The Impact of ACE and ACE2 Gene Polymorphisms in Pulmonary Diseases Including COVID-19

Background: Molecular biology tools, such as the detection of single nucleotide polymorphisms (SNPs), have been considered to assist to the management of the ovarian stimulation protocols. Purpose: The aim of this study was to evaluate the impact of two polymorphisms, the Asn680Ser polymorphism of the FSHR gene, and the FSH β subunit (FSHβ) gene polymorphism -211 G>T, in a Greek population of women undergoing IVF/ICSI program in our center. In addition, a control group of fertile women was studied, to verify whether there are differences in the genotype distribution between fertile and infertile population for both polymorphisms, as the FSHβ gene polymorphism -211 G>T is studied for the first time in the Greek population. Results : The FSH β-211 G>T polymorphism, studied for the first time in the Greek infertile population, appears to be quite rare. When studying the two polymorphisms separately, statistically significant differences were obtained that concerned the LH levels. Discussion: According to the combination analysis of the two polymorphisms by the number of alleles, women with 2-3 polymorphic alleles needed more days of stimulation, but there were no differences in pregnancy rates. Conclusion: This molecular genetic study helps to elucidate whether the polygenic combination of the Asn680Ser and FSH β subunit -211 G>T gene polymorphisms is of additive value in the prediction of ovarian response to exogenous gonadotropins.

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The Impact of Genetics Profile (Gene Polymorphisms) in Obese Non- PCOS Women Entering an IVF/ICSI Program

Current Drug Targets ◽

10.2174/1389450111314080004 ◽

2013 ◽

Vol 14 (8) ◽

pp. 850-855 ◽

Cited By ~ 4

Author(s):

Elli Anagnostou ◽

Petros Drakakis ◽

Spyridon Marinopoulos ◽

Despina Mavrogianni ◽

Dimitrios Loutradis

Keyword(s):

Gene Polymorphisms ◽

The Impact

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Association between apolipoprotein gene polymorphisms and hyperlipidemia: a meta-analysis

BMC Genomic Data ◽

10.1186/s12863-021-00968-1 ◽

2021 ◽

Vol 22 (1) ◽

Author(s):

Xiao-Ning Zhao ◽

Quan Sun ◽

You-Qin Cao ◽

Xiao Ran ◽

Yu Cao

Keyword(s):

Risk Factor ◽

Cerebrovascular Disease ◽

Gene Polymorphisms ◽

Meta Analysis ◽

Control Group ◽

Case Group ◽

Healthy Controls ◽

Ε4 Allele ◽

Different Populations ◽

The Impact

Abstract Background Hyperlipidemia plays an important role in the etiology of cardio-cerebrovascular disease. Over recent years, a number of studies have explored the impact of apolipoprotein genetic polymorphisms in hyperlipidemia, but considerable differences and uncertainty have been found in their association with different populations from different regions. Results A total of 59 articles were included, containing in total 13,843 hyperlipidemia patients in the case group and 15,398 healthy controls in the control group. Meta-analysis of the data indicated that APOA5–1131 T > C, APOA1 -75 bp, APOB XbaI, and APOE gene polymorphisms were significantly associated with hyperlipidemia, with OR values of 1.996, 1.228, 1.444, and 1.710, respectively. All P-values were less than 0.05. Conclusions Meta-analysis of the data indicated that the C allele of APOA5 1131 T > C, the A allele at APOA1-75 bp, the APOB XbaI T allele, and the ε2 and ε4 allele of APOE were each a risk factor for susceptibility for hyperlipidemia.

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The impact of pulmonary diseases on the fate of inhaled medicines—A review

International Journal of Pharmaceutics ◽

10.1016/j.ijpharm.2013.11.042 ◽

2014 ◽

Vol 461 (1-2) ◽

pp. 112-128 ◽

Cited By ~ 30

Author(s):

Yi-Bo Wang ◽

Alan B. Watts ◽

Jay I. Peters ◽

Robert O. Williams

Keyword(s):

Pulmonary Diseases ◽

The Impact

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Effect of P450 Oxidoreductase Polymorphisms on the Metabolic Activities of Ten Cytochrome P450s Varied by Polymorphic CYP Genotypes in Human Liver Microsomes

Cellular Physiology and Biochemistry ◽

10.1159/000490934 ◽

2018 ◽

Vol 47 (4) ◽

pp. 1604-1616 ◽

Cited By ~ 8

Author(s):

Yan Fang ◽

Na Gao ◽

Xin Tian ◽

Jun Zhou ◽

Hai-Feng Zhang ◽

...

Keyword(s):

Gene Polymorphisms ◽

High Performance ◽

Liver Microsomes ◽

Nucleotide Polymorphisms ◽

Liquid Chromatograph ◽

Single Nucleotide ◽

P450 Oxidoreductase ◽

Human Livers ◽

Metabolic Activities ◽

The Impact

Background/ Aims: Little is known about the effect of P450 oxidoreductase (POR) gene polymorphisms on the activities of CYPs with multiple genotypes. Methods: We genotyped 102 human livers for 18 known POR single nucleotide polymorphisms (SNPs) with allelic frequencies greater than 1% as well as for 27 known SNPs in 10 CYPs. CYP enzyme activities in microsomes prepared from these livers were determined by measuring probe substrate metabolism by high performance liquid chromatograph. Results: We found that the effects of the 18 POR SNPs on 10 CYP activities were CYP genotype-dependent. The POR mutations were significantly associated with decreased overall Km for CYP2B6 and 2E1, and specific genotypes within CYP1A2, 2A6, 2B6, 2C8, 2D6 and 2E1 were identified as being affected by these POR SNPs. Notably, the effect of a specific POR mutation on the activity of a CYP genotype could not be predicted from other CYP genotypes of even the same CYP. When combining one POR SNP with other POR SNPs, a hitherto unrecognized effect of multiple-site POR gene polymorphisms (MSGP) on CYP activity was uncovered, which was not necessarily consistent with the effect of either single POR SNP. Conclusions: The effects of POR SNPs on CYP activities were not only CYP-dependent, but more importantly, CYP genotype-dependent. Moreover, the effect of a POR SNP alone and in combination with other POR SNPs (MSGP) was not always consistent, nor predictable. Understanding the impact of POR gene polymorphisms on drug metabolism necessitates knowing the complete SNP complement of POR and the genotype of the relevant CYPs.

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Prediction of sepsis-related outcomes in neonates through systematic genotyping of polymorphisms in genes for innate immunity and inflammation: a narrative review and critical perspective

Sao Paulo Medical Journal ◽

10.1590/1516-3180.2013.1315519 ◽

2013 ◽

Vol 131 (5) ◽

pp. 338-350 ◽

Cited By ~ 9

Author(s):

Juliana Kilesse Carvalho ◽

Daniella Batalha Moore ◽

Ricardo Alves Luz ◽

Pedro Paulo Xavier-Elsas ◽

Maria Ignez Capella Gaspar-Elsas

Keyword(s):

Innate Immunity ◽

Gene Polymorphisms ◽

Large Scale ◽

Scientific Evidence ◽

Cochrane Library ◽

Increased Risk ◽

Immunity Genes ◽

Hemostatic Factors ◽

Narrative Literature Review ◽

The Impact

CONTEXT AND OBJECTIVE: Neonatal sepsis is associated with premature birth and maternal infection. Large-scale studies seek to define markers that identify neonates at risk of developing sepsis. Here, we examine whether the scientific evidence supports systematic use of polymorphism genotyping in cytokine and innate immunity genes, to identify neonates at increased risk of sepsis. DESIGN AND SETTING: Narrative literature review conducted at Fernandes Figueira Institute, Brazil. METHODS: The literature was searched in PubMed, Embase (Excerpta Medica Database), Lilacs (Literatura Latino-Americana e do Caribe em Ciências da Saúde), SciELO (Scientific Electronic Library Online) and Cochrane Library. From > 400,000 references, 548 were retrieved based on inclusion/exclusion criteria; 22 were selected for detailed analysis after quality assessment. RESULTS: The studies retrieved addressed the impact of gene polymorphisms relating to immune mechanisms (most often TNF-a, LT-a, IL-6, IL-1β, IL-1ra, L-selectin, CD14 and MBL) or inflammatory mechanisms (ACE and angiotensin II receptors; secretory PLA2; and hemostatic factors). Despite initial reports suggesting positive associations between specific polymorphisms and increased risk of sepsis, the accumulated evidence has not confirmed that any of them have predictive power to justify systematic genotyping. CONCLUSIONS: Sepsis prediction through systematic genotyping needs to be reevaluated, based on studies that demonstrate the functional impact of gene polymorphisms and epidemiological differences among ethnically distinct populations.

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