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.

scholarly journals Pharmacokinetics and Pharmacodynamics of Meloxicam in East Asian Populations: The Role of Ethnicity on Drug Response

2017 ◽  
Vol 6 (12) ◽  
pp. 823-832 ◽  
Author(s):  
Takahiko Aoyama ◽  
Yoshimasa Ishida ◽  
Masato Kaneko ◽  
Aoi Miyamoto ◽  
Yoshiro Saito ◽  
...  
Keyword(s):  
Drug Response ◽  
East Asian ◽  
Pharmacokinetics And Pharmacodynamics ◽  
Asian 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 The role of polymorphisms associated with early tooth eruption in dental and occlusal traits in East Asian populations

2014 ◽  
Vol 44 (2) ◽  
pp. 96 ◽  
Author(s):  
Tetsutaro Yamaguchi ◽  
Akira Kawaguchi ◽  
Yong-Il Kim ◽  
Shugo Haga ◽  
Koshu Katayama ◽  
...  
Keyword(s):  
East Asian ◽  
Tooth Eruption ◽  
Asian Populations

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 &lt; 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 &lt; 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 Association of the OCA2 Polymorphism His615Arg with Melanin Content in East Asian Populations: Further Evidence of Convergent Evolution of Skin Pigmentation

PLoS Genetics ◽  
2010 ◽  
Vol 6 (3) ◽  
pp. e1000867 ◽  
Author(s):  
Melissa Edwards ◽  
Abigail Bigham ◽  
Jinze Tan ◽  
Shilin Li ◽  
Agnes Gozdzik ◽  
...  
Keyword(s):  
Convergent Evolution ◽  
East Asian ◽  
Skin Pigmentation ◽  
Melanin Content ◽  
Asian Populations

scholarly journals Transient neonatal hyperpigmentation of the proximal nail fold in a Chinese infant: a case report

2022 ◽  
Vol 50 (1) ◽  
pp. 030006052110677
Author(s):  
Lu Wang ◽  
Daming Zuo ◽  
Ledong Sun
Keyword(s):  
Physiological Responses ◽  
East Asian ◽  
Skin Pigmentation ◽  
Newborn Infants ◽  
Distal Phalanx ◽  
Asian Populations ◽  
Black Skin ◽  
Hands And Feet ◽  
Nail Pigmentation ◽  
Pigmentation Disorders

Cutaneous alterations are common in neonates and usually occur in the first few days of life. Most of these are transient and benign, appearing as physiological responses to birth. Skin pigmentation disorders are considered transitory dermatoses of newborn infants. Nail pigmentation manifests as asymptomatic brown to bluish-black skin pigmentation over the fingers and toes in newborns. Hyperpigmentation of the distal phalanx of both hands and feet is commonly found in dark-skinned newborns, but it is rare in fair-skinned newborns and East Asian populations. We herein describe a Chinese infant with transient neonatal hyperpigmentation of the proximal nail fold.

Differences in East Asian Self-Gifting and Role of Independence Within Interdependent Cultures

2013 ◽  
Author(s):  
Satoko Suzuki ◽  
Kosuke Takemura ◽  
Takeshi Hamamura
Keyword(s):  
East Asian

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
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