Expressive

rs11066001 - BRAP

Magnitude 4.5 · 8 studies on file

Reported associations

  • Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures. - Nature communications (2025) · Jee YH, Wang Y, Jung KJ, Lee JY, Kimm H, Duan R, Price AL, Martin AR, Kraft P · PubMed 40436827

    Genome-wide association studies (GWAS) have predominantly focused on European ancestry populations, limiting biological discoveries across diverse populations. Here we report GWAS findings from 153,950 individuals across 36 quantitative traits in the Korean Cancer Prevention Study-II (KCPS2) Biobank. We discovered 301 previously unreported genetic loci in KCPS2, including an association between thyroid-stimulating hormone and CD36. Meta-analysis with the Korean Genome and Epidemiology Study, Biobank Japan, Taiwan Biobank, and UK Biobank identified 4588 loci that were not significant in any contributing GWAS. We describe differences in genetic architectures across these East Asian and European samples. We also highlight East Asian specific associations, including a known pleiotropic missens

  • Genome-wide analysis of heart failure yields insights into disease heterogeneity and enables prognostic prediction in the Japanese population. - Nature communications (2025) · Enzan N, Miyazawa K, Koyama S, Kurosawa R, Ieki H, Yoshida H, Takechi F, Fukuyama M, Osako R, Tomizuka K, Liu X, Ozaki K, Onouchi Y, Matsuda K, Momozawa Y, Aburatani H, Kamatani Y, Yamaguchi T, Akazawa H, Node K, Ellinor PT, Levin MG, Damrauer SM, Voight BF, Joseph J, Sun YV, Terao C, Ninomiya T, Komuro I, Ito K · PubMed 41184235

    To understand the genetic basis of heart failure (HF) in the Japanese population, we performed genome-wide association studies (GWASs) comprising 16,251 all-cause HF cases, 4254 HF with reduced ejection fraction (HFrEF) cases, 7154 HF with preserved ejection fraction cases, and 11,122 non-ischemic HF cases among 213,828 individuals and identified five novel loci. A subsequent cross-ancestry meta-analysis and multi-trait analysis of the GWAS data identified 19 novel loci in total, with 31 out of the 76 genome-wide significant loci associated with HFrEF despite its smaller sample size. Among these susceptibility loci, a common non-coding variant in TTN (rs1484116) was associated with reduced cardiac function and worse long-term mortality. We leveraged the HF meta-GWASs along with cardiac fun

  • Analysis across Taiwan Biobank, Biobank Japan, and UK Biobank identifies hundreds of novel loci for 36 quantitative traits. - Cell genomics (2023) · Chen CY, Chen TT, Feng YA, Yu M, Lin SC, Longchamps RJ, Wang SH, Hsu YH, Yang HI, Kuo PH, Daly MJ, Chen WJ, Huang H, Ge T, Lin YF · PubMed 38116116

    Genome-wide association studies (GWASs) have identified tens of thousands of genetic loci associated with human complex traits. However, the majority of GWASs were conducted in individuals of European ancestries. Failure to capture global genetic diversity has limited genomic discovery and has impeded equitable delivery of genomic knowledge to diverse populations. Here we report findings from 102,900 individuals across 36 human quantitative traits in the Taiwan Biobank (TWB), a major biobank effort that broadens the population diversity of genetic studies in East Asia. We identified 968 novel genetic loci, pinpointed novel causal variants through statistical fine-mapping, compared the genetic architecture across TWB, Biobank Japan, and UK Biobank, and evaluated the utility of cross-phenoty

  • Dyslipidaemia-Genotype Interactions with Nutrient Intake and Cerebro-Cardiovascular Disease. - Biomedicines (2023) · Lee SB, Choi JE, Park B, Cha MY, Hong KW, Jung DH · PubMed 35884923

    A comprehensive understanding of gene-diet interactions is necessary to establish proper dietary guidelines to prevent and manage cardio-cerebrovascular disease (CCD). We investigated the role of genetic variants associated with dyslipidaemia (DL) and their interactions with macro-nutrients for cardiovascular disease using a large-scale genome-wide association study of Korean adults. A total of 58,701 participants from a Korean genome and epidemiology study were included. Their dietary intake was assessed using a food frequency questionnaire. Dyslipidaemia was defined as total cholesterol (TCHL) ≥ 240 mg/dL, high-density lipoprotein (HDL) < 40 mg/dL, low-density lipoprotein (LDL) ≥ 160 mg/dL, triglycerides (TG) ≥ 200 mg/dL, or dyslipidaemia history. Their nutrient intake was classifi

  • Genome-wide association and Mendelian randomization study of blood copper levels and 213 deep phenotypes in humans. - Communications biology (2022) · Yang W, Li L, Feng X, Cheng H, Ge X, Bao Y, Huang L, Wang F, Liu C, Chen X, Mo Z, Yang X · PubMed 35501403

    Metal elements are present in the human body, and their levels in the blood have important impacts on health. In this study, 2488 Chinese individuals were included in a genome-wide association study of 21 serum metal levels, with approximately 179,000 East Asian individuals in a bidirectional two-sample Mendelian randomization (MR) analysis, and 628,000 Europeans in a two-sample MR analysis. We identified two single nucleotide polymorphisms (SNPs) rs35691438 and rs671 that were significantly associated with serum copper levels (SCLs). The bidirectional two-sample MR analysis in the East Asian population showed that gamma-glutamyl transpeptidase levels have a causal effect on SCLs. SCLs have causal effects on six outcomes, namely risks of esophageal varix, glaucoma, sleep apnea syndrome, an

  • Search for genetic loci involved in the constitution and skin type of a Japanese women using a genome-wide association study. - Experimental dermatology (2022) · Inoue Y, Hasebe Y, Igarashi T, Kawagishi-Hotta M, Okuno R, Yamada T, Hasegawa S · PubMed 34265127

    The constitution and skin type of individuals are influenced by various factors. Recently, the influence of genetic predispositions on these has been emphasized. To date, genome-wide association studies (GWAS) have shown several single nucleotide polymorphisms (SNPs) that affect individual's constitution and skin type. However, these studies have mainly focused on the Caucasian population, and only a few association analyses with the constitution and skin type of individuals involving a Japanese population have been conducted. In this study, we conducted a GWAS analysis of 9 phenotypes regarding the constitution or skin type of 1108 Japanese women based on a questionnaire. As a result, in addition to SNPs known to be involved in phenotypes in the past, we discovered new SNPs and genetic re

  • A genome-wide association study on adherence to low-carbohydrate diets in Japanese. - European journal of clinical nutrition (2022) · Nakamura Y, Tamura T, Narita A, Shimizu A, Sutoh Y, Takashima N, Matsui K, Miyagawa N, Kadota A, Miura K, Otonari J, Ikezaki H, Hishida A, Nagayoshi M, Okada R, Kubo Y, Tanaka K, Shimanoe C, Ibusuki R, Nishimoto D, Oze I, Ito H, Ozaki E, Matsui D, Mikami H, Kusakabe M, Suzuki S, Watanabe M, Arisawa K, Katsuura-Kamano S, Kuriki K, Nakatochi M, Momozawa Y, Kubo M, Takeuchi K, Wakai K · PubMed 35132194

    Low-carbohydrate diets (LCD) are useful for weight reduction, and 50-55% carbohydrate consumption is associated with minimal risk. Genetic differences were related to nutritional consumption, food preferences, and dietary patterns, but whether particular genetic differences in individuals influence LCD adherence is unknown. We conducted a GWAS on adherence to LCD utilizing 14,076 participants from the Japan Multi-Institutional Collaborative Cohort study. We used a previously validated semiquantitative food frequency questionnaire to estimate food consumption. Association of the imputed variants with the LCD score by Halton et al. we used linear regression analysis adjusting for sex, age, total dietary energy consumption, and components 1 to 10 by principal component analysis. We repeated t

  • A Genome-Wide Association Study Identifies the Association between the 12q24 Locus and Black Tea Consumption in Japanese Populations. - Nutrients (2021) · Furukawa K, Igarashi M, Jia H, Nogawa S, Kawafune K, Hachiya T, Takahashi S, Saito K, Kato H · PubMed 33080986

    Several genome-wide association studies (GWASs) have reported the association between genetic variants and the habitual consumption of foods and drinks; however, no association data are available regarding the consumption of black tea. The present study aimed to identify genetic variants associated with black tea consumption in 12,258 Japanese participants. Data on black tea consumption were collected by a self-administered questionnaire, and genotype data were obtained from a single nucleotide polymorphism array. In the discovery GWAS, two loci met suggestive significance ( < 1.0 × 10 ). Three genetic variants (rs2074356, rs144504271, and rs12231737) at 12q24 locus were also significantly associated with black tea consumption in the replication stage ( < 0.05) and during the meta-analysi

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