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Linkage and association scan for tanning ability in an isolated Mongolian population

机译:关联和关联扫描在一个孤立的蒙古族人群中的晒黑能力

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Tanning ability is important, because it represents the ability of the skin to protect itself against ultraviolet (UV) radiation. Here, we sought to determine genetic regions associated with tanning ability. Skin pigmentation was measured at the outer forearm and buttock areas to represent facultative and constitutive skin color, respectively. In our study population consisting of iso-lated Mongolian subjects, with common histories of environ-mental UV exposure during their nomadic life, facultative skin color adjusted by constitutive skin color was used to indicate tanning ability. Through linkage analysis and family-based as-sociation tests of 345 Mongolian subjects, we identified 2 po-tential linkage regions regulating tanning ability on 5q35.3 and 12q13.2, having 6 and 7 significant single nucleotide poly-morphisms (SNPs), respectively. Those significant SNPs were located in or adjacent to potential candidate genes related to tanning ability: GRM6, ATF1, WNT1, and SILV/Pmel17.
机译:晒黑能力很重要,因为它代表皮肤保护自身免受紫外线(UV)辐射的能力。在这里,我们试图确定与鞣制能力相关的遗传区域。在前臂外侧和臀部区域测量皮肤色素沉着,分别代表兼性和本构性皮肤颜色。在我们的研究对象中,包括孤立的蒙古族受试者,在他们的游牧生活中都有共同的环境UV暴露史,通过本构性皮肤颜色调整的兼性皮肤颜色用于指示鞣制能力。通过对345名蒙古族受试者的连锁分析和基于家庭的关联测试,我们确定了2个潜在的连锁区域,分别调节5q35.3和12q13.2的鞣制能力,具有6个和7个重要的单核苷酸多态性(SNP),分别。这些重要的SNP位于与鞣制能力相关的潜在候选基因中或附近:GRM6,ATF1,WNT1和SILV / Pmel17。

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