Yuzhong Zheng1, Junli Wang2, Xueyan Liang3,4, Huiying Huang3,4, Yanbo Ma5, Liyun Lin1, Chunfang Wang2, Xiaofen Zhan6, Liye Yang6, Guangcai Zha1, Peikui Yang1, Xianghui Zou1, Zikai Chen1, Xinyao Chen4, Weizhong Chen4, Xiangzhi Liu4, Min Lin1,4. 1. School of Food Engineering and Biotechnology, Hanshan Normal University, Chaozhou, Guangdong Province, China. 2. Reproductive Medicine Center, The Affiliated Hospital of Youjiang Medical University for Nationalities, Baise, China. 3. Department of Medical Genetics, Shantou University Medical College, Shantou, Guangdong, China. 4. Department of Medical Laboratory, Chaozhou People's Hospital Affiliated to Shantou University Medical College, Chaozhou, Guangdong, China. 5. School of Mathematics and Statistics, Hanshan Normal University, Chaozhou, Guangdong, China. 6. Department of Medical Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, Guangdong, China.
Abstract
BACKGROUND: Although glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common inherited disorder in the Chinese population, there is scarce evidence regarding the epidemiology, evolutionary origin, and malaria-induced positive selection effects of G6PD-deficient alleles in various Chinese ethnic populations. METHODS: We performed a large population-based screening (n = 15,690) to examine the impact of selection on human nucleotide diversity and to infer the evolutionary history of the most common deficiency alleles in Chinese populations. RESULTS: The frequencies of G6PD deficiency ranged from 0% to 11.6% in 12 Chinese ethnic populations. A frequency map based on geographic information showed that G6PD deficiency was highly correlated with historical malaria prevalence in China and was affected by altitude and latitude. The five most frequently occurring G6PD gene variants were NM_001042351.3:c.1376G>T, NM_001042351.3:c.1388G>A, NM_001042351.3:c.95A>G, NM_001042351.3:c.1311T>C, and NM_001042351.3:c.1024C>T, which were distributed with ethnic features. A pathogenic but rarely reported variant site (NM_001042351.3:c.448G>A) was identified in this study. Bioinformatic analysis revealed a strong and recent positive selection targeting the NM_001042351.3:c.1376G>T allele that originated in the past 3125 to 3750 years and another selection targeting the NM_001042351.3:c.1388G>A allele that originated in the past 5000 to 6000 years. Additionally, both alleles originated from a single ancestor. CONCLUSION: These results indicate that malaria has had a major impact on the Chinese genome since the introduction of rice agriculture.
BACKGROUND: Although glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common inherited disorder in the Chinese population, there is scarce evidence regarding the epidemiology, evolutionary origin, and malaria-induced positive selection effects of G6PD-deficient alleles in various Chinese ethnic populations. METHODS: We performed a large population-based screening (n = 15,690) to examine the impact of selection on human nucleotide diversity and to infer the evolutionary history of the most common deficiency alleles in Chinese populations. RESULTS: The frequencies of G6PD deficiency ranged from 0% to 11.6% in 12 Chinese ethnic populations. A frequency map based on geographic information showed that G6PD deficiency was highly correlated with historical malaria prevalence in China and was affected by altitude and latitude. The five most frequently occurring G6PD gene variants were NM_001042351.3:c.1376G>T, NM_001042351.3:c.1388G>A, NM_001042351.3:c.95A>G, NM_001042351.3:c.1311T>C, and NM_001042351.3:c.1024C>T, which were distributed with ethnic features. A pathogenic but rarely reported variant site (NM_001042351.3:c.448G>A) was identified in this study. Bioinformatic analysis revealed a strong and recent positive selection targeting the NM_001042351.3:c.1376G>T allele that originated in the past 3125 to 3750 years and another selection targeting the NM_001042351.3:c.1388G>A allele that originated in the past 5000 to 6000 years. Additionally, both alleles originated from a single ancestor. CONCLUSION: These results indicate that malaria has had a major impact on the Chinese genome since the introduction of rice agriculture.
Authors: Joost W H Schymkowitz; Frederic Rousseau; Ivo C Martins; Jesper Ferkinghoff-Borg; Francois Stricher; Luis Serrano Journal: Proc Natl Acad Sci U S A Date: 2005-07-08 Impact factor: 11.205
Authors: S A Tishkoff; R Varkonyi; N Cahinhinan; S Abbes; G Argyropoulos; G Destro-Bisol; A Drousiotou; B Dangerfield; G Lefranc; J Loiselet; A Piro; M Stoneking; A Tagarelli; G Tagarelli; E H Touma; S M Williams; A G Clark Journal: Science Date: 2001-06-21 Impact factor: 47.728
Authors: Min Lin; Li Ye Yang; Dong De Xie; Jiang Tao Chen; Santiago-m Monte Nguba; Carlos Sala Ehapo; Xiao Fen Zhan; Juan Urbano Monsuy Eyi; Rocio Apicante Matesa; Maximo Miko Ondo Obono; Hui Yang; Hui Tian Yang; Ji Dong Cheng Journal: PLoS One Date: 2015-04-27 Impact factor: 3.240