BackgroundIntervertebral disc degeneration (DD) is an important cause of low back pain and its precise aetiology is not fully understood, being attributed to cumulative environmental, biomechanical and genetic effects. The vitamin D plays a key role in regulation of calcium homeostasis and bone mineralization, exerting its biological activities by binding to a high-affinity receptor (VDR). Polymorphisms in VDR gene were previously associated with DD process, however with conflicting results. Here, we aimed to investigate the influence of lifestyle characteristics and VDR TaqI, BsmI, ApaI and FokI polymorphisms as risk factors for DD process.MethodsRetrospective case–control study involving 231 participants: 119 with confirmed DD and 112 healthy controls. Genotyping of VDR polymorphisms was performed by PCR–RFLP and real-time PCR using TaqMan methodology. All patients answered a questionnaire regarding lifestyle characteristics, such as educational level, pain localization, smoking habits, engagement of physical activity, postural and load weight at work and familial history of disc degeneration. The variables were compared between groups and adjusted by age and gender.ResultsThe case group was composed by 52% female and 48% male and the mean age was 40.0 years old, while in the control group 79% was female and 21% male and the mean age was 32.0 years old. Although gender distribution and mean age were different between groups, in the control group all participants were less than 45 years old and there was a prevalence of women in both groups. The factors that could be possibly associated to DD in the Brazilian population studied included smoking habits (26% in cases and 9% in controls, p = 0.003), lack of engagement in physical activity (observed in 77% of cases and 62% of controls, p = 0.018), and loading weight during work routine (58% in cases and 24% in controls, p ≤ 0.001). However, after adjusting by age and gender, only smoking habits remained associated to disc degeneration (p = 0.027). Considering the educational level, 35.2% of cases and 15.6% of controls had only the Elementary School, and 5.5% of DD group and 28.6% of control group had completed College (p = 0.025). In addition, educational level was directly associated to load weight at work (p = 0.012). Regarding VDR polymorphisms, no significant difference in genotype and allele frequencies between groups was observed. The haplotype analysis revealed that the combined wild-type alleles of TaqI, ApaI and FokI polymorphisms—TGT—was observed in a higher frequency in control group (p = 0.039).ConclusionThe findings suggested that smoking habits was a risk factor for disc degeneration in the population studied. Single analysis revealed no significant effects of VDR polymorphisms in disc degeneration process, while the combination of wild-type alleles of TaqI, ApaI and FokI polymorphisms, TGT haplotype, decreased the risk of the disease.
The results showed a positive association between VDR FokI/T2C polymorphism and DD in Brazilian patients tested.
The aim of this study was to investigate the association between MTHFR gene polymorphisms and IVF outcomes in Brazilian women undergoing assisted reproduction treatment. A prospective study was conducted in the Human Reproduction Department at the ABC University School of Medicine and the Ideia Fertility Institute between December 2010 and April 2012. The patient population was 82 women undergoing assisted reproduction cycles. The MTHFR polymorphisms C677T and A1298C were evaluated and compared with laboratory results and pregnancy rates. The C677T variant was associated with proportions of mature (P=0.006) and immature (P=0.003) oocytes whereas the A1298C variant was associated with number of oocytes retrieved (P=0.044). The polymorphisms, whether alone or in combination, were not associated with normal fertilization, good-quality embryo or clinical pregnancy rates. This study suggests that the number and maturity of oocytes retrieved may be related to the MTHFR polymorphisms C677T and A1298C. It is believed that folate has a crucial function in human reproduction and that folate deficiency can compromise the function of the metabolic pathways it is involved in, leading to an accumulation of homocysteine. The gene MTHFR encodes the 5-MTHFR enzyme, which is involved in folate metabolism, and C677T/A1298C polymorphisms of this gene are related to decreased enzyme activity and consequent changes in homocysteine concentration. Folate deficiency and hyperhomocysteinaemia can also compromise fertility and lead to pregnancy complications by affecting the development of oocytes, preparation of endometrial receptivity, implantation of the embryo and pregnancy. In folliculogenesis, hyperhomocysteinaemia can activate apoptosis, leading to follicular atresia and affecting the maturity of oocytes and the quality of embryos cultured in vitro. This study was performed to investigate the association between MTHFR polymorphisms and IVF outcomes in women undergoing assisted reproduction treatment.
In Brazilian population evaluated results have demonstrated that the genetic variation in ESR1 gene (PvuII polymorphism) is associated to POF risk.
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