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

• Conditions: Senile Osteoporosis With Current Pathological Fracture Lower Leg (Diagnosis)

• Registration Number: NCT04129671
• Lead Sponsor: Second Affiliated Hospital, School of Medicine, Zhejiang University

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.

Study Timeline

• Study Start: 2019-04-29
• Status Verified: 2019-10
• Study First Submitted: 2019-10-15
• Study First Submitted QC: 2019-10-15
• Last Update Submitted: 2019-10-15
• Study First Posted: 2019-10-17
• Last Update Posted: 2019-10-17
• Primary Completion: 2021-12-01
• Study Completion: 2021-12-31

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 3000

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Exon sequencing results from the target region	June 2018-December 2021	Exon sequencing

Trial Locations

Locations (1)

2nd Affiliated Hospital, School of Medicine, Zhejiang University, China; 🇨🇳 Hangzhou, Zhejing Province, China