background: the serum concentration of high-density lipoprotein cholesterol (hdl-c) is one of the important heritable risk factors for cardiovascular disease and is a target for therapeutic intervention. in this study, we aimed to evaluate the effects of lecithin cholesterol acyltransferase (lcat) gene polymorphism rs5923 on lcat enzyme activity and serum hdl-c concentration. methods: the study...

background: half of the cases of vision loss in people under 60 years of age have been attributed to age-related macular degeneration (amd). this is a multifactorial disease with late onset. it has been demonstrated that many different genetic loci are implicated in the risk of developing amd in different populations. in the current study, we investigated the association of high-temperature ‎re...

background: cytokines and specially interferon-gamma (ifn-g) are largely responsible for the regulation of the protective im­mune response against mycobacterial infections. several studies have clarified the importance of common variants of ifn- g gene regarding the susceptibility to tuberculosis. bacille calmette-guérin (bcg) vaccine that is used to prevent se­vere forms of tuberculosis could ...

objective: to investigate the association of c631t single nucleotide polymorphisms in spo11 gene with male infertilityfollowed by an in silico approach. spo11 is a gene involved in meiosis and spermatogenesis process, which in humans, this gene is located on chromosome 20 (20q13.2-13.3) with 13 exons. materials and methods: in a case-control study, 200 blood samples were collected from the ivf ...

background: molecular components of the dopamine receptor (drd3) play an important role in the pathophysiology of schizophrenia (scz). previous studies have demonstrated an association between the drd3 ser9gly polymorphism and scz but the results have been inconclusive. method: in this study, we investigated this controversial association between the ser9gly (a/g) polymorphism and scz using mal...

there are several known and unknown factors for unexplained recurrent spontaneous abortion (ursa). among them, complement regulatory protein cd46 plays a pivotal role in preventing uncontrolled activation of complement and successful continuation of pregnancy. we aimed in this study to investigate the possible association of cd46 ivs1-1724 c>g polymorphism with rsa in iranian women. 141 women w...

results the allele and genotype distributions of pnpla3 rs738409 and rs2281135 were not significantly different between the chb and lc groups. after segregation on the basis of sex, no significant correlation between pnpla3 (rs738409 and rs2281135) genotypes/alleles and liver cirrhosis was detected. moreover, none of the haplotypes in pnpla3 (rs738409 and rs2281135) was found to be statisticall...

background genome-wide association studies have shown that rs738491, rs2143571, and rs3761472 in the sorting and assembly machinery component 50 homolog (samm50) gene are significantly associated with susceptibility to nonalcoholic fatty liver disease (nafld). conclusions we first demonstrated that the rs738491 t allele, rs2143571 a allele, and rs3761472 g allele in the samm50 gene created susc...

background coronary artery disease (cad) is the most common cause of death worldwide. mef2a directly regulates target genes in the process of muscle development. this gene product is a transcription factor. mef2a protein in homodimer or heterodimer forms binds to a/t-rich cis elements with conserved sequence in promoter, regulator, and enhancer of many genes, which are determining in evolution ...

the snp (rs11209026, arg381gln, r381q) in the il-23 receptor (il23r) confers protection against multiple inflammatory diseases, representing one of the most significant human genetic polymorphisms in inflammatory diseases. we, therefore, investigated the association between il-23 r r381q gene polymorphism and asthma.this case-control study was performed on 209 patients, and 200 healthy controls...