Epigenetic Regulation of Osteogenesis Imperfecta Severity : miROI Study

Epigenetic Regulation of Osteogenesis Imperfecta Severity : miROI Study

Osteogenesis Imperfecta (OI) is a heterogeneous group of rare connective tissue hereditary diseases responsible for fragility and bone deformity. OI is caused by an autosomal dominant mutation of COL1A1 or COL1A2, encoding α1 and α2 of the collagen, regardless of their phenotypic severity (1 to 5 OI type).

This observation suggests the existence of a undetermined mechanism that may be found in epigenetic regulation, including particularly micro Ribonucleic Acids (miRs).

Indeed, these small non-coding miRs are involved in the regulation of major steps of cellular processes in different pathologies, especially in bone disease.

Currently, no study can provide a satisfactory answer.

This is an etiologic study to reveal the correlation between micro-RNAs (miR) expression and the type I or III of the Osteogenesis Imperfecta (OI).

The aim of this study is therefore to identify miRs significantly associated with the severity of OI.

Inclusion Criteria:

Control population:

• Male or female
• 18 years old and over
• Be part of cohorts STRAMBO, OFELY or MODAM

Patients with OI:

• Male or female ≥18 years old
• Have COL1A1 or COL1A2 mutation
• Have a diagnosis of type 1 or 3 from Silence classification made by a rheumatologist expert in bone pathologies

Exclusion Criteria:

• Refusal to participate in the study
• Have received glucocorticoid treatment for more than 3 months
• Have received anti-osteoporotic treatment for less than 1 year ago
• Have Chronic inflammatory rheumatism
• Have an uncontrolled hypo/hyper thyroidism ou hypo/hyper parathyroidism
• Have cancer or bone metastases (current or in the past two years)
• Have benign bone tumors or Paget's disease
• Have malabsorptive disease (Celiac disease, Whipple's disease, intestinal bypass, short bowel syndrome) and inflammatory bowel disease
• Pregnant or lactating women
• Have psychiatric disorders seriously hindering understanding
• Have difficulties in oral understanding of French language
• Not a beneficiary of french social security
• Patients protected by law