scholarly journals Gender-Specific Association ofATP2B1Variants with Susceptibility to Essential Hypertension in the Han Chinese Population

2016 ◽  
Vol 2016 ◽  
pp. 1-7 ◽  
Author(s):  
Jin Xu ◽  
Hai-xia Qian ◽  
Su-pei Hu ◽  
Li-ya Liu ◽  
Mi Zhou ◽  
...  
Keyword(s):  
Essential Hypertension ◽  
Chinese Population ◽  
Propensity Score Analysis ◽  
Association Studies ◽  
Han Chinese ◽  
Minor Effect ◽  
Strong Linkage Disequilibrium ◽  
Genome Wide Association Studies ◽  
Han Chinese Population ◽  
Genome Wide

Previous genome-wide association studies (GWASs) found that severalATP2B1variants are associated with essential hypertension (EHT). But the “genome-wide significant”ATP2B1SNPs (rs2681472, rs2681492, rs17249754, and rs1105378) are in strong linkage disequilibrium (LD) and are located in the same LD block in Chinese populations. We asked whether there are other SNPs within theATP2B1gene associated with susceptibility to EHT in the Han Chinese population. Therefore, we performed a case-control study to investigate the association of seven tagSNPs within theATP2B1gene and EHT in the Han Chinese population, and we then analyzed the interaction among different SNPs and nongenetic risk factors for EHT. A total of 902 essential hypertensive cases and 902 normotensive controls were involved in the study. All 7 tagSNPs within theATP2B1gene were retrieved from HapMap, and genotyping was performed using the Tm-shift genotyping method. Chi-squared test, logistic regression, and propensity score analysis showed that rs17249754 was associated with EHT, particularly in females. The MDR analysis demonstrated that the interaction of rs2070759, rs17249754, TC, TG, and BMI increased the susceptibility to hypertension. Crossover analysis and stratified analysis indicated that BMI has a major effect on the development of hypertension, whileATP2B1variants have a minor effect.

Association ofNKAPL,TSPAN18, andMPC2gene variants with schizophrenia based on new data and a meta-analysis in Han Chinese

2016 ◽  
Vol 29 (2) ◽  
pp. 87-94 ◽  
Author(s):  
Zhen Li ◽  
Tingting Shen ◽  
Ran Xin ◽  
Baoyun Liang ◽  
Juan Jiang ◽  
...  
Keyword(s):  
Chinese Population ◽  
Association Studies ◽  
Meta Analysis ◽  
Han Chinese ◽  
Genome Wide Association Studies ◽  
Han Chinese Population ◽  
Genotype Frequencies ◽  
Genome Wide ◽  
Significant Difference ◽  
High Heritability

BackgroundSchizophrenia (SZ) is suggested to be a complex polygenetic disorder with high heritability. Genome-wide association studies have found that the rs1635, rs11038167, and rs10489202 polymorphisms are associated with SZ in Han Chinese. However, results of validation studies are inconsistent. This study aimed to test the association between theNKAPLrs1635,TSPAN18rs11038167, andMPC2rs10489202 polymorphisms and SZ in a Chinese population.MethodsThis study contained 700 unrelated SZ patients (300 Zhuang and 400 Han) and 700 gender- and age-matched controls (300 Zhuang and 400 Han). The polymorphisms inTSPAN18(rs11038167),NKAPL(rs1635), andMPC2(rs10489202) were genotyped using the Sequenom MassARRAY method. Statistical analyses were performed with PLINK program and SPSS l6.0 for Windows. STATA11.1 was used for meta-analysis.ResultsNo statistically significant difference was found in different allele and genotype frequencies of rs1635, rs11038167, and rs10489202 between SZ cases and controls of Zhuang and Han ethnicities and the total samples (allp>0.05). Further meta-analysis suggested that single-nucleotide polymorphism rs10489202 was significantly associated with SZ in a Han Chinese population (pOR=0.002).ConclusionsOur case–control study failed to validate the significant association ofNKAPLrs1635,TSPAN18rs11038167, andMPC2rs10489202 polymorphisms with SZ susceptibility in the southern Zhuang or Han Chinese population. However, meta-analysis showed a significant association betweenMPC2variant rs10489202 and SZ susceptibility in Han Chinese.

scholarly journals Genome-wide association study of morbid obesity in Han Chinese

BMC Genetics ◽  
2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Kuang-Mao Chiang ◽  
Heng-Cheng Chang ◽  
Hsin-Chou Yang ◽  
Chien-Hsiun Chen ◽  
Hsin-Hung Chen ◽  
...  
Keyword(s):  
Morbid Obesity ◽  
Chinese Population ◽  
Association Studies ◽  
Han Chinese ◽  
Genome Wide Association ◽  
Joint Analysis ◽  
Genome Wide Association Studies ◽  
Han Chinese Population ◽  
Second Stage ◽  
Genome Wide

Abstract Background As obesity is becoming pandemic, morbid obesity (MO), an extreme type of obesity, is an emerging issue worldwide. It is imperative to understand the factors responsible for huge weight gain in certain populations in the modern society. Very few genome-wide association studies (GWAS) have been conducted on MO patients. This study is the first MO-GWAS study in the Han-Chinese population in Asia. Methods We conducted a two-stage GWAS with 1110 MO bariatric patients (body mass index [BMI] ≥ 35 kg/m2) from Min-Sheng General Hospital, Taiwan. The first stage involved 575 patients, and 1729 sex- and age-matched controls from the Taiwan Han Chinese Cell and Genome Bank. In the second stage, another 535 patients from the same hospital were genotyped for 52 single nucleotide polymorphisms (SNPs) discovered in the first stage, and 9145 matched controls from Taiwan Biobank were matched for confirmation analysis. Results The results of the joint analysis for the second stage revealed six top ranking SNPs, including rs8050136 (p-value = 7.80 × 10− 10), rs9939609 (p-value = 1.32 × 10− 9), rs1421085 (p-value = 1.54 × 10− 8), rs9941349 (p-value = 9.05 × 10− 8), rs1121980 (p-value = 7.27 × 10− 7), and rs9937354 (p-value = 6.65 × 10− 7), which were all located in FTO gene. Significant associations were also observed between MO and RBFOX1, RP11-638 L3.1, TMTC1, CBLN4, CSMD3, and ERBB4, respectively, using the Bonferroni correction criteria for 52 SNPs (p < 9.6 × 10− 4). Conclusion The most significantly associated locus of MO in the Han-Chinese population was the well-known FTO gene. These SNPs located in intron 1, may include the leptin receptor modulator. Other significant loci, showing weak associations with MO, also suggested the potential mechanism underlying the disorders with eating behaviors or brain/neural development.

scholarly journals Identifying genetic variants for age of migraine onset in a Han Chinese population in Taiwan

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Chia-Kuang Tsai ◽  
Chih-Sung Liang ◽  
Guan-Yu Lin ◽  
Chia-Lin Tsai ◽  
Jiunn-Tay Lee ◽  
...  
Keyword(s):  
Chinese Population ◽  
Association Studies ◽  
Asian Population ◽  
Susceptibility Genes ◽  
Han Chinese ◽  
Genome Wide Association Studies ◽  
Susceptibility Loci ◽  
Significance Level ◽  
Han Chinese Population ◽  
Migraine Pathogenesis

Abstract Background Considering the involvement of genetics in migraine pathogenesis in diverse ethnic populations, genome-wide association studies (GWAS) are being conducted to identify migraine-susceptibility genes. However, limited surveys have focused on the onset age of migraine (AoM) in Asians. Therefore, in this study, we aimed to identify the susceptibility loci of migraine considering the AoM in an Asian population. Methods We conducted a GWAS in 715 patients with migraine of Han Chinese ethnicity, residing in Taiwan, to identify the susceptibility genes associated with AoM. Based on our standard demographic questionnaire, the population was grouped into different subsets. Single-nucleotide polymorphism (SNP) associations were examined using PLINK in different AoM onset groups. Results We discovered eight novel susceptibility loci correlated with AoM that reached the GWAS significance level in the Han Chinese population. First, rs146094041 in ESRRG was associated with AoM $$\le$$ ≤ 12 years. The other SNPs including rs77630941 in CUX1, rs146778855 in CDH18, rs117608715 in NOL3, rs150592309 in PRAP1, and rs181024055 in NRAP were associated with the later AoM. Conclusions To our knowledge, this is the first GWAS to investigate the AoM in an Asian Han Chinese population. Our newly discovered susceptibility genes may have prospective associations with migraine pathogenesis.

scholarly journals PGG.Han: the Han Chinese genome database and analysis platform

2019 ◽  
Vol 48 (D1) ◽  
pp. D971-D976 ◽  
Author(s):  
Yang Gao ◽  
Chao Zhang ◽  
Liyun Yuan ◽  
YunChao Ling ◽  
Xiaoji Wang ◽  
...  
Keyword(s):  
Chinese Population ◽  
Association Studies ◽  
Natural Populations ◽  
Han Chinese ◽  
Genotype Imputation ◽  
Specific Reference ◽  
Single Nucleotide Variants ◽  
Genome Database ◽  
Han Chinese Population ◽  
Genome Wide

Abstract As the largest ethnic group in the world, the Han Chinese population is nonetheless underrepresented in global efforts to catalogue the genomic variability of natural populations. Here, we developed the PGG.Han, a population genome database to serve as the central repository for the genomic data of the Han Chinese Genome Initiative (Phase I). In its current version, the PGG.Han archives whole-genome sequences or high-density genome-wide single-nucleotide variants (SNVs) of 114 783 Han Chinese individuals (a.k.a. the Han100K), representing geographical sub-populations covering 33 of the 34 administrative divisions of China, as well as Singapore. The PGG.Han provides: (i) an interactive interface for visualization of the fine-scale genetic structure of the Han Chinese population; (ii) genome-wide allele frequencies of hierarchical sub-populations; (iii) ancestry inference for individual samples and controlling population stratification based on nested ancestry informative markers (AIMs) panels; (iv) population-structure-aware shared control data for genotype-phenotype association studies (e.g. GWASs) and (v) a Han-Chinese-specific reference panel for genotype imputation. Computational tools are implemented into the PGG.Han, and an online user-friendly interface is provided for data analysis and results visualization. The PGG.Han database is freely accessible via http://www.pgghan.org or https://www.hanchinesegenomes.org.

Abstract TP134: Genome Wide Association Studies in Han Chinese Populations Identify Novel Susceptibility Loci for Specific Ischemic Stroke Subtypes

Stroke ◽  
2016 ◽  
Vol 47 (suppl_1) ◽  
Author(s):  
Tai-Ming Ko ◽  
Tsong-Hai Lee Lee ◽  
Chien-Hsiun Chen ◽  
Yuan-Tsong Chen ◽  
Jer-Yuarn Wu
Keyword(s):  
Ischemic Stroke ◽  
Chinese Population ◽  
Genetic Factors ◽  
Han Chinese ◽  
Genome Wide Association ◽  
Papillary Thyroid ◽  
Susceptibility Loci ◽  
Han Chinese Population ◽  
Chinese Populations ◽  
Genome Wide

Introduction: Although family history studies in ischemic stroke support that genetic factors may be involved in the pathogenesis of two major subtypes of ischemia stroke: large-artery atherosclerosis (LAA) and small-vessel occlusion (SVO), it is still unclear which particular genetic factors contribute to LAA or SVO. Hypothesis: Because the etiology of ischemic stroke is heterogeneous, we hypothesize that genetic factors may vary by etiologic subtypes or ethnicities. Thus, we aim to identify genetic factors that contribute to LAA or SVO based on two independent Han Chinese populations. Methods: Novel genetic variants that predispose individuals to LAA and SVO were identified by genome-wide association study comprising of 824 individuals (including 444 LAA cases and 380 SVO cases) and 1,727 controls in a Han Chinese population residing in Taiwan. The LAA study was replicated in an independent Han Chinese population comprising of an additional 319 LAA cases and 1,802 controls. Results: In LAA cases, from two independent populations, we identified five single-nucleotide polymorphisms (SNPs), including SNP-1 (P = 3.10 х 10–8), SNP-2 (P = 4.00 х 10–9), SNP-3 (P = 3.57 х 10–8), SNP-4 (P = 1.76 х 10–8), and SNP-5 (P = 2.92 х 10–8), at one novel locus on chromosome 14q13.3 within PTCSC3 (encoding papillary thyroid carcinoma susceptibility candidate 3). In SVO cases, from the discovery stage, we identified two novel candidate susceptibility loci on chromosome 3p25.3 (SNP-6, P = 3.24 х 10–5) and chromosome 14 q31.1 (SNP-7, P = 2.58 х 10–4). Conclusions: For LAA, the newly identified SNPs within PTCSC3 gene were found to have genome-wide statistical significance (P < 5 х 10–8) and were shown to be located in a risk locus correlated with papillary thyroid carcinoma. Moreover, the genetic association between PTCSC3 gene and SVO was not identified, which suggested that PTCSC3 is a specific susceptibility locus for LAA. For SVO, we identified two novel candidate genetic loci which were valuable for replication by an independent population with SVO. In conclusion, our findings provide insights into the genetic basis of LAA and SVO, which may be applicable in the study of the pathogenesis of ischemic stroke and in the development of alternative therapeutic interventions.

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