Functional polymorphisms of the neuropilin 1 gene are associated with the risk of tetralogy of Fallot in a Chinese Han population

Background: PPARγ and PPARα belong to a receptor family of ligand-activated transcription factors involved in the regulation of inflammation, cellular glucose uptake, protection against atherosclerosis and endothelial cell function. Through these effects, they might be involved with the ischemic stroke (IS). Methods: One thousand two hundred ninety-six subjects from the Chinese Han Population were chosen to assess the nature of the functional polymorphisms of PPARs and any links with IS. Multivariate logistic regression analysis was used to examine the association between PPARγ and PPARα genotypes and a diagnosis of IS. Results: Pro/Ala carriage may be associated with the decreased risk of IS in Hans (OR 0.542, 95% CI 0.346-0.850). The 162Val allele frequency at the DNA-binding region of PPARα was extremely rare in Chinese Han population. Conclusions: PPARγ 12Pro/Ala resulting in an amino acid exchange in N-terminal sequence may be an independent protective factor for IS in the Chinese Han population. However, more populations are warranted to validate our findings.

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Association between Functional Polymorphisms of Foxp3 Gene and the Occurrence of Unexplained Recurrent Spontaneous Abortion in a Chinese Han Population

Clinical and Developmental Immunology ◽

10.1155/2012/896458 ◽

2012 ◽

Vol 2012 ◽

pp. 1-7 ◽

Cited By ~ 35

Author(s):

Zaigui Wu ◽

Zeshan You ◽

Cai Zhang ◽

Zhuyu Li ◽

Xiumei Su ◽

...

Keyword(s):

Spontaneous Abortion ◽

Treg Cells ◽

Chinese Han Population ◽

Recurrent Spontaneous Abortion ◽

Regulatory Function ◽

Chinese Han ◽

Han Population ◽

Foxp3 Gene ◽

Functional Polymorphisms ◽

Unexplained Recurrent Spontaneous Abortion

Unexplained recurrent spontaneous abortion (URSA) is an alloimmune disease associated with the failure of fetal-maternal immunologic tolerance in which the regulatory T lymphocytes (Treg) play a pivotal role. It is well known that Forkhead box P3 (Foxp3) is a crucial regulatory factor for the development and function of Treg cells. It has also been established that deficiency of the Foxp3 gene suppresses the regulatory function of Treg cells. To determine if functional polymorphisms at the Foxp3 loci are associated with URSA in humans, we genotyped four common polymorphisms of Foxp3 gene in 146 unrelated URSA patients and 112 healthy women. The results showed that rs3761548A/C and rs2232365A/G polymorphisms were significantly associated with URSA. Additionally, we found that the allelic distribution of rs5902434 del/ATT in URSA group was slightly different from that in the control group. We conclude that functional polymorphisms of the Foxp3 gene may confer an important susceptibility to URSA in the Chinese Han population, probably by altering Foxp3 function and/or its expression.

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Identification of novel significant variants of ZFPM2/FOG2 in non-syndromic tetralogy of fallot and double outlet right ventricle in a Chinese Han population

Molecular Biology Reports ◽

10.1007/s11033-014-3126-5 ◽

2014 ◽

Vol 41 (4) ◽

pp. 2671-2677 ◽

Cited By ~ 8

Author(s):

Xiaomin Huang ◽

Wenquan Niu ◽

Zhen Zhang ◽

Chunxia Zhou ◽

Zhiwei Xu ◽

...

Keyword(s):

Right Ventricle ◽

Tetralogy Of Fallot ◽

Double Outlet Right Ventricle ◽

Chinese Han Population ◽

Chinese Han ◽

Han Population

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

Personalized Medicine ◽

10.2217/pme-2018-0154 ◽

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.

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