rs12452554 - UNC45B

Magnitude 4.5 · 1 study on file

Reported associations

• Analysis of the genetic component of systemic sclerosis in Iranian and Turkish populations through a genome-wide association study. - Rheumatology (Oxford, England) (2019) · González-Serna D, López-Isac E, Yilmaz N, Gharibdoost F, Jamshidi A, Kavosi H, Poursani S, Farsad F, Direskeneli H, Saruhan-Direskeneli G, Vargas S, Sawalha AH, Brown MA, Yavuz S, Mahmoudi M, Martin J · PubMed 30247649

  SSc is an autoimmune disease characterized by alteration of the immune response, vasculopathy and fibrosis. Most genetic studies on SSc have been performed in European-ancestry populations. The aim of this study was to analyse the genetic component of SSc in Middle Eastern patients from Iran and Turkey through a genome-wide association study. This study analysed data from a total of 834 patients diagnosed with SSc and 1455 healthy controls from Iran and Turkey. DNA was genotyped using high-throughput genotyping platforms. The data generated were imputed using the Michigan Imputation Server, and the Haplotype Reference Consortium as a reference panel. A meta-analysis combining both case-control sets was conducted by the inverse variance method. The highest peak of association belonged to th

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