Association between functional polymorphisms in the promoter of the miR-143/145 cluster and risk of conotruncal heart defects

2019 ◽  
Vol 16 (6) ◽  
pp. 449-455
Author(s):  
Heling Wen ◽  
Rui Zhang ◽  
Yajiao Li ◽  
Hong Qian ◽  
Zhiguo Yan ◽  
...  
Keyword(s):  
Chinese Population ◽  
Heart Defects ◽  
Chinese Han Population ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population ◽  
Functional Polymorphisms ◽  
Conotruncal Heart Defects ◽  
Pcr Rflp

Aim: Conotruncal heart defects (CTDs) are the most common form of congenital heart disease. We investigated the association of these two single-nucleotide polymorphisms (SNPs) in the promoter of miR-143/145 (rs353292 and rs4705343) with the susceptibility to CTDs in a Chinese population. Materials & methods: Two SNPs in the promoter of miR-143/145 (rs353292 and rs4705343) have been examined by PCR-RFLP methodology for 259 CTDs patients and 303 control subjects. Results: An association between SNP rs4705343 of miR-143/145 and CTDs has been confirmed in the Chinese Han population. Conclusion: Our results indicated that SNP rs4705343 in miR-143/145 is a potential genetic marker for CTDs in the Chinese Han population.

scholarly journals IL-1R2 Polymorphisms and its Interaction Associates With Osteoporosis Susceptibility in Chinese Han Population

2020 ◽  
Author(s):  
Kai Rong ◽  
Zhiquan Liang ◽  
Wenyuan Xiang ◽  
Zhan Wang ◽  
Fengli Wen ◽  
...  
Keyword(s):  
Negative Regulator ◽  
Chinese Han Population ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population ◽  
Testing Accuracy ◽  
Relationship Of ◽  
The Relationship ◽  
Osteoporosis Risk

Abstract Background: IL-1R2, serves as a negative regulator of IL-1 signaling, is involved in the pathogenesis of osteoporosis. This study aimed to determine the correlation between IL-1R2 polymorphism and osteoporosis susceptibility among the Chinese Han population.Methods: We recruited 594 osteoporosis patients and 599 healthy controls. Six single nucleotide polymorphisms (SNPs) in IL-1R2 were selected for genotyping using Agena MassARRAY platform. Odds ratio (OR) and 95% confidence interval (CI) was calculated through logistic regression analysis with adjustment for age and sex. Linkage disequilibrium analysis was plotted by Haploview v4.2. Multifactor dimension reduction (MDR) was performed to estimate the SNP-SNP interaction of IL-1R2 variants.Results: Our result revealed that rs11674595 (OR = 1.86, p = 0.020), rs2072472 (OR = 1.26, p = 0.019) and rs4851527 (OR = 0.78, p = 0.007) were related to the risk of osteoporosis. Moreover, the contribution of IL-1R2 polymorphisms to osteoporosis risk presented age, sex and BMI difference. We found the relationship of Trs11674595Ars4851527 (OR = 0.80, p = 0.015), Crs11674595Grs4851527 (OR = 1.22, p = 0.043) and Ars3218977Grs2072472 (OR = 1.25, p = 0.022) haplotypes to osteoporosis occurrence, and a potential accumulated effect of IL-1R2 SNPs (testing accuracy = 0.5783 and CVC = 10/10) on osteoporosis susceptibility.Conclusion: IL-1R2 polymorphisms (rs11674595, rs4851527, rs2072472 and rs3218977) might contribute to osteoporosis risk among the Chinese Han population. Our finding may increase our understanding of the effects of IL-1R2 polymorphisms on the predisposition of osteoporosis.

Sign in / Sign up

Export Citation Format

Share Document