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

NCT ID: NCT04129671

Last Updated: 2019-10-17

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

3000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-04-29

Study Completion Date

2021-12-31

Brief Summary

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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

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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.

Conditions

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Senile Osteoporosis With Current Pathological Fracture Lower Leg (Diagnosis)

Study Design

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Observational Model Type

ECOLOGIC_OR_COMMUNITY

Study Time Perspective

PROSPECTIVE

Interventions

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No intervention was applied

No intervention was administered

Intervention Type GENETIC

Eligibility Criteria

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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
Minimum Eligible Age

50 Years

Maximum Eligible Age

100 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Westlake University

OTHER

Sponsor Role collaborator

Second Affiliated Hospital, School of Medicine, Zhejiang University

OTHER

Sponsor Role lead

Responsible Party

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Shigui Yan

Honorary director of the department of orthopaedics surgery

Responsibility Role PRINCIPAL_INVESTIGATOR

Locations

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2nd Affiliated Hospital, School of Medicine, Zhejiang University, China

Hangzhou, Zhejing Province, China

Site Status RECRUITING

Countries

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China

Central Contacts

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Shigui Yan, Doctore

Role: CONTACT

057187783530

Zhimin Ying, Doctore

Role: CONTACT

057187783533

Facility Contacts

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Zhimin Ying, Doctore

Role: primary

+86 0571 87783759

References

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He W, Liu M, Huang X, Qing Z, Gao W. The influence of vitamin D receptor genetic variants on bone mineral density and osteoporosis in Chinese postmenopausal women. Dis Markers. 2015;2015:760313. doi: 10.1155/2015/760313. Epub 2015 Feb 17.

Reference Type BACKGROUND
PMID: 25784778 (View on PubMed)

Mendoza N, Quereda F, Presa J, Salamanca A, Sanchez-Borrego R, Vazquez F, Martinez Astorquiza T. Estrogen-related genes and postmenopausal osteoporosis risk. Climacteric. 2012 Dec;15(6):587-93. doi: 10.3109/13697137.2012.656160. Epub 2012 Feb 15.

Reference Type RESULT
PMID: 22335445 (View on PubMed)

Other Identifiers

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2018-090

Identifier Type: -

Identifier Source: org_study_id

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