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Rare Variation and Remote Gene Regulation of Osteoporosis Related Phenotypes in Han Chinesse

Rare Variation and Remote Gene Regulation of Osteoporosis Related Phenotypes in Han Chinesse

Status
UNKNOWN
Phases
Unknown
Study type
Observational
Source
ClinicalTrials.gov
Registry ID
NCT04129671
Enrollment
3000
Registered
2019-10-17
Start date
2019-04-29
Completion date
2021-12-31
Last updated
2019-10-17

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Senile Osteoporosis With Current Pathological Fracture Lower Leg (Diagnosis)

Brief summary

Bone density is recognized as the most important factor to measure osteoporosis, and the prevalence of osteoporosis increases with age. Risk factors for osteoporosis include age, weight, exercise, diet, smoking and alcohol consumption. What's more, osteoporosis has a strong familial aggregation, and the genetic value of bone density is between 0.6 and 0.85. Therefore, it is necessary to conduct large-scale collection of population samples of osteoporosis fractures and relevant genetic studies.

Detailed description

From past linkage analysis and candidate gene association studies to genome-wide association studies and second-generation sequencing technologies, researchers have found hundreds of genes and SNPs associated with bone mineral density and osteoporosis fractures. However, current studies on osteoporosis and related phenotypes are mainly concentrated in the European and American populations, rare in Asia and other regions, and even less in the Chinese han population. It is one of the problems to be solved in this project whether the genes and SNP loci associated with these strengths can also be applied to han Chinese population due to the existence of racial differences. This project aims to collect the patients with primary osteoporosis and osteoporosis fracture in the Chinese han population through the orthopaedics department, and verify the identified osteoporosis susceptibility genes in the Chinese han population.

Interventions

No intervention was administered

Sponsors

Westlake University
CollaboratorOTHER
Second Affiliated Hospital, School of Medicine, Zhejiang University
Lead SponsorOTHER

Study design

Observational model
ECOLOGIC_OR_COMMUNITY
Time perspective
PROSPECTIVE

Eligibility

Sex/Gender
ALL
Age
50 Years to 100 Years

Inclusion criteria

1. From July 2018 to July 2021, patients admitted to the outpatient or inpatient clinic were diagnosed as primary osteoporosis fracture; 2. Aged between 50 and 100; 3. This fracture was not treated with any anti-osteoporosis drugs before 4. Subjects will participate in the study voluntarily and have signed the informed consent 5. Patients with clear mind and independent behavioral ability

Exclusion criteria

1. Patients with malignant tumors are associated with bone metastases, such as lung cancer, prostate cancer, thyroid cancer, etc 2. Hyperparathyroidism, Cushing syndrome, hypogonadism, hyperthyroidism, pituitary prolactinoma, diabetes 3. Systemic lupus erythematosus, rheumatoid arthritis, sjogren's syndrome, dermatomyositis, mixed connective tissue disease, etc.; 4. Renal osteodystrophy caused by various chronic kidney diseases; 5. Gastrointestinal diseases and nutritional diseases: malabsorption syndrome, subtotal gastrectomy, chronic pancreatic diseases, chronic liver diseases, protein-calorie malnutrition, long-term intravenous nutrition support treatment, etc.; 6. Leukemia, lymphoma, multiple myeloma, hyperthermia and myelodysplastic syndrome; 7. Hemiplegia, paraplegia, motor dysfunction, muscular dystrophy, catalepsy and myotonic syndrome caused by various reasons; 8. Glucocorticoids, immunosuppressants, heparin, anticonvulsants, anticancer drugs, aluminum-containing antacids, thyroid hormones, gnrh-a or dialysate, etc. 9. Unwilling to accept dietary management or unable to sign the informed consent

Design outcomes

Primary

MeasureTime frameDescription
Exon sequencing results from the target regionJune 2018-December 2021Exon sequencing

Countries

China

Contacts

Primary ContactShigui Yan, Doctore
Olivery@zju.edu.cn057187783530
Backup ContactZhimin Ying, Doctore
11018061@zju.edu.cn057187783533

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026