scholarly journals Exome-Wide Association Study Identifies East Asian-Specific Missense Variant MTHFR C136T Influencing Homocysteine Levels in Chinese Populations RH: ExWAS of tHCY in a Chinese Population

2021 ◽  
Vol 12 ◽  
Author(s):  
Tianzi Liu ◽  
Mohetaboer Momin ◽  
Huiyue Zhou ◽  
Qiwen Zheng ◽  
Fangfang Fan ◽  
...  
Keyword(s):  
Association Study ◽  
Characteristic Curve ◽  
East Asian ◽  
Missense Variant ◽  
Northern China ◽  
Compound Heterozygote ◽  
Replication Study ◽  
Chinese Han ◽  
Asian Populations ◽  
Wide Range

Plasma total homocysteine (tHCY) is a known risk factor of a wide range of complex diseases. No genome scans for tHCY have been conducted in East Asian populations. Here, we conducted an exome-wide association study (ExWAS) for tHCY in 5,175 individuals of Chinese Han origin, followed by a replication study in 668 Chinese individuals. The ExWAS identified two loci, 1p36.22 (lead single-nucleotide polymorphism (SNP) rs1801133, MTHFR C677T) and 16q24.3 (rs1126464, DPEP1), showing exome-wide significant association with tHCY (p < 5E−7); and both loci have been previously associated with tHCY in non-East Asian populations. Both SNPs were replicated in the replication study (p < 0.05). Conditioning on the genotype of C677T and rs1126464, we identified a novel East Asian-specific missense variant rs138189536 (C136T) of MTHFR (p = 6.53E−10), which was also significant in the replication study (p = 9.8E−3). The C136T and C677T variants affect tHCY in a compound heterozygote manner, where compound heterozygote and homozygote genotype carriers had on average 43.4% increased tHCY than had other genotypes. The frequency of the homozygote C677T genotype showed an inverse-U-shaped geospatial pattern globally with a pronounced frequency in northern China, which coincided with the high prevalence of hyperhomocysteinemia (HHCY) in northern China. A logistic regression model of HHCY status considering sex, age, and the genotypes of the three identified variants reached an area under the receiver operating characteristic curve (AUC) value of 0.74 in an independent validation cohort. These genetic observations provide new insights into the presence of multiple causal mutations at the MTHFR locus, highlight the role of genetics in HHCY epidemiology among different populations, and provide candidate loci for future functional studies.

scholarly journals Genetic Structural Differentiation Analyses of Intercontinental Populations and Ancestry Inference of the Chinese Hui Group Based on a Novel Developed Autosomal AIM-InDel Genotyping System

2020 ◽  
Vol 2020 ◽  
pp. 1-12
Author(s):  
Tong Xie ◽  
Chunmei Shen ◽  
Xiaoye Jin ◽  
Qiong Lan ◽  
Yating Fang ◽  
...  
Keyword(s):  
Genetic Relationships ◽  
East Asian ◽  
Fixation Index ◽  
Scaling Analysis ◽  
Component Ratio ◽  
Ancestry Informative Marker ◽  
Structural Differentiation ◽  
Chinese Han ◽  
Asian Populations ◽  
Ancestry Inference

In the present study, we investigated the genetic polymorphisms of 39 ancestry informative marker-insertion/deletion (AIM-InDel) loci in the Chinese Hui group using a previously self-developed panel, further clarified the genetic relationships between the Hui group and other reference populations, and assessed the ancestry inference efficiency of the AIM-InDel panel based on the worldwide population data from 1000 Genomes Phase 3. The results of the locus-specific informativeness (In) and pairwise fixation index (Fst) values, multidimensional scaling analysis, and success ratio of estimation with cross-validation showed that the novel panel could well reveal the genetic structural differentiations of the East Asian, European, African, and South Asian populations. Besides, the biogeographical ancestry origin inference both at the individual and population levels was conducted on the Chinese Hui group by principal component analysis and STRUCTURE analysis, and the results revealed that the Hui group had the East Asian origin, and the East Asian component ratio of Hui group was approximately 88.87%. Furthermore, the population genetic analyses among the Hui group and reference populations were performed based on the insertion allele frequency heat map, population pairwise Fst values and phylogenetic tree, and the results indicated that the Hui group was genetically closer to East Asian populations, especially two Chinese Han populations (CHS and CHB populations).

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 Exome-wide Association Study IdentifiesCLEC3BMissense Variant p.S106G as Being Associated With Extreme Longevity in East Asian Populations

2016 ◽  
pp. glw074 ◽  
Author(s):  
Kumpei Tanisawa ◽  
Yasumichi Arai ◽  
Nobuyoshi Hirose ◽  
Hiroshi Shimokata ◽  
Yoshiji Yamada ◽  
...  
Keyword(s):  
Association Study ◽  
East Asian ◽  
Asian Populations ◽  
Extreme Longevity

scholarly journals Palaeoproteomic analysis of Pleistocene cave hyenas from east Asia

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Huiyun Rao ◽  
Yimin Yang ◽  
Jinyi Liu ◽  
Michael V. Westbury ◽  
Chi Zhang ◽  
...  
Keyword(s):  
East Asia ◽  
Ancient Dna ◽  
East Asian ◽  
Northern China ◽  
Molecular Data ◽  
Spotted Hyena ◽  
Proteomic Data ◽  
Asian Populations ◽  
Extant Species ◽  
Molecular Phylogenetic

Abstract The spotted hyena (Crocuta crocuta) is the only extant species of the genus Crocuta, which once occupied a much wider range during the Pliocene and Pleistocene. However, its origin and evolutionary history is somewhat contentious due to discordances between morphological, nuclear, and mitochondrial data. Due to the limited molecular data from east Asian Crocuta, also known as cave hyena, and the difficulty of extracting ancient DNA from this area, here we present proteomic analysis of cave hyenas from three locations in northern China. This marks the first proteomic data generated from cave hyenas, adding new molecular data to the east Asian populations. Phylogenetic analysis based on these protein sequences reveals two different groups of cave hyenas in east Asia, one of which could not be distinguished from modern spotted hyenas from northern Africa, tentatively the result of previously suggested gene flow between these lineages. With developments of instrumentation and analytical methods, proteomics holds promising potential for molecular phylogenetic reconstructions of ancient fauna previously thought to be unreachable using ancient DNA.

Association study confirms the role of twoOCA2polymorphisms in normal skin pigmentation variation in East Asian populations

2015 ◽  
Vol 27 (4) ◽  
pp. 520-525 ◽  
Author(s):  
Katherine Eaton ◽  
Melissa Edwards ◽  
S. Krithika ◽  
Gillian Cook ◽  
Heather Norton ◽  
...  
Keyword(s):  
Association Study ◽  
Normal Skin ◽  
East Asian ◽  
Skin Pigmentation ◽  
Asian Populations

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.

The Colonial Documentary Film in South and South-East Asia

2017 ◽  
Keyword(s):  
East Asia ◽  
Subject Matter ◽  
Documentary Film ◽  
East Asian ◽  
South East Asia ◽  
Post Colonial ◽  
Historical Perspectives ◽  
The Third ◽  
Wide Range ◽  
Global Understanding

Writing from a wide range of historical perspectives, contributors to the anthology shed new light on historical, theoretical and empirical issues pertaining to the documentary film, in order to better comprehend the significant transformations of the form in colonial, late colonial and immediate post-colonial and postcolonial times in South and South-East Asia. In doing so, this anthology addresses an important gap in the global understanding of documentary discourses, practices, uses and styles. Based upon in-depth essays written by international authorities in the field and cutting-edge doctoral projects, this anthology is the first to encompass different periods, national contexts, subject matter and style in order to address important and also relatively little-known issues in colonial documentary film in the South and South-East Asian regions. This anthology is divided into three main thematic sections, each of which crosses national or geographical boundaries. The first section addresses issues of colonialism, late colonialism and independence. The second section looks at the use of the documentary film by missionaries and Christian evangelists, whilst the third explores the relation between documentary film, nationalism and representation.

1188-P: Glycemic Efficacy of Sitagliptin in East Asian Populations: A Pooled Analysis

Diabetes ◽  
2019 ◽  
Vol 68 (Supplement 1) ◽  
pp. 1188-P
Author(s):  
JOAO M. CONCEICAO ◽  
CLAUDIO D. GONZALEZ ◽  
SAMUEL S. ENGEL ◽  
JONGHO AHN ◽  
SHIGERU TOKITA ◽  
...  
Keyword(s):  
East Asian ◽  
Pooled Analysis ◽  
Asian Populations

Complications of Asian Double Eyelid Surgery: Prevention and Management

2020 ◽  
Vol 36 (05) ◽  
pp. 592-601
Author(s):  
Stephanie Ming Young ◽  
Yoon-Duck Kim
Keyword(s):  
East Asian ◽  
Eyelid Surgery ◽  
Patient Dissatisfaction ◽  
Optimal Outcomes ◽  
Asian Populations ◽  
Underlying Causes ◽  
Double Eyelid

AbstractDouble eyelid surgery remains one of the most popular aesthetic surgeries, especially among East Asian populations. Complications related to double eyelid surgery can be divided into various categories: (1) patient dissatisfaction, (2) problems with the eyelid crease, (3) problems with the eyelid height, (4) suture-related complications, and (5) complications related to eyelid surgery in general. As with all eyelid surgeries, it is important to understand and appreciate the normal and abnormal function and anatomy of the Asian eyelid to reduce the risk of complications. It is also important to recognize the various complications and their underlying causes so that the surgeon can confidently revise the surgery to achieve optimal outcomes.

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