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

2012 ◽  
Vol 68 (2) ◽  
pp. 89-92 ◽  
Author(s):  
Wei Song ◽  
Yong Ping Chen ◽  
Rui Huang ◽  
Ke Chen ◽  
Ping Lei Pan ◽  
...  

2018 ◽  
Vol 37 (2) ◽  
pp. 89-94 ◽  
Author(s):  
Liang Xie ◽  
Ying Deng ◽  
Yumei Yuan ◽  
Xiong Tan ◽  
Lijun Liu ◽  
...  

Oral Diseases ◽  
2020 ◽  
Author(s):  
Bin Yin ◽  
Jia‐Yu Shi ◽  
Yan‐Song Lin ◽  
Bing Shi ◽  
Zhong‐Lin Jia

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

2018 ◽  
Vol 17 (1) ◽  
Author(s):  
Hong Li ◽  
Shasha Yu ◽  
Rui Wang ◽  
Zhaoqing Sun ◽  
Xinghu Zhou ◽  
...  

2021 ◽  
Author(s):  
Li-Jie Chen ◽  
Jing Guo ◽  
Song-xia Zhang ◽  
Ying Xu ◽  
Qing Zhao ◽  
...  

Abstract Background Non-alcoholic fatty liver disease (NAFLD) is a multifactorial condition associated with aging, insulin resistance, metabolic syndrome, genetic factors and more. Although genetic traits are among the most important risks factors for NAFLD, the understanding of their influence is still quite limited. The present study aimed at identifying novel SNPs that may confer a risk for NAFLD in the Han Chinese population. Methods Based on the "two-hit hypothesis", candidate SNPs, including Sirtuin3 rs28365927, were genotyped by MassARRAY in B-type ultrasonography-proven NAFLD patients (n = 292) and healthy controls (n = 387). Results In a model analysis of individuals matched based on gender and age that compared 223 NAFLD and 223 non-NAFLD patients, the rs28365927 GA + AA genotype was a significant risk factor for the development of NAFLD in a dominant model. Rs28365927 was significantly associated with a higher NAFLD risk in both an additive model (A vs G) and genotypic model (GA vs GG). Among the NAFLD patients, serum levels of total bilirubin (TBIL), DBIL direct bilirubin (DBIL) and glutamic-pyruvic transaminase (ALT) in rs28365927 A allele carriers (GA + AA) were 11.1%, 14.7% and 41.5% higher, respectively, than in non-carriers (GG). Furthermore, among the NAFLD patients, the carriers of Rs28365927 allele A were positively correlated with higher ALT levels. Conclusion Sirtuin3 rs28365927 is an independent risk factor for NAFLD in the Han Chinese population.


2021 ◽  
pp. 105566562110528
Author(s):  
Bin Yin ◽  
Jia-Yu Shi ◽  
Bing Shi ◽  
Qian Zheng ◽  
Zhong-Lin Jia

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.


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