ALDH2 variance in disease and populations

CH Chen, BR Kraemer… - Disease Models & …, 2022 - journals.biologists.com
The ALDH2* 2 missense variant that commonly causes alcohol flushing reactions is the
single genetic polymorphism associated with the largest number of traits in humans. The …

DOCK2 is involved in the host genetics and biology of severe COVID-19

H Namkoong, R Edahiro, T Takano, H Nishihara… - Nature, 2022 - nature.com
Identifying the host genetic factors underlying severe COVID-19 is an emerging challenge,,,–
. Here we conducted a genome-wide association study (GWAS) involving 2,393 cases of …

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project

PK Cong, WY Bai, JC Li, MY Yang… - Nature …, 2022 - nature.com
Abstract We initiate the Westlake BioBank for Chinese (WBBC) pilot project with 4,535 whole-
genome sequencing (WGS) individuals and 5,841 high-density genotyping individuals, and …

A database of 5305 healthy Korean individuals reveals genetic and clinical implications for an East Asian population

J Lee, J Lee, S Jeon, J Lee, I Jang, JO Yang… - … & Molecular Medicine, 2022 - nature.com
Despite substantial advances in disease genetics, studies to date have largely focused on
individuals of European descent. This limits further discoveries of novel functional genetic …

Qatar genome: Insights on genomics from the Middle East

H Mbarek, G Devadoss Gandhi, S Selvaraj… - Human …, 2022 - Wiley Online Library
Despite recent biomedical breakthroughs and large genomic studies growing momentum,
the Middle Eastern population, home to over 400 million people, is underrepresented in the …

Multi-trait and cross-population genome-wide association studies across autoimmune and allergic diseases identify shared and distinct genetic component

Y Shirai, Y Nakanishi, A Suzuki, H Konaka… - Annals of the …, 2022 - ard.bmj.com
Objectives Autoimmune and allergic diseases are outcomes of the dysregulation of the
immune system. Our study aimed to elucidate differences or shared components in genetic …

[PDF][PDF] Prokaryotic and viral genomes recovered from 787 Japanese gut metagenomes revealed microbial features linked to diets, populations, and diseases

Y Tomofuji, T Kishikawa, Y Maeda, K Ogawa… - Cell Genomics, 2022 - cell.com
Summary We reconstructed 19,084 prokaryotic and 31,395 viral genomes from 787
Japanese gut metagenomes as Japanese metagenome-assembled genomes (JMAG) and …

A common deletion at BAK1 reduces enhancer activity and confers risk of intracranial germ cell tumors

K Sonehara, Y Kimura, Y Nakano, T Ozawa… - Nature …, 2022 - nature.com
Intracranial germ cell tumors (IGCTs) are rare brain neoplasms that mainly occur in children
and adolescents with a particularly high incidence in East Asian populations. Here, we …

Genetic background of mesalamine-induced fever and diarrhea in Japanese patients with inflammatory bowel disease

K Suzuki, Y Kakuta, T Naito, T Takagawa… - Inflammatory bowel …, 2022 - academic.oup.com
Background Some patients with inflammatory bowel disease (IBD) who were under
mesalamine treatment develop adverse reactions called “mesalamine allergy,” which …

[PDF][PDF] Decoding the diversity of killer immunoglobulin-like receptors by deep sequencing and a high-resolution imputation method

S Sakaue, K Hosomichi, J Hirata, H Nakaoka… - Cell Genomics, 2022 - cell.com
The killer cell immunoglobulin-like receptor (KIR) recognizes human leukocyte antigen
(HLA) class I molecules and modulates the function of natural killer cells. Despite its role in …