Evaluation of the association between dilated cardiomyopathy and single nucleotide polymorphisms of the lamin A/C gene in the Iranian population

Background: Variations in the viral receptor human angiotensin-converting enzyme 2 (ACE2) may specify the susceptibility of a certain population to severe acute respiratory syndrome coronavirus 2. Objective: Evaluation of the affinity of severe acute respiratory syndrome coronavirus 2 spike glycoprotein to the Iranian genetic variants of ACE2. Materials & methods: Single nucleotide polymorphisms of ACE2 among the Iranian population were collected from the Iranome database. Missense mutations in the N-terminal peptidase domain were selected for in silico analysis. Results: 17 missense single nucleotide polymorphisms were found at ACE2. Viral glycoprotein had the lowest affinity to ACE2 mutant V485L. Discussion: The V485L variant of ACE2 could be a natural resistance mutation among the Iranian population. In addition, variant S331F can increase slightly the susceptibility to infection with the virus.

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Investigation of the association of G-7A and T-138C single nucleotide polymorphisms on the promoter of MGP gene with renal stone

Journal of Nephropharmacology ◽

10.15171/npj.2018.29 ◽

2018 ◽

Vol 7 (2) ◽

pp. 145-148

Author(s):

Mohammad Keramatipour ◽

Babak Ahadi ◽

Mohsen Taghizadeh ◽

Ali Tabibi ◽

Farshad Zohrabi ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Renal Stone ◽

Stone Formation ◽

Financial Burden ◽

Iranian Population ◽

Matrix Gla Protein ◽

Arterial Calcification ◽

Ectopic Calcification ◽

Nucleotide Polymorphisms ◽

Single Nucleotide

Introduction: Renal stones, due to their heavy costs of diagnosis and treatment, have a considerable financial burden on health system. Family history and genetic susceptibility are important factors in stone formation. Matrix Gla-protein (MGP) is a gene that has a known role in inhibition of arterial calcification. It is thought that MGP may be involved in pathogenesis of calcium nephrolithiasis as an ectopic calcification. Objectives: This study aims to demonstrate association of G-7A and T-138C single nucleotide polymorphisms (SNPs) of this gene with kidney calcium stone in Iranian population. Patients and Methods: Seventy-nine patients with renal stone who underwent PCNL or open surgery were enrolled. Blood samples from each patient and his/her parents were taken and DNA extraction was done using salting out and phenol-chloroform extraction protocols. Genotypes for the MGP T-138C and G-7A polymorphism were determined by PCR-sequencing methods. Statistical analysis and transmission disequilibrium test were done by SPSS software. Results: Total of 235 DNAs were extracted. The most frequent nucleotide is G (67%) in G-7A SNP and T (69%) in T-138C SNP. The CA haplotype was not seen in observed population and other haplotypes had same frequencies. No over transmission of alleles in two SNPs and no association of MGP Polymorphisms and nephrolithiasis were observed. Conclusion: This study is the first family based investigation in Iranian population, which shows, no specific pattern of transmission and no effect of inherited SNPs on stone formation.

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