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Keloids have a strong genetic component. The goal of this study is to identify genes and regulatory elements on chromosomes that are the cause for keloids or contribute to keloid scarring.
Keloids are scars that keep growing beyond the border of the original wound. They typically persist for several years, expand for an extensive period of time and are sometimes called benign tumors. Keloids often have a lumpy surface and are often tender, itchy or inflamed around the growing border.
Keloids in most keloid patients do not run in the family. In the inheritable form of keloids it is possible that there is one major gene mutation that puts family members at risk for developing keloids. There may be other variations in the DNA (DNA makes up the chromosomes) that determine whether keloids become large and aggressive or stay small and without many symptoms.
For this study we will:
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| affected | individuals with keloids | ||
| unaffected | unrelated unaffected controls or unaffected family members |
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| Measure | Description | Time Frame |
|---|---|---|
| Identification of genetic elements | The goal is to identify relevant genes or genetic elements that cause the disease or contribute to the disease progression and severity. | at time of identification |
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Inclusion Criteria:
Exclusion Criteria:
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Individuals with diagnosed keloids.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Ernst Reichenberger, PhD | Contact | 866-512-9897 | reichenberger@uchc.edu |
| Name | Affiliation | Role |
|---|---|---|
| Ernst Reichenberger, PhD | UConn Health | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Connecticut Health Center (UCHC) | Recruiting | Farmington | Connecticut | 06030-3705 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 15140214 | Background | Marneros AG, Norris JE, Watanabe S, Reichenberger E, Olsen BR. Genome scans provide evidence for keloid susceptibility loci on chromosomes 2q23 and 7p11. J Invest Dermatol. 2004 May;122(5):1126-32. doi: 10.1111/j.0022-202X.2004.22327.x. | |
| 11708945 | Background | Marneros AG, Norris JE, Olsen BR, Reichenberger E. Clinical genetics of familial keloids. Arch Dermatol. 2001 Nov;137(11):1429-34. doi: 10.1001/archderm.137.11.1429. |
| Label | URL |
|---|---|
| Reichenberger lab research information | View source |
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| ID | Term |
|---|---|
| D007627 | Keloid |
| D005355 | Fibrosis |
| D002921 | Cicatrix |
| ID | Term |
|---|---|
| D003095 | Collagen Diseases |
| D003240 | Connective Tissue Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D010335 | Pathologic Processes |
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Saliva, blood, scar tissue
| 28905881 | Background | Santos-Cortez RLP, Hu Y, Sun F, Benahmed-Miniuk F, Tao J, Kanaujiya JK, Ademola S, Fadiora S, Odesina V, Nickerson DA, Bamshad MJ, Olaitan PB, Oluwatosin OM, Leal SM, Reichenberger EJ. Identification of ASAH1 as a susceptibility gene for familial keloids. Eur J Hum Genet. 2017 Oct;25(10):1155-1161. doi: 10.1038/ejhg.2017.121. Epub 2017 Jul 26. |
| D013568 | Pathological Conditions, Signs and Symptoms |