Genome-wide Association Study of Autism Spectrum Disorder in the East Asian Populations

2015 ◽  
Vol 9 (3) ◽  
pp. 340-349 ◽  
Author(s):  
Xiaoxi Liu ◽  
Takafumi Shimada ◽  
Takeshi Otowa ◽  
Yu-Yu Wu ◽  
Yoshiya Kawamura ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Association Study ◽  
Genome Wide Association Study ◽  
East Asian ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Genome Wide Association ◽  
Asian Populations ◽  
Genome Wide

scholarly journals Genome-Wide Association Study for Autism Spectrum Disorder in Taiwanese Han Population

PLoS ONE ◽  
2015 ◽  
Vol 10 (9) ◽  
pp. e0138695 ◽  
Author(s):  
Po-Hsiu Kuo ◽  
Li-Chung Chuang ◽  
Mei-Hsin Su ◽  
Chia-Hsiang Chen ◽  
Chien-Hsiun Chen ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Association Study ◽  
Genome Wide Association Study ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Genome Wide Association ◽  
Han Population ◽  
Genome Wide

scholarly journals Genome-wide association study of pigmentary traits (skin and iris color) in individuals of East Asian ancestry

PeerJ ◽  
2017 ◽  
Vol 5 ◽  
pp. e3951 ◽  
Author(s):  
Lida Rawofi ◽  
Melissa Edwards ◽  
S Krithika ◽  
Phuong Le ◽  
David Cha ◽  
...  
Keyword(s):  
Association Study ◽  
Genome Wide Association Study ◽  
East Asian ◽  
Skin Pigmentation ◽  
Genome Wide Association ◽  
Asian Populations ◽  
Iris Color ◽  
Asian Ancestry ◽  
Genome Wide ◽  
East Asian Ancestry

Background Currently, there is limited knowledge about the genetics underlying pigmentary traits in East Asian populations. Here, we report the results of the first genome-wide association study of pigmentary traits (skin and iris color) in individuals of East Asian ancestry. Methods We obtained quantitative skin pigmentation measures (M-index) in the inner upper arm of the participants using a portable reflectometer (N = 305). Quantitative measures of iris color (expressed as L*, a* and b* CIELab coordinates) were extracted from high-resolution iris pictures (N = 342). We also measured the color differences between the pupillary and ciliary regions of the iris (e.g., iris heterochromia). DNA samples were genotyped with Illumina’s Infinium Multi-Ethnic Global Array (MEGA) and imputed using the 1000 Genomes Phase 3 samples as reference haplotypes. Results For skin pigmentation, we did not observe any genome-wide significant signal. We followed-up in three independent Chinese samples the lead SNPs of five regions showing multiple common markers (minor allele frequency ≥ 5%) with good imputation scores and suggestive evidence of association (p-values < 10−5). One of these markers, rs2373391, which is located in an intron of the ZNF804B gene on chromosome 7, was replicated in one of the Chinese samples (p = 0.003). For iris color, we observed genome-wide signals in the OCA2 region on chromosome 15. This signal is driven by the non-synonymous rs1800414 variant, which explains 11.9%, 10.4% and 6% of the variation observed in the b*, a* and L* coordinates in our sample, respectively. However, the OCA2 region was not associated with iris heterochromia. Discussion Additional genome-wide association studies in East Asian samples will be necessary to further disentangle the genetic architecture of pigmentary traits in East Asian populations.

scholarly journals Clustering by phenotype and genome-wide association study in autism

2019 ◽  
Author(s):  
Akira Narita ◽  
Masato Nagai ◽  
Satoshi Mizuno ◽  
Soichi Ogishima ◽  
Gen Tamiya ◽  
...  
Keyword(s):  
Association Study ◽  
Complex Disease ◽  
Genome Wide Association Study ◽  
Autism Spectrum ◽  
Genome Wide Association ◽  
Second Step ◽  
Cluster Number ◽  
Genome Wide ◽  
Preliminary Study ◽  
Chromosomal Loci

AbstractBackgroundAutism spectrum disorder (ASD) has phenotypically and genetically heterogeneous characteristics. A simulation study demonstrated that attempts to categorize patients with a complex disease into more homogeneous subgroups could have more power to elucidate hidden heritability.MethodsWe conducted cluster analyses using the k-means algorithm with a cluster number of 15 based on phenotypic variables from the Simons Simplex Collection (SSC). As a preliminary study, we conducted a conventional genome-wide association study (GWAS) with a dataset of 597 ASD cases and 370 controls. In the second step, we divided cases based on the clustering results and conducted GWAS in each of the subgroups vs controls (cluster-based GWAS). We also conducted cluster-based GWAS on another SSC dataset of 712 probands and 354 controls in the replication stage.ResultsIn the preliminary study, we observed no significant associations. In the second step of cluster-based GWASs, we identified 65 chromosomal loci, which included 30 intragenic loci located in 21 genes and 35 intergenic loci that satisfied the threshold of P<5.0×10−8. Some of these loci were located within or near previously reported candidate genes for ASD: CDH5, CNTN5, CNTNAP5, DNAH17, DPP10, DSCAM, FOXK1, GABBR2, GRIN2A5, ITPR1, NTM, SDK1, SNCA and SRRM4. Of these 65 significant chromosomal loci, rs11064685 located within the SRRM4 gene had a significantly different distribution in the cases vs. controls in the replication cohort.ConclusionsThese findings suggest that clustering may successfully identify subgroups with relatively homogeneous disease etiologies. Further cluster validation and replication studies are warranted in larger cohorts.

scholarly journals A genome-wide association study identifies a novel candidate locus at the DLGAP1 gene with susceptibility to resistant hypertension in the Japanese population

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Yasuo Takahashi ◽  
Keiko Yamazaki ◽  
Yoichiro Kamatani ◽  
Michiaki Kubo ◽  
Koichi Matsuda ◽  
...  
Keyword(s):  
Association Study ◽  
Resistant Hypertension ◽  
Japanese Population ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Neuron Development ◽  
Candidate Locus ◽  
Asian Populations ◽  
Genome Wide ◽  
A Genome

AbstractNumerous genetic variants associated with hypertension and blood pressure are known, but there is a paucity of evidence from genetic studies of resistant hypertension, especially in Asian populations. To identify novel genetic loci associated with resistant hypertension in the Japanese population, we conducted a genome-wide association study with 2705 resistant hypertension cases and 21,296 mild hypertension controls, all from BioBank Japan. We identified one novel susceptibility candidate locus, rs1442386 on chromosome 18p11.3 (DLGAP1), achieving genome-wide significance (odds ratio (95% CI) = 0.85 (0.81–0.90), P = 3.75 × 10−8) and 18 loci showing suggestive association, including rs62525059 of 8q24.3 (CYP11B2) and rs3774427 of 3p21.1 (CACNA1D). We further detected biological processes associated with resistant hypertension, including chemical synaptic transmission, regulation of transmembrane transport, neuron development and neurological system processes, highlighting the importance of the nervous system. This study provides insights into the etiology of resistant hypertension in the Japanese population.

scholarly journals Novel Insight Into the Etiology of Autism Spectrum Disorder Gained by Integrating Expression Data With Genome-wide Association Statistics

2019 ◽  
Vol 86 (4) ◽  
pp. 265-273 ◽  
Author(s):  
Oliver Pain ◽  
Andrew J. Pocklington ◽  
Peter A. Holmans ◽  
Nicholas J. Bray ◽  
Heath E. O’Brien ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Genome Wide Association ◽  
Expression Data ◽  
Genome Wide ◽  
Insight Into

scholarly journals A Genome-Wide Association Study Identifies a Novel Susceptibility Locus at The DLGAP1 Gene For Resistant Hypertension in The Japanese Population

2021 ◽  
Author(s):  
Yasuo Takahashi ◽  
Keiko Yamazaki ◽  
Yoichiro Kamatani ◽  
Michiaki Kubo ◽  
Koichi Matsuda ◽  
...  
Keyword(s):  
Association Study ◽  
Resistant Hypertension ◽  
Japanese Population ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Susceptibility Locus ◽  
Neuron Development ◽  
Asian Populations ◽  
Genome Wide ◽  
A Genome

Abstract Numerous genetic variants associated with hypertension and blood pressure are known, but there is a paucity of evidence from genetic studies of resistant hypertension, especially in the Asian populations. To identify novel genetic loci associated with resistant hypertension in the Japanese population, we conducted a genome-wide association study with 2,705 resistant hypertension cases and 21,296 mild hypertension controls, all from BioBank Japan. We identified one novel susceptibility locus, rs1442386 on chromosome 18p11.3 (DLGAP1), achieving genome-wide significance (odds ratio (95% CI) = 0.85 (0.81–0.90), P = 3.75 × 10−8) and 17 loci showing suggestive association, including rs62525059 of 8q24.3 (CYP11B2). We further detected biological processes associated with resistant hypertension, including chemical synaptic transmission, regulation of transmembrane transport, neuron development and neurological system processes, highlighting the importance of the nervous system. This study provides insights into the etiology of resistant hypertension in the Japanese population.

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