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2022 ◽  
Vol 11 ◽  
pp. 295-300
Author(s):  
Xin Xiong ◽  
Qinlanhui Zhang ◽  
Yang Liu

Objectives: The objective of the study is to determine the relationships between ramus height and occlusal planes (OPs) in Han Chinese individuals with normal occlusion. Materials and Methods: Two hundred and four participants with normal occlusion were included and their cephalograms were analyzed. The ramus height (Ar-Go), Frankfort horizontal plane-posterior OP (FH-POP), FH-anterior OP (FH-AOP) and FH-OP, anterior and posterior cranial base length, SNA, SNB, ANB, Frankfort-mandibular plane angle, SN-MP, jaw angle, and mandibular body length were measured on the subjects’ cephalograms. Pearson correlation coefficients were calculated among continuous variables. The ramus height was considered as dependent variable and the OPs as independent variables. Age, sex, and other cephalometric parameters were considered as possible confounding factors. Univariate and multivariate analyses were performed to determine whether the relationships were significant. Results: The FH-POP and FH-OP were moderately associated with ramus height, while the FH-AOP showed a weak association (P < 0.001). After adjusting age and sex, FH-POP, FH-AOP, and FH-OP showed significant negative associations with ramus height (β = −0.36, −0.28, and −0.37, respectively, P < 0.001). The OP flattened with the ramus height increased. After adjusting all the confounding factors, FH-POP and FH-OP showed significant negative associations with ramus height. The ramus height increased by 0.19 mm/1° flattening of FHPOP (β = −0.19, P = 0.002). Conclusion: After adjust age, sex, and other possible confounding factors, the FH-POP and FH-OP were associated with the ramus height. The flattening of FH-POP was associated with the increase of ramus height. The results should be treated with caution since it’s a cross-sectional study.


2022 ◽  
Vol 7 (1) ◽  
Author(s):  
Yi Liu ◽  
Yuqiang Lv ◽  
Mehdi Zarrei ◽  
Rui Dong ◽  
Xiaomeng Yang ◽  
...  

AbstractCopy number variants (CNVs) are recognized as a crucial genetic cause of neurodevelopmental disorders (NDDs). Chromosomal microarray analysis (CMA), the first-tier diagnostic test for individuals with NDDs, has been utilized to detect CNVs in clinical practice, but most reports are still from populations of European ancestry. To contribute more worldwide clinical genomics data, we investigated the genetic etiology of 410 Han Chinese patients with NDDs (151 with autism and 259 with unexplained intellectual disability (ID) and developmental delay (DD)) using CMA (Affymetrix) after G-banding karyotyping. Among all the NDD patients, 109 (26.6%) carried clinically relevant CNVs or uniparental disomies (UPDs), and 8 (2.0%) had aneuploidies (6 with trisomy 21 syndrome, 1 with 47,XXY, 1 with 47,XYY). In total, we found 129 clinically relevant CNVs and UPDs, including 32 CNVs in 30 ASD patients, and 92 CNVs and 5 UPDs in 79 ID/DD cases. When excluding the eight patients with aneuploidies, the diagnostic yield of pathogenic and likely pathogenic CNVs and UPDs was 20.9% for all NDDs (84/402), 3.3% in ASD (5/151), and 31.5% in ID/DD (79/251). When aneuploidies were included, the diagnostic yield increased to 22.4% for all NDDs (92/410), and 33.6% for ID/DD (87/259). We identified a de novo CNV in 14.9% (60/402) of subjects with NDDs. Interestingly, a higher diagnostic yield was observed in females (31.3%, 40/128) compared to males (16.1%, 44/274) for all NDDs (P = 4.8 × 10−4), suggesting that a female protective mechanism exists for deleterious CNVs and UPDs.


2022 ◽  
Vol 12 ◽  
Author(s):  
Lin Zhang ◽  
Zhendong Zhu ◽  
Weian Du ◽  
Shengbin Li ◽  
Changhui Liu

Insertion/deletion (InDel) polymorphisms, as ideal forensic markers, show useful characteristics of both SNPs and STRs, such as low mutation rate, short amplicon size and general applicability of genotyping platform, and have been used in human identification, population genetics and biogeographic research in recent years. X-chromosome genetic markers are significant in population genetic studies and indispensable complements in some complex forensic cases. However, the population genetic studies of X-chromosome InDel polymorphisms (X-InDels) still need to be explored. In this study, the forensic utility of a novel panel including 38 X-InDel markers was evaluated in a sample of Han population from Henan province in China. It is observed that the heterozygosities ranged from 0.0054 to 0.6133, and the combined discrimination power was 1–9.18 × 10−17 for males and 1–7.22 × 10−12 for females respectively. The mean exclusion chance in trios and duos were 0.999999319 and 0.999802969 respectively. Multiple biostatistics methods, such as principal component analysis, genetic distances analysis, phylogenetic reconstruction, and structure analysis was used to reveal the genetic relationships among the studied Henan Han group and other 26 reference groups from 1,000 Genomes Project. As expected, the Henan Han population was clustered with East Asian populations, and the most intimate genetic relationships existed in three Han Chinese populations from Henan, Beijing and South China, and showed significant differences compared with other continental groups. These results confirmed the suitability of the 38 X-InDel markers both in individual identification and parentage testing in Han Chinese population, and simultaneously showed the potential application in population genetics.


2022 ◽  
Vol 13 (2) ◽  
pp. 517-526
Author(s):  
Xueling Lan ◽  
Ying Li ◽  
Yefeng Wu ◽  
Xia Li ◽  
Lan Xu

2021 ◽  
Vol 12 ◽  
Author(s):  
Ruixue Zhang ◽  
Lu Cao ◽  
Weiwei Chen ◽  
Huiyao Ge ◽  
Xia Hu ◽  
...  

Background: Leprosy is a chronic infectious skin and neurological disease, and genetic background is considered to be one of the major factors of risk. The major histocompatibility complex (MHC) region not only affects susceptibility to leprosy but also its development and outcome. Given the complex traits of the MHC region, variants and the potential mechanism by which HLA influences leprosy development need to be further explored.Methods: We extracted previous genome-wide association study data from the Northern Han Chinese population to perform HLA fine-mapping. Using the 1,000 Genome Project Phase 3 dataset as the reference panel, single-nucleotide polymorphisms (SNP), insertion and deletion (INDEL) and copy number variant (CNV) imputation were carried out. HLA classical alleles and amino acids in the MHC region were imputed using the HAN-MHC database. Further stepwise regression analysis was conducted to analyze independent signals of variants related to leprosy.Results: We identified four independent variants: esv3608598, rs7754498, rs3130781 and rs144388449. Among them, esv3608598 is a CNV and the first HLA CNV associated with leprosy risk. SNP annotation using RegulomeDB, HaploReg, and rVarBase showed that three SNPs are likely to affect the pathogenesis of leprosy.Conclusion: In summary, this is the first study to assess the association between HLA CNV and leprosy susceptibility in a Northern Han Chinese population. By fine mapping of the MHC region in this population, our findings provide evidence for the contribution of HLA to leprosy susceptibility.


Oral Diseases ◽  
2021 ◽  
Author(s):  
Sidi Zhang ◽  
Qianming Chen ◽  
Chao Yang ◽  
Jiayu Shi ◽  
Yansong Lin ◽  
...  
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