SNPs at TP63 gene was specifically associated with right‐side cleft lip in Han Chinese population

Oral Diseases ◽  
2020 ◽  
Author(s):  
Bin Yin ◽  
Jia‐Yu Shi ◽  
Yan‐Song Lin ◽  
Bing Shi ◽  
Zhong‐Lin Jia
Keyword(s):  
Chinese Population ◽  
Cleft Lip ◽  
Han Chinese ◽  
Han Chinese Population

Mutation at Paired box gene 9 is associated with non-syndromic cleft lip only from Western Han Chinese population

2020 ◽  
Vol 117 ◽  
pp. 104829
Author(s):  
Cheng-wei Yang ◽  
Jia-yu Shi ◽  
Bin Yin ◽  
Bing Shi ◽  
Zhong-lin Jia
Keyword(s):  
Chinese Population ◽  
Cleft Lip ◽  
Han Chinese ◽  
Han Chinese Population

Homozygote C/C at rs12543318 was risk factor for non-syndromic cleft lip only from Western Han Chinese population

2018 ◽  
Vol 47 (6) ◽  
pp. 620-626
Author(s):  
Bi-He Zhang ◽  
Ning Huang ◽  
Jia-Yu Shi ◽  
Bing Shi ◽  
Zhong-Lin Jia
Keyword(s):  
Risk Factor ◽  
Chinese Population ◽  
Cleft Lip ◽  
Han Chinese ◽  
Han Chinese Population

Association of SNP rs1867277 in FOXE1 Gene and Cleft Lip with or without Cleft Palate in a Han Chinese Population

2018 ◽  
Vol 37 (2) ◽  
pp. 89-94 ◽  
Author(s):  
Liang Xie ◽  
Ying Deng ◽  
Yumei Yuan ◽  
Xiong Tan ◽  
Lijun Liu ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Chinese Population ◽  
Cleft Lip ◽  
Han Chinese ◽  
Han Chinese Population ◽  
Foxe1 Gene

NTN1 gene was risk to non-syndromic cleft lip only among Han Chinese population

Oral Diseases ◽  
2018 ◽  
Vol 25 (2) ◽  
pp. 535-542 ◽  
Author(s):  
ShuYuan Jiang ◽  
Jia-Yu Shi ◽  
Yan-Song Lin ◽  
Shi-Jun Duan ◽  
Xieli Chen ◽  
...  
Keyword(s):  
Chinese Population ◽  
Cleft Lip ◽  
Han Chinese ◽  
Han Chinese Population

Association Between SNPs in 1q32.2 and NSCL ± P in Han Chinese Population

2021 ◽  
pp. 105566562110528
Author(s):  
Bin Yin ◽  
Jia-Yu Shi ◽  
Bing Shi ◽  
Qian Zheng ◽  
Zhong-Lin Jia
Keyword(s):  
Cleft Palate ◽  
Genetic Variants ◽  
Chinese Population ◽  
Cleft Lip ◽  
Medical Center ◽  
R Package ◽  
Han Chinese ◽  
Han Chinese Population ◽  
New Evidence ◽  
Gwa Studies

Objectives Non-syndromic cleft lip with or without cleft palate (NSCL ±  P) is one of the most common birth malformations. Currently, numerous susceptibility SNPs have been reported by GWA studies, however, the replications of them among NSCL ±  P from Han Chinese were very limited. Design In this study, we selected 16 SNPs around 1q32.2 based on the published GWA studies and replicated them among 302 trios with NSCL ±  P from Han Chinese Population. The genotypic data was analyzed with FBAT, PLINK and R package. Setting The study was conducted in a tertiary medical center. Patients, participants 302 patients with CL ±  P and their parents. Main outcome measures To ascertain the genetic variants in 1q32.2 in patients with CL ±  P in Han Chinese Population. Interventions Blood samples were collected. Results We found T allele ( Z = 4.26, p = 0.00002) and T/T homozygotes ( Z = 4.4, p = 0.000011) at rs12063989 was significantly over-transmitted among non-syndromic cleft lip with or without cleft palate (NSCL ±  P). Conclusions We found rs12063989 exhibited significant association with the occurrence of NSCL ±  P, which would provide new evidence for the future study in the etiology of NSCL ±  P.

scholarly journals Association of Lipoprotein (a) variants with risk of cardiovascular disease: a Mendelian randomization study

2021 ◽  
Vol 20 (1) ◽  
Author(s):  
Juan Xia ◽  
Chunyue Guo ◽  
Kuo Liu ◽  
Yunyi Xie ◽  
Han Cao ◽  
...  
Keyword(s):  
Heart Failure ◽  
Atrial Fibrillation ◽  
Cardiovascular Disease ◽  
Chinese Population ◽  
Left Ventricular Mass Index ◽  
Mendelian Randomization ◽  
Left Ventricular ◽  
Han Chinese ◽  
Han Chinese Population ◽  
Internal Dimension

Abstract Background There is a well-documented empirical relationship between lipoprotein (a) [Lp(a)] and cardiovascular disease (CVD); however, causal evidence, especially from the Chinese population, is lacking. Therefore, this study aims to estimate the causal association between variants in genes affecting Lp(a) concentrations and CVD in people of Han Chinese ethnicity. Methods Two-sample Mendelian randomization analysis was used to assess the causal effect of Lp(a) concentrations on the risk of CVD. Summary statistics for Lp(a) variants were obtained from 1256 individuals in the Cohort Study on Chronic Disease of Communities Natural Population in Beijing, Tianjin and Hebei. Data on associations between single-nucleotide polymorphisms (SNPs) and CVD were obtained from recently published genome-wide association studies. Results Thirteen SNPs associated with Lp(a) levels in the Han Chinese population were used as instrumental variables. Genetically elevated Lp(a) was inversely associated with the risk of atrial fibrillation [odds ratio (OR), 0.94; 95% confidence interval (95%CI), 0.901–0.987; P = 0.012)], the risk of arrhythmia (OR, 0.96; 95%CI, 0.941–0.990; P = 0.005), the left ventricular mass index (OR, 0.97; 95%CI, 0.949–1.000; P = 0.048), and the left ventricular internal dimension in diastole (OR, 0.97; 95%CI, 0.950–0.997; P = 0.028) according to the inverse-variance weighted method. No significant association was observed for congestive heart failure (OR, 0.99; 95% CI, 0.950–1.038; P = 0.766), ischemic stroke (OR, 1.01; 95%CI, 0.981–1.046; P = 0.422), and left ventricular internal dimension in systole (OR, 0.98; 95%CI, 0.960–1.009; P = 0.214). Conclusions This study provided evidence that genetically elevated Lp(a) was inversely associated with atrial fibrillation, arrhythmia, the left ventricular mass index and the left ventricular internal dimension in diastole, but not with congestive heart failure, ischemic stroke, and the left ventricular internal dimension in systole in the Han Chinese population. Further research is needed to identify the mechanism underlying these results and determine whether genetically elevated Lp(a) increases the risk of coronary heart disease or other CVD subtypes.

Common variants in IL17F gene contributed to the risk of hip osteoarthritis susceptibility in Han Chinese population

2020 ◽  
Vol 23 (8) ◽  
pp. 1050-1056
Author(s):  
Tianyun Zhao ◽  
Chi Ma ◽  
Wei Wang ◽  
Bin Zhao ◽  
Baopin Xie ◽  
...  
Keyword(s):  
Chinese Population ◽  
Hip Osteoarthritis ◽  
Han Chinese ◽  
Common Variants ◽  
Han Chinese Population

scholarly journals Role of CASP7 polymorphisms in noise-induced hearing loss risk in Han Chinese population

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Yanmei Ruan ◽  
Jinwei Zhang ◽  
Shiqi Mai ◽  
Wenfeng Zeng ◽  
Lili Huang ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Chinese Population ◽  
Conditional Logistic Regression ◽  
Han Chinese ◽  
Control Group ◽  
Environment Interaction ◽  
Noise Induced Hearing Loss ◽  
Han Chinese Population ◽  
Hearing Thresholds ◽  
Increased Risk

AbstractGenetic factors and gene-environment interaction may play an important role in the development of noise induced hearing loss (NIHL). 191 cases and 191 controls were selected by case–control study. Among them, case groups were screened from workers exposed to noise in binaural high-frequency hearing thresholds greater than 25 dB (A). Workers with hearing thresholds ≤ 25 dB (A) in any binaural frequency band were selected to the control group, based on matching factors such as age, exposure time to noise, and operating position. The blood samples from two groups of workers were subjected to DNA extraction and SNP sequencing of CASP3 and CASP7 genes using the polymerase chain reaction ligase detection reaction method. Conditional logistic regression correction was used to analyze the genetic variation associated with susceptibility to NIHL. There was an association between rs2227310 and rs4353229 of the CASP7 gene and the risk of NIHL. Compared with the GG genotype, the CC genotype of rs2227310 reduced the risk of NIHL. Compared with CC genotype, the TT genotype of rs4353229 reduced the risk of NIHL. Workers carrying the rs2227310GG and rs4353229CC genotype had an increased risk of NIHL compared to workers without any high-risk genotype. There were additive interaction and multiplication interaction between CASP7rs2227310 and CNE, and the same interaction between CASP7rs4353229 and CNE. The interaction between the CASP7 gene and CNE significantly increased the risk of NIHL. The genetic polymorphisms of CASP7rs2227310GG and CASP7rs4353229CC were associated with an increased risk of NIHL in Han Chinese population and have the potential to act as biomarkers for noise-exposed workers.

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