Comparison of genome-wide variation between Malawians and African ancestry HapMap populations.
Comparison of genome-wide variation between Malawians and African ancestry HapMap populations.
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DOI：
10.1038/jhg.2010.41
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发表时间：
2010-06
影响因子：
3.5
通讯作者：
中科院分区：
文献类型：
--
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了解人群之间的遗传变异很重要，因为它影响人类基因组范围分析方法的可移植性。我们比较了马拉维人和其他非洲和非非洲单体型图人群之间的遗传变异和亚结构。测量了受试者基因组中 617,715 个单核苷酸多态性 (SNP) 的等位基因频率和相邻连锁不平衡 (LD)。马拉维人群的等位基因频率 (N = 226) 与非洲血统 HapMap 人群 (AFA, N = 376) 的等位基因频率高度相关，即尼日利亚伊巴丹的约鲁巴人 (Spearman’s r2 = 0.97)、肯尼亚韦布耶的卢希亚人 (r2 = 0.97)、美国西南部的非裔美国人 (r2 = 0.94) 和马赛人肯尼亚基尼亚瓦 (r2 = 0.91)。马拉维人和其他血统人群之间的相关性要低得多 (r2 < 0.52)。马拉维人和 HapMap 人群之间的 LD 相关性在非洲血统人群中最强（AFA r2 > 0.82，其他血统 r2 < 0.57）。主成分分析显示，我们的马拉维样本中几乎没有人口亚结构，但提供了马拉维人、AFA 人口和两个欧洲人口之间的明显区别。乳糖酶基因 (LCT) 内的 5 个 SNP 在马拉维人群和肯尼亚肯尼亚瓦的马赛人群之间具有显着不同的等位基因频率 (rs3769013、rs730005、rs3769012、rs2304370；p 值 < 1×10−33)。
Understanding genetic variation between populations is important because it affects the portability of human genome wide analytical methods. We compared genetic variation and substructure between Malawians and other African and non-African HapMap populations. Allele frequencies and adjacent linkage disequilibrium (LD) were measured for 617,715 single nucleotide polymorphisms (SNPs) across subject genomes. Allele frequencies in the Malawian population (N = 226) were highly correlated with allele frequencies in HapMap populations of African Ancestry (AFA, N = 376), namely Yoruban in Ibadan, Nigeria (Spearman’s r2 = 0.97), Luhya in Webuye, Kenya (r2 = 0.97), African Americans in the southwest United States (r2 = 0.94), and Maasai in Kinyawa, Kenya (r2 = 0.91). This correlation was much lower between Malawians and other ancestry populations (r2 < 0.52). LD correlations between Malawians and HapMap populations were strongest for the populations of African ancestry (AFA r2 > 0.82, other ancestries r2 < 0.57). Principal components analyses revealed little population substructure within our Malawi sample but provided clear distinction between Malawians, AFA populations, and two European populations. Five SNPs within the lactase gene (LCT) had substantially different allele frequencies between the Malawi population and Maasai in Kenyawa, Kenya (rs3769013, rs730005, rs3769012, rs2304370; p values < 1×10−33).
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DOI：
10.1126/science.1172257
发表时间：
2009-05-22
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Tishkoff SA;Reed FA;Friedlaender FR;Ehret C;Ranciaro A;Froment A;Hirbo JB;Awomoyi AA;Bodo JM;Doumbo O;Ibrahim M;Juma AT;Kotze MJ;Lema G;Moore JH;Mortensen H;Nyambo TB;Omar SA;Powell K;Pretorius GS;Smith MW;Thera MA;Wambebe C;Weber JL;Williams SM
通讯作者：
Williams SM
影响因子：
8
作者：
Arnold, John C.;Singh, Kumud K.;Sawyer, Mark H.
通讯作者：
Sawyer, Mark H.
影响因子：
3.8
作者：
Mwapasa, Victor;Rogerson, Stephen J.;Meshnick, Steven R.
通讯作者：
Meshnick, Steven R.
影响因子：
2.9
作者：
Hu, Cheng;Jia, Weiping;Xiang, Kunsan
通讯作者：
Xiang, Kunsan
影响因子：
64.8
作者：
Gibbs, RA;Belmont, JW;Tanaka, T
通讯作者：
Tanaka, T