Classic PCOS phenotype is not associated with deficiency of endogenous vitamin D and VDR gene polymorphisms rs731236 (TaqI), rs7975232 (ApaI), rs1544410 (BsmI), rs10735810 (FokI): a case–control study of lower Silesian women

Jędrzejuk, Diana; Łaczmański, Łukasz; Milewicz, Andrzej; Kuliczkowska-Płaksej, Justyna; Lenarcik-Kabza, Agnieszka; Hirnle, Lidia; Zaleska-Dorobisz, Urszula; Lwow, Felicja

doi:10.3109/09513590.2015.1062865

Cited by 28 publications

(25 citation statements)

References 30 publications

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“…It is worth noting that all the VDR genotypes were related to declined NSCLC risk. An increased risk comparing TT vs. CC in Taq1 in our study is consistent with the results observed in previous studies [50,51,52]. On the other hand, there are a few other studies that have also found no association with increased risk [53,54].…”

Section: Discussionsupporting

confidence: 93%

Vitamin D-Related Gene Polymorphisms, Plasma 25-Hydroxy-Vitamin D, Cigarette Smoke and Non-Small Cell Lung Cancer (NSCLC) Risk

Cheng

Yang

2016

IJMS

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Epidemiological studies regarding the relationship between vitamin D, genetic polymorphisms in the vitamin D metabolism, cigarette smoke and non-small cell lung cancer (NSCLC) risk have not been investigated comprehensively. To search for additional evidence, the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique and radioimmunoassay method were utilized to evaluate 5 single-nucleotide polymorphisms (SNPs) in vitamin D receptor (VDR), 6 SNPs in 24-hydroxylase (CYP24A1), 2 SNPs in 1α-hydroxylase (CYP27B1) and 2 SNPs in vitamin D-binding protein (group-specific component, GC) and plasma vitamin D levels in 426 NSCLC cases and 445 controls from China. Exposure to cigarette smoke was ascertained through questionnaire information. Multivariable linear regressions and mixed effects models were used in statistical analysis. The results showed that Reference SNP rs6068816 in CYP24A1, rs1544410 and rs731236 in VDR and rs7041 in GC were statistically significant in relation to reduction in NSCLC risk (p < 0.001–0.05). No significant connection was seen between NSCLC risk and overall plasma 25-hydroxyvitamin D [25(OH)D] concentrations, regardless of smoking status. However, the mutation genotype of CYP24A1 rs6068816 and VDR rs1544410 were also significantly associated with increased 25(OH)D levels only in both the smoker and non-smoker cases (p < 0.01–0.05). Meanwhile, smokers and non-smokers with mutated homozygous rs2181874 in CYP24A1 had significantly increased NSCLC risk (odds ratio (OR) = 2.14, 95% confidence interval (CI) 1.47–3.43; p = 0.031; OR = 3.57, 95% CI 2.66–4.74; p = 0.019, respectively). Smokers with mutated homozygous rs10735810 in VDR had significantly increased NSCLC risk (OR = 1.93, 95% CI 1.41–2.76; p = 0.015). However, smokers with mutated homozygous rs6068816 in CYP24A1 had significantly decreased NSCLC risk (OR = 0.43, 95% CI 0.27–1.02; p = 0.006); and smokers and non-smokers with mutated homozygous rs1544410 in VDR had significantly decreased NSCLC risk (OR = 0.51, 95% CI 0.34–1.17; p = 0.002; OR = 0.26, 95% CI 0.20–0.69; p = 0.001, respectively). There are significant joint effects between smoking and CYP24A1 rs2181874, CYP24A1 rs6068816, VDR rs10735810, and VDR rs1544410 (p < 0.01–0.05). Smokers with mutated homozygous rs10735810 in VDR had significantly increased NSCLC risk (OR = 1.93, 95% CI 1.41–2.76; p = 0.015). In summary, the results suggested that the lower the distribution of vitamin D concentration, the more the genetic variations in CYP24A1, VDR and GC genes may be associated with NSCLC risk. In addition, there are significant joint associations of cigarette smoking and vitamin D deficiency on NSCLC risk.

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Section: Discussionsupporting

confidence: 93%

Vitamin D-Related Gene Polymorphisms, Plasma 25-Hydroxy-Vitamin D, Cigarette Smoke and Non-Small Cell Lung Cancer (NSCLC) Risk

Cheng

Yang

2016

IJMS

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“…) and changes in this protein quantity could affect the insulin secretor capacity . Therefore, several studies relating these polymorphisms with the PCOS phenotype have been conducted (Tables ) …”

Section: Vitamin D Receptor Polymorphisms In Pcosmentioning

confidence: 99%

“…Jedrzejuk et al . coordinated the most recent study . FokI, BsmI, ApaI, and TaqI polymorphisms were analyzed in a lower Silesian population, aged 20–35 years, who were divided into two groups: classic PCOS ( n = 92) and healthy ( n = 85).…”

Section: Vitamin D Receptor Polymorphisms In Pcosmentioning

confidence: 99%

“…42 Therefore, several studies relating these polymorphisms with the PCOS phenotype have been conducted (Tables 1, 2). [43][44][45][46][47][48][49][50][51][52][53] Mahmoudi et al (2009) 43 analyzed the frequency of FokI (rs10735810 or rs2228570, A/C/G/T), BsmI (rs1544410, A/G), ApaI (rs7975232, A/C), and TaqI (rs731236, C/T) VDR polymorphisms through polymerase chain reactionrestriction fragment length polymorphism (PCR-RFLP) in healthy and PCOS women from Iran (diagnosis based on the NIH-NICHD criteria), aiming to investigate if there was any association between those polymorphisms and PCOS. They also investigated the effect of these polymorphisms on IR in affected women.…”

Section: Vitamin D Receptor Polymorphisms In Pcosmentioning

confidence: 99%

“…52 Jedrzejuk et al coordinated the most recent study. 53 FokI, BsmI, ApaI, and TaqI polymorphisms were analyzed in a lower Silesian population, aged 20-35 years, who were divided into two groups: classic PCOS (n = 92) and healthy (n = 85). There was no variation between genotypic frequency in the two groups, while biochemical and anthropometric parameters showed higher waist circumference, android-togynoid-fat-deposit ratio, HOMA-IR, higher levels for total cholesterol, low-density lipoprotein cholesterol (LDLc), triglycerides, insulin, glucose, testosterone, and free androgen index and lower levels for SHBG and high-density lipoprotein cholesterol (HDLc) in the classic PCOS group compared with healthy patients.…”

Section: Vitamin D Receptor Polymorphisms In Pcosmentioning

confidence: 99%

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Vitamin D receptor polymorphisms and the polycystic ovary syndrome: A systematic review

Reis

Gontijo

Rodrigues

et al. 2017

J of Obstet and Gynaecol

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Polycystic ovary syndrome (PCOS) is the most frequent endocrinological disorder that affects women of reproductive age, leading to metabolic alterations, such as hyperandrogenism, obesity, menstrual irregularities, insulin resistance, and polycystic ovaries. The etiology remains unclear, but several genetic and environmental factors have been correlated with manifestations of this syndrome. Vitamin D plays important roles in metabolic pathways affected by PCOS, including calcium homeostasis, the insulin pathway, and sex hormone synthesis. Vitamin D concentration has been related with the severity of this disorder, and vitamin D receptor polymorphisms have been shown in some studies to have an association with some of the patterns presented by PCOS. The objective of this study is to provide an up-to-date review about vitamin D receptor polymorphisms and their association with PCOS.

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Shedding new light on female fertility: The role of vitamin D

Muscogiuri

Altieri

Angelis

et al. 2017

Rev Endocr Metab Disord

117

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In the last decades several studies suggested that vitamin D is involved in the modulation of the reproductive process in women due to the expression of VDR and 1α-hydroxylase in reproductive tissues such as ovary, uterus, placenta, pituitary and hypothalamus. Vitamin D has also a role in the regulation of sex hormone steroidogenesis. Increasing evidence suggests that vitamin D might have a regulatory role in polycystic ovary syndrome (PCOS)-associated symptoms, including ovulatory dysfunction, insulin resistance and hyperandrogenism. Vitamin D deficiency also has been reported to contribute to the pathogenesis of endometriosis due to its immunomodulatory and anti-inflammatory properties. Although most of the studies supported a role of vitamin D in the onset of these diseases, randomized controlled trials to assess the efficacy of vitamin D supplementation have never been performed. In this review we critically discuss the role of vitamin D in female fertility, starting from in vitro and in vivo studies, focusing our attention on the two most frequent causes of female infertility: PCOS and endometriosis.

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Classic PCOS phenotype is not associated with deficiency of endogenous vitamin D and VDR gene polymorphisms rs731236 (TaqI), rs7975232 (ApaI), rs1544410 (BsmI), rs10735810 (FokI): a case–control study of lower Silesian women

Abstract: For the first time, we show that endogenous vitamin D deficiency and VDR polymorphisms are not associated with homogeneous "classic" PCOS phenotype.

Cited by 28 publications

References 30 publications

Vitamin D-Related Gene Polymorphisms, Plasma 25-Hydroxy-Vitamin D, Cigarette Smoke and Non-Small Cell Lung Cancer (NSCLC) Risk

Vitamin D-Related Gene Polymorphisms, Plasma 25-Hydroxy-Vitamin D, Cigarette Smoke and Non-Small Cell Lung Cancer (NSCLC) Risk

Vitamin D receptor polymorphisms and the polycystic ovary syndrome: A systematic review

Shedding new light on female fertility: The role of vitamin D

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