A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration

作者：de Vries Paul S; Chasman Daniel I; Sabater Lleal Maria; Chen Ming Huei; Huffman Jennifer E; Steri Maristella; Tang Weihong; Teumer Alexander; Marioni Riccardo E; Grossmann Vera; Hottenga Jouke J; Trompet Stella; Mueller Nurasyid Martina; Zhao Jing Hua; Brody Jennifer A; Kleber Marcus E; Guo Xiuqing; Wang Jie Jin; Auer Paul L; Attia John R; Yanek Lisa R; Ahluwalia Tarunveer S; Lahti Jari; Venturini Cristina; Tanaka Toshiko; Bielak Lawrence F; Joshi Peter K

来源：Human Molecular Genetics, 2016, 25(2): 358-370.

DOI：10.1093/hmg/ddv454

Genome-wide association studies have previously identified 23 genetic loci associated with circulating fibrinogen concentration. These studies used HapMap imputation and did not examine the X-chromosome. 1000 Genomes imputation provides better coverage of uncommon variants, and includes indels. We conducted a genome-wide association analysis of 34 studies imputed to the 1000 Genomes Project reference panel and including similar to 120 000 participants of European ancestry (95 806 participants with data on the X-chromosome). Approximately 10.7 million single-nucleotide polymorphisms and 1.2 million indels were examined. We identified 41 genome-wide significant fibrinogen loci; of which, 18 were newly identified. There were no genome-wide significant signals on the X-chromosome. The lead variants of five significant loci were indels. We further identified six additional independent signals, including three rare variants, at two previously characterized loci: FGB and IRF1. Together the 41 loci explain 3% of the variance in plasma fibrinogen concentration.

• 出版日期2016-1-15
• 单位河北医科大学