Genome-wide scans reveal variants at EDAR predominantly affecting hair straightness in Han Chinese and Uyghur populations
详细信息 查看全文
- 作者：Sijie Wu ; Jingze Tan ; Yajun Yang ; Qianqian Peng ; Manfei Zhang ; Jinxi Li…
- 刊名：Human Genetics
- 出版年：2016
- 出版时间：November 2016
- 年：2016
- 卷：135
- 期：11
- 页码：1279-1286
- 全文大小：1,242 KB
- 刊物类别：Biomedical and Life Sciences
- 刊物主题：Biomedicine
Human Genetics
Molecular Medicine
Internal Medicine
Metabolic Diseases - 出版者：Springer Berlin / Heidelberg
- ISSN：1432-1203
- 卷排序：135
文摘
Hair straightness/curliness is one of the most conspicuous features of human variation and is particularly diverse among populations. A recent genome-wide scan found common variants in the Trichohyalin (TCHH) gene that are associated with hair straightness in Europeans, but different genes might affect this phenotype in other populations. By sampling 2899 Han Chinese, we performed the first genome-wide scan of hair straightness in East Asians, and found EDAR (rs3827760) as the predominant gene (P = 4.67 × 10−16), accounting for 3.66 % of the total variance. The candidate gene approach did not find further significant associations, suggesting that hair straightness may be affected by a large number of genes with subtle effects. Notably, genetic variants associated with hair straightness in Europeans are generally low in frequency in Han Chinese, and vice versa. To evaluate the relative contribution of these variants, we performed a second genome-wide scan in 709 samples from the Uyghur, an admixed population with both eastern and western Eurasian ancestries. In Uyghurs, both EDAR (rs3827760: P = 1.92 × 10−12) and TCHH (rs11803731: P = 1.46 × 10−3) are associated with hair straightness, but EDAR (OR 0.415) has a greater effect than TCHH (OR 0.575). We found no significant interaction between EDAR and TCHH (P = 0.645), suggesting that these two genes affect hair straightness through different mechanisms. Furthermore, haplotype analysis indicates that TCHH is not subject to selection. While EDAR is under strong selection in East Asia, it does not appear to be subject to selection after the admixture in Uyghurs. These suggest that hair straightness is unlikely a trait under selection.