Taiwan

The comprehensive analysis of health records, TCM constitution, biomarker, and whole-genome sequencing among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease in Taiwan: an integrated analysis between Taiwan Biobank and Sjögren's syndrome Database

Study Overview

• Status: Not yet recruiting
• Conditions: Inflammation; Sjogren's Syndrome; Dry Eye Syndrome; Healthy Control
• Intervention / Treatment: Diagnostic test: Whole-genome genotyping; Diagnostic test: Whole-genome sequencing; Diagnostic test: TCM pattern; Diagnostic test: DNA Exome sequencing; Diagnostic test: Physical examination indicators, blood, urine and biochemical function test; Diagnostic test: Demographics, personal health behavior, living environment, dietary status, family history; Diagnostic test: HLA typing; Diagnostic test: Full-length 16S Amplicon Sequencing; Diagnostic test: Epigenomic; Diagnostic test: Metabolomics; Diagnostic test: Environmental Toxic; Diagnostic test: Medical Image

Detailed Description

Method: This study wants to apply the dataset of health records, physical examination indicators, blood biomarker, urine biomarker, biochemical biomarker, gene sequence, and metabolome from Taiwan Biobank Database to explore the difference among dry eye syndrome (DES), healthy control (HC), and other inflammation disease (ID). In addition, we want to investigate the difference among the demographics, personal health behavior, living environment, dietary status, family history, Traditional Chinese medicine (TCM) body constitution, hematology test, serum biochemical test, virus test, and urine test. We also want to use the whole-genome genotyping, whole-genome sequencing, DNA methylation, HLA typing, and metabolome to investigate the difference among the genetic variant, gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences. It could find the pathogenesis-associated candidate genes and sites, and could apply to clinical diagnosis and drug development after verification and confirmation of efficacy. Integrated the Sjögren's syndrome (SJS) database, we could explore the comprehensive analysis among DES, HC, SJS, and ID. It would provide the evidence-base medicine in TCM in the future.

Expected Results:

1. To evaluate the difference among questionnaire, physical examination indicators, blood biomarker, urine biomarker and biochemical biomarker for the DES, HC, and ID.
2. To evaluate the difference among gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences for the DES, HC, and ID.
3. To evaluate the difference among gene variation and TCM body constitution for the DES, HC, and ID.
4. To evaluate the difference among gene variation for the DES, HC, SJS, and ID.
5. To establish predicting modal and biomarker among DES.

• Study Type: Observational
• Enrollment (Anticipated): 100000

Contacts and Locations

• Study Contact: Name: Ching-Mao Chang, M.D., Ph.D.; Phone Number: 333 88628757453; Email: magicbjp@gmail.com

Study Locations

• Taiwan
  • Taiwan (r.o.c.)
    • Taipei, Taiwan (r.o.c.), Taiwan, 112
      • Ching-Mao Chang
      • Contact: Ching-Mao Chang, M.D., Ph.D.
      • Sub-Investigator: Yen-Wenn Liu, Ph.D.
      • Sub-Investigator: Hsueh-Ting Chu, Ph.D.

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 73 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

Health Subjects

Inclusion Criteria:

1. aged 20 and 75 years
2. had no chronic inflammatory illness.

Exclusion Criteria:

1. a history of alcohol abuse, diabetes mellitus, or major life-threatening condition
2. pregnancy or breastfeeding
3. abnormal findings of immune, liver, kidney, or blood function evaluations
4. total sleeping time insufficiency less than 6 hours before one day of enrollment
5. ever took the conventional medicine or hormone within one month
6. ever encountered the acute illness, allergy reaction, immune, or rheumatic disease within one month.

Description

Sjögren's syndrome

Inclusion Criteria:

1. aged between 20 and 75 years
2. fulfilled the 2002 American-European Consensus Criteria for SS (AECG) Exclusion Criteria: NA

Dry eye syndrome

Inclusion Criteria:

1. aged between 20 and 75 years
2. Schirmer's test less than 10 mm/5 min Exclusion Criteria: NA

Inflammation disease

Inclusion Criteria:

1. aged between 20 and 75 years
2. Disease diagnosed with Inflammation Exclusion Criteria: NA

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Retrospective

Number of groups / cohorts

4

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Dry eye syndrome; Dry eye syndrome patients were extracted from Taiwan Biobank.	Diagnostic test: Whole-genome genotyping; Using Whole-genome genotyping from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease.; Diagnostic test: Whole-genome sequencing; Using whole-genome sequencing from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease to investigate the difference among the genetic variant, gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences.; Diagnostic test: TCM pattern; We want to use TCM pattern to investigate the difference among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease.; Diagnostic test: DNA Exome sequencing; The DNA of dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease will take to do the DNA Exome sequencing.; Diagnostic test: Physical examination indicators, blood, urine and biochemical function test; To investigate the difference of Physical examination indicators, blood, urine and biochemical function test among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease.; Diagnostic test: Demographics, personal health behavior, living environment, dietary status, family history; To investigate the difference among the demographics, personal health behavior, living environment, dietary status, family history of among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease.; Diagnostic test: HLA typing; Using HLA typing from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease to investigate the difference among the genetic variant, gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences.; Diagnostic test: Full-length 16S Amplicon Sequencing; Using Full-length 16S Amplicon Sequencing from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease to investigate the difference among the genetic variant, gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences.; Diagnostic test: Epigenomic; Using Epigenomic from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease to investigate the difference among the genetic variant, gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences.; Diagnostic test: Metabolomics; Using Metabolomics from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease to investigate the difference among the genetic variant, gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences.; Diagnostic test: Environmental Toxic; Using Environmental Toxic from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease to investigate the difference among the genetic variant, gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences.; Diagnostic test: Medical Image; Using Medical Image from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease to investigate the difference among the genetic variant, gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences.
Health subjects; Health subjects were extracted from Taiwan Biobank.	Diagnostic test: Whole-genome genotyping; Using Whole-genome genotyping from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease.; Diagnostic test: Whole-genome sequencing; Using whole-genome sequencing from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease to investigate the difference among the genetic variant, gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences.; Diagnostic test: TCM pattern; We want to use TCM pattern to investigate the difference among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease.; Diagnostic test: DNA Exome sequencing; The DNA of dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease will take to do the DNA Exome sequencing.; Diagnostic test: Physical examination indicators, blood, urine and biochemical function test; To investigate the difference of Physical examination indicators, blood, urine and biochemical function test among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease.; Diagnostic test: Demographics, personal health behavior, living environment, dietary status, family history; To investigate the difference among the demographics, personal health behavior, living environment, dietary status, family history of among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease.; Diagnostic test: HLA typing; Using HLA typing from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease to investigate the difference among the genetic variant, gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences.; Diagnostic test: Full-length 16S Amplicon Sequencing; Using Full-length 16S Amplicon Sequencing from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease to investigate the difference among the genetic variant, gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences.; Diagnostic test: Epigenomic; Using Epigenomic from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease to investigate the difference among the genetic variant, gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences.; Diagnostic test: Metabolomics; Using Metabolomics from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease to investigate the difference among the genetic variant, gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences.; Diagnostic test: Environmental Toxic; Using Environmental Toxic from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease to investigate the difference among the genetic variant, gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences.; Diagnostic test: Medical Image; Using Medical Image from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease to investigate the difference among the genetic variant, gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences.
Sjögren's syndrome; Sjogren's syndrome patients were screened in the rheumatology outpatient departments and Center for Traditional Medicine at Taipei Veterans General Hospital, and were enrolled with the inclusion criteria: (1) aged between 20 and 75 years; (2) fulfilled the 2002 American-European Consensus Criteria for SS (AECG)	Diagnostic test: Whole-genome genotyping; Using Whole-genome genotyping from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease.; Diagnostic test: Whole-genome sequencing; Using whole-genome sequencing from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease to investigate the difference among the genetic variant, gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences.; Diagnostic test: TCM pattern; We want to use TCM pattern to investigate the difference among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease.; Diagnostic test: DNA Exome sequencing; The DNA of dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease will take to do the DNA Exome sequencing.; Diagnostic test: Physical examination indicators, blood, urine and biochemical function test; To investigate the difference of Physical examination indicators, blood, urine and biochemical function test among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease.; Diagnostic test: Demographics, personal health behavior, living environment, dietary status, family history; To investigate the difference among the demographics, personal health behavior, living environment, dietary status, family history of among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease.; Diagnostic test: HLA typing; Using HLA typing from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease to investigate the difference among the genetic variant, gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences.; Diagnostic test: Full-length 16S Amplicon Sequencing; Using Full-length 16S Amplicon Sequencing from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease to investigate the difference among the genetic variant, gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences.; Diagnostic test: Epigenomic; Using Epigenomic from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease to investigate the difference among the genetic variant, gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences.; Diagnostic test: Metabolomics; Using Metabolomics from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease to investigate the difference among the genetic variant, gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences.; Diagnostic test: Environmental Toxic; Using Environmental Toxic from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease to investigate the difference among the genetic variant, gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences.; Diagnostic test: Medical Image; Using Medical Image from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease to investigate the difference among the genetic variant, gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences.
other inflammation disease; Other inflammation disease were extracted from Taiwan Biobank.	Diagnostic test: Whole-genome genotyping; Using Whole-genome genotyping from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease.; Diagnostic test: Whole-genome sequencing; Using whole-genome sequencing from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease to investigate the difference among the genetic variant, gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences.; Diagnostic test: TCM pattern; We want to use TCM pattern to investigate the difference among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease.; Diagnostic test: DNA Exome sequencing; The DNA of dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease will take to do the DNA Exome sequencing.; Diagnostic test: Physical examination indicators, blood, urine and biochemical function test; To investigate the difference of Physical examination indicators, blood, urine and biochemical function test among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease.; Diagnostic test: Demographics, personal health behavior, living environment, dietary status, family history; To investigate the difference among the demographics, personal health behavior, living environment, dietary status, family history of among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease.; Diagnostic test: HLA typing; Using HLA typing from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease to investigate the difference among the genetic variant, gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences.; Diagnostic test: Full-length 16S Amplicon Sequencing; Using Full-length 16S Amplicon Sequencing from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease to investigate the difference among the genetic variant, gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences.; Diagnostic test: Epigenomic; Using Epigenomic from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease to investigate the difference among the genetic variant, gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences.; Diagnostic test: Metabolomics; Using Metabolomics from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease to investigate the difference among the genetic variant, gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences.; Diagnostic test: Environmental Toxic; Using Environmental Toxic from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease to investigate the difference among the genetic variant, gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences.; Diagnostic test: Medical Image; Using Medical Image from Taiwan Biobank among dry eye syndrome, healthy control, Sjögren's syndrome and other inflammation disease to investigate the difference among the genetic variant, gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Immunity-related gene expression	To evaluate the immunity-related gene expression for Dry eye syndrome, Sjögren's syndrome and healthy control. DNA exome combine the GATK (Genome Analysis Toolkit) is a tool for detecting the ratio of immunity-related gene expression.	Five year
TCM pattern	To evaluate the difference of TCM pattern between Dry eye syndrome, Sjögren's syndrome and healthy control. TCM pattern is a tool for detecting the constitution.	Five year

Collaborators and Investigators

• Sponsor: Taipei Veterans General Hospital, Taiwan
• Investigators: Principal Investigator: Ching-Mao Chang, M.D., Ph.D., Taipei Veterans General Hospital, Taiwan

Study record dates

Study Major Dates

• Study Start (Anticipated): October 1, 2022
• Primary Completion (Anticipated): December 1, 2022
• Study Completion (Anticipated): December 31, 2027

Study Registration Dates

• First Submitted: April 22, 2019
• First Submitted That Met QC Criteria: May 2, 2019
• First Posted (Actual): May 6, 2019

Study Record Updates

• Last Update Posted (Actual): August 11, 2022
• Last Update Submitted That Met QC Criteria: August 9, 2022
• Last Verified: August 1, 2022

More Information

Terms related to this study

• Keywords: Inflammation; Sjögren's syndrome; Dry eye syndrome; Xerophthalmia; Gene modulation; TCM pattern; Healthy control
• Additional Relevant MeSH Terms: Pathologic Processes; Immune System Diseases; Autoimmune Diseases; Eye Diseases; Disease; Joint Diseases; Musculoskeletal Diseases; Rheumatic Diseases; Connective Tissue Diseases; Arthritis; Stomatognathic Diseases; Mouth Diseases; Lacrimal Apparatus Diseases; Keratoconjunctivitis; Conjunctivitis; Conjunctival Diseases; Keratitis; Corneal Diseases; Arthritis, Rheumatoid; Xerostomia; Salivary Gland Diseases; Syndrome; Inflammation; Dry Eye Syndromes; Keratoconjunctivitis Sicca; Sjogren's Syndrome
• Other Study ID Numbers: 2018-04-009ACF

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No