UNASSIGNED: Intervertebral disc degeneration (IDD) is a musculoskeletal disorder and one of the major causes of low back pain leading to the disability with high economic repercussions worldwide. This study applied the candidategene approach to investigate the potential association of selected polymorphisms with IDD development in a Jordanian population.
UNASSIGNED: MRI-diagnosed IDD patients (N=155) and asymptomatic individuals as a control group (N=55). Whole blood samples for four variants in three genes (rs1800587 of IL-1α, rs1143634 of IL-1β and rs2228570 and rs731236 of VDR) were genotyped by PCR-RFLP.
UNASSIGNED: There was no significant association between the studied polymorphisms or their allelic frequency and the occurrence of IDD. However, the cohort presented a significant reverse association between rs1143634 C > T of the IL-1β gene and the occurrence of IDD (p<0.0001). In addition, BMI showed a significant association with the IDD in the study population (p<0.005). The current study was conceptualized based on the candidate-gene approach to investigate the role of inflammatory and metabolic genes, IL and VDR, respectively, in the occurrence of IDD.
UNASSIGNED: While the data presented in this study showed that polymorphisms in these genes were not associated with IDD of the cohort investigated, elevated BMI, as a measure of obesity, is strongly associated with IDD. Investigating potential roles of other structural genes, such as col-IX and aggrecan (ACAN), in IDD and considering a GWAS to elucidate a genomically global look at the basis of IDD development would be of considerable impact on our understanding of IDD.
UNASSIGNED: Degeneracija intervertebralnog diska (IDD) je mišićno-koštani poremećaj i jedan od glavnih uzroka bolova u donjem delu leđa koji vodi do invaliditeta i ima velike ekonomske posledice širom sveta. U ovom istraživanju korišćen je pristup određivanja gena kandidata kako bi se istražila potencijalna povezanost odabranih polimorfizama sa razvojem IDD-a u jordanskoj populaciji.
UNASSIGNED: IDD pacijenti dijagnostikovani putem magnetne rezonantne tomografije (MRI) (N=155) i asimptomatski pojedinci kao kontrolna grupa (N=55). Određen je genotip celokupnih uzoraka krvi za četiri varijante u tri gena (rs1800587 u IL-1α, rs1143634 u IL-1β i rs2228570 i rs731236 u VDR) pomoću PCR-RFLP.
UNASSIGNED: Nije bilo značajne povezanosti između proučavanih polimorfizama ili njihove učestalosti alela i pojave IDD-a. Međutim, kohorta je pokazala značajnu obrnutu povezanost između rs1143634 C>T koji pripada genu IL-1β, i pojave IDD-a (p<0,0001). Pored toga, BMI je pokazao značajnu povezanost sa IDD-om u ispitivanoj populaciji (p<0,005). Trenutno istraživanje je koncipirano na osnovu pristupa određivanja gena kandidata kako bi se istražila uloga upalnih (IL) i metaboličkih (VDR) gena pri pojavi IDD-a.
UNASSIGNED: Dok su podaci predstavljeni u ovom istraživanju pokazali da polimorfizmi u ovim genima nisu povezani sa IDD-om kohorte koja je istra`ivana, povišen BMI, kao mera gojaznosti, snažno je povezan sa IDD-om. Ispitivanje potencijalnih uloga drugih strukturalnih gena, poput col-IX i agrekana (ACAN) u IDD-u, i razmatranje GWAS-a za razjašnjenje genomski globalnog pogleda na osnovu razvoja IDD-a, imalo bi značajan uticaj na naše razumevanje IDD-a.

This study aimed to investigate the association of IL-1RA VNTR and IL-1α 4845G>T polymorphisms with idiopathic male infertility followed by an in silico analysis. In a case-control study, we collected blood samples from 230 infertile and 230 healthy men. Genotyping of IL-1RA VNTR was performed by PCR whereas IL-1α 4845G>T was genotyped by polymerase chain reaction-restriction fragment length polymorphism. An in silico approach was employed for the detection of IL-1RA VNTR and IL-1α 4845G>T effects on some molecular aspects of IL-1RA and IL-1α respectively. The result of our genetic association study for IL-1α 4845G>T revealed that there was a significant association between GT genotype, TT genotype, T allele and idiopathic male infertility. Although there was no significant association between IL-1RA VNTR and male infertility in the overall analysis. However, subgroup analysis revealed that the subjects with VNTR 4R/5R genotype were at a higher risk of oligozoospermia. Furthermore, 4845TT genotype, and 4845T allele were associated with oligozoospermia, asthenozoospermia and nonobstructive azoospermia. Bioinformatics analysis showed that IL-1RA VNTR may affect the splicing pattern of IL-1RA. Moreover, IL-1α 4845G>T has a significant effect on RNA structure and protein function. Based on our findings, both IL-1RA VNTR and IL-1α 4845G>T polymorphisms could be considered as potential biomarkers for screening of susceptible individuals.