ヒスパニック系/ラテン系住民のデータを調査し、健康と成長に関連するゲノムの42の領域を特定しました。 Researchers identified 42 regions of the genome related to health and growth by examining data from Hispanic/Latino individuals.
2022-04-11 ペンシルベニア州立大学(PennState)
・ゲノム研究の目的の一つは、その人が必要とする治療や薬を、必要なときに正確に提供する「精密医療」を実現することです。
・「精密医療は素晴らしいアイデアですが、関連するデータがなければ、精度の高い治療を行うことはできません。これまでの大規模なゲノム研究では、ヒスパニック系/ラテン系の人々のことはほとんど見落とされてきました」。フェルナンデス=ローデス氏は説明する。
・フェルナンデス・ローズとグラフは、世界中の100人以上の研究者とともに、ヒスパニック/ラテンアメリカ人体格測定コンソーシアムを結成しました。このコンソーシアムでは、ゲノム研究の多様性を高めるために、ヒスパニック/ラテンアメリカ系住民に関する研究の専門知識と遺伝データを蓄積しています。
<関連情報>
- https://www.psu.edu/news/health-and-human-development/story/greater-diversity-genetic-studies-helps-researchers-uncover-new/
- https://doi.org/10.1016/j.xhgg.2022.100099
祖先の多様性により、身体測定形質の遺伝子座の発見とファインマッピングが可能に-ヒスパニック/ラテンアメリカ身体測定コンソーシアム Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits—The Hispanic/Latino Anthropometry Consortium
LindsayFernández-Rhodes,MariaelisaGraff,Victoria L.Buchanan,Anne E.Justice,Heather M.Highland,XiuqingGuo,WanyingZhu,Hung-HsinChen,Kristin L.Young,KaustubhAdhikari,Nicholette D.Palmer,Jennifer E.Below,JonathanBradfield,Alexandre C.Pereira,LáShauntáGlover,DaeeunKim,Adam G.Lilly,PoojanShrestha…Kari E.North
new article in Human Genetics and Genomics Advances 14 April 2022
doi.org/10.1016/j.xhgg.2022.100099
図1. HISLAメタ解析およびHISLAと他家系のコンソーシアムによるtrans-ancestralメタ解析における6座位と既知座位における36シグナルの設計と発見のフローチャート
Abstract
Hispanic/Latinos have been underrepresented in genome-wide association studies (GWAS) for anthropometric traits despite their notable anthropometric variability, ancestry proportions, and high burden of growth stunting and overweight/obesity. To address this knowledge gap, we analyzed densely imputed genetic data in a sample of Hispanic/Latino adults to identify and fine-map genetic variants associated with body mass index (BMI), height, and BMI-adjusted waist-to-hip ratio (WHRadjBMI). We conducted a GWAS of 18 studies/consortia as part of the Hispanic/Latino Anthropometry (HISLA) Consortium (stage 1, n = 59,771) and generalized our findings in 9 additional studies (stage 2, n = 10,538). We conducted a trans-ancestral GWAS with summary statistics from HISLA stage 1 and existing consortia of European and African ancestries. In our HISLA stage 1 + 2 analyses, we discovered one BMI locus, as well as two BMI signals and another height signal each within established anthropometric loci. In our trans-ancestral meta-analysis, we discovered three BMI loci, one height locus, and one WHRadjBMI locus. We also identified 3 secondary signals for BMI, 28 for height, and 2 for WHRadjBMI in established loci. We show that 336 known BMI, 1,177 known height, and 143 known WHRadjBMI (combined) SNPs demonstrated suggestive transferability (nominal significance and effect estimate directional consistency) in Hispanic/Latino adults. Of these, 36 BMI, 124 height, and 11 WHRadjBMI SNPs were significant after trait-specific Bonferroni correction. Trans-ancestral meta-analysis of the three ancestries showed a small-to-moderate impact of uncorrected population stratification on the resulting effect size estimates. Our findings demonstrate that future studies may also benefit from leveraging diverse ancestries and differences in linkage disequilibrium patterns to discover novel loci and additional signals with less residual population stratification.
