rs12089229 - LINC02814

Magnitude 4.5 · 1 study on file

Reported associations

• Genome-wide association study identifies CDH13 as a susceptibility gene for rhododendrol-induced leukoderma. - Pigment cell & melanoma research (2021) · Okamura K, Abe Y, Naka I, Ohashi J, Yagami A, Matsunaga K, Kobayashi Y, Fukai K, Tanemura A, Katayama I, Masui Y, Ito A, Yamashita T, Nagai H, Nishigori C, Oiso N, Aoyama Y, Araki Y, Saito T, Hayashi M, Hozumi Y, Suzuki T · PubMed 32558222

  Racemic RS-4-(4-hydroxyphenyl)-2-butanol (rhododendrol; trade name: Rhododenol [RD]), which is used in topical skin-lightening cosmetics, was unexpectedly reported in Japan to induce leukoderma or vitiligo called RD-induced leukoderma (RIL) after repeated application. To our knowledge, no studies have investigated chemical-induced vitiligo pathogenesis on a genome-wide scale. Here, we conducted a genome-wide association study (GWAS) for 147 cases and 112 controls. CDH13, encoding a glycosylphosphatidylinositol-anchored protein called T-cadherin (T-cad), was identified as the strongest RIL susceptibility gene. RD sensitivity was remarkably increased by T-cad knockdown in cultured normal human melanocytes. Furthermore, we confirmed tyrosinase upregulation and downregulation of the anti-apopt

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