Distribution of HLA class Ⅰ and class Ⅱ haplotypes in Chinese Han population based on family segregation

2021 ◽  
Vol 5 (1) ◽  
pp. 21-28
Author(s):  
Wang Lijun ◽  
Li Wei ◽  
Wang Dongmei ◽  
Liu Na ◽  
Jia Yanjun
2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Lin Wang ◽  
Lin Guo ◽  
Fengde Tian ◽  
Ruihu Hao ◽  
Tiejun Yang

Objective. Osteoarthritis (OA) is a complex arthritic condition in which the genetic factor plays a major role. One of the candidate genes of is the ADAM12 gene, but no consistency has been reached till now. This study aims to investigate the potential role of four single nucleotide polymorphisms (SNPs) of the ADAM12 gene in susceptibility to knee OA and its progression in Chinese Han population.Methods. The rs1278279, rs3740199, rs1044122, and rs1871054 polymorphisms were genotyped and compared in a population based cohort consisting of 164 OA subjects and 200 age- and gender-matched controls.Results. The SNP rs1871054 was found with increased risk of OA susceptibility in comparing the genotype frequencies between the case and control groups no matter for which model of comparison (allele level, dominant model, recessive model, and extreme genotype model). Additionally, the SNP rs1871054 was found associated with increased OA severity according to the K/L grade.Conclusion. In summary, we have identified that the rs1871054 variant within the ADAM12 gene is a risk factor for increased osteoarthritis susceptibility and severity.


2016 ◽  
Vol 57 (4) ◽  
pp. 223-231 ◽  
Author(s):  
Fei Xiao ◽  
Ying Du ◽  
Ziquan Lv ◽  
Shanghai Chen ◽  
Jianmin Zhu ◽  
...  

Eight amino acids are considered essential for human nutrition, and three of them, including leucine, isoleucine and valine, are called as branched-chain amino acids (BCAAs). We recently discovered that dietary deficiency of any BCAA for 7 days rapidly reduces the abdominal fat mass in mice. The goal of this study was to investigate (1) whether dietary deficiency of the other five essential amino acids (EAAs), including phenylalanine, threonine, tryptophan, methionine and lysine, would produce similar effects and (2) whether an association between serum AAs and obesity was observed in humans in Chinese Han population. Similar to BCAAs deprivation, dietary deficiency of any of these five EAAs for 7 days significantly reduced abdominal fat mass, which is likely caused by increased energy expenditure. Expression of genes and proteins related to lipolysis, however, were differentially regulated by different EAAs. These results suggest a crucial role of EAAs deprivation on lipid metabolism in mice. Our human studies revealed that levels of four EAAs (leucine, isoleucine, valine and phenylalanine) were elevated in obese humans compared with those in lean controls in Chinese Han population. Based on the results obtained from mice, we speculate that these four EAAs might play important roles in human obesity.


PLoS ONE ◽  
2017 ◽  
Vol 12 (2) ◽  
pp. e0168871 ◽  
Author(s):  
Chuiwen Deng ◽  
Shulan Zhang ◽  
Chaojun Hu ◽  
Ping Li ◽  
Ziyan Wu ◽  
...  

2006 ◽  
Vol 365 (1-2) ◽  
pp. 98-103 ◽  
Author(s):  
Ying Zhang ◽  
Fang Zheng ◽  
Hansong Du ◽  
Joan C. Krepinsky ◽  
Julien A.G. Segbo ◽  
...  

2021 ◽  
Author(s):  
Liucui Chen ◽  
Huaxin Li ◽  
Haijun Yuan ◽  
Wei Gao ◽  
Feng Liu ◽  
...  

Abstract A limited number of genome-wide association studies (GWAS) have shown that CACNA1C is a potential candidate gene for insomnia. The present study sought to investigate the association of CACNA1C gene polymorphisms and insomnia in a Chinese Han population. Twenty-one single nucleotide polymorphisms (SNPs) in the CACNA1C were genotyped by using matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF MS) with a Sequenom MassARRAY system in 205 patients with insomnia and 154 healthy controls. Data from all participants were systematically collected. Association of the polymorphisms with insomnia was evaluated by statistical analysis. Linkage disequilibrium (LD) and haplotype analysis were performed with Haploview v4.2 software. After adjustment for multiple comparisons and gender, age, body mass index (BMI), hypertension and glycated hemoglobin (HbA1c), only the rs2302729 in the recessive model (adjusted odds ratio [AOR]= 0.414, 95%CI= 0.220-0.771, P= 0.004) related to insomnia achieved significance by the false discovery rate (FDR) Benjamini and Hochberg (BH) criterion. The haplotypes rs2302729-rs1051375, CA and TG were significantly associated with insomnia (P<0.05). Our findings contributed important evidence for the confirming of CACNA1C as a susceptibility gene for insomnia in the samples of Chinese Han population.


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