Polymorphisms in the P1 promoter of the IGF-1 gene in children with growth disorders

Broniarczyk, Justyna; Kędzia, Andrzej W.; Nowak, Witold; Koscinski, Lukasz; Lewandowski, Mikołaj; Goździcka-Józefiak, Anna

doi:10.18544/pedm-20.04.0013

Cited by 3 publications

(4 citation statements)

References 37 publications

(42 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Few studies have explored the relationship between genetic variations in the IGF system and the risk of SPTB. A previous study conducted in Chile found that IGF1 rs5742612 was associated with SPTB risk, while this SNP was reported to have no correlation with the levels of circulating IGF1 . In the present study, women with GA or GA/AA genotypes of IGF1 rs972936, which is located in intron region, had an increased risk of SPTB compared to those with the GG genotype.…”

Section: Discussioncontrasting

confidence: 59%

“…A previous study conducted in Chile found that IGF1 rs5742612 was associated with SPTB risk, 18 while this SNP was reported to have no correlation with the levels of circulating IGF1. [19][20][21] In the present study, women with GA or GA/AA genotypes of IGF1 rs972936, which is located in intron region, had an increased risk of SPTB compared to those with the GG genotype. A previous study of European Alzheimer's disease patients showed that individuals with AG and AA genotypes of IGF1 rs972936 had lower serum IGF1 levels compared to those with the GG genotype.…”

Section: Discussionsupporting

confidence: 44%

See 1 more Smart Citation

Maternal IGF1 and IGF1R polymorphisms and the risk of spontaneous preterm birth

Lai

Liu

et al. 2017

Clinical Laboratory Analysis

View full text Add to dashboard Cite

show abstract

Section: Discussioncontrasting

confidence: 59%

Section: Discussionsupporting

confidence: 44%

Maternal IGF1 and IGF1R polymorphisms and the risk of spontaneous preterm birth

Lai

Liu

et al. 2017

Clinical Laboratory Analysis

View full text Add to dashboard Cite

show abstract

“…Differently, Broniarczyk et al . found that rs35767, rs5742612 polymorphisms in promoter region of IGF1 didn't affect serum IGF1 level in children with growth disorders [ 22 ]. Kanbur and Sesti et al reported that rs35767 was associated with changes of IGF1 level [ 23 , 24 ].…”

Section: Discussionmentioning

confidence: 99%

IGF1gene polymorphisms associated with diabetic retinopathy risk in Chinese Han population

et al. 2017

View full text Add to dashboard Cite

ObjectiveThis study aimed to explore the association of insulin-like growth factor 1 gene (IGF1) polymorphisms with diabetic retinopathy (DR) in a Chinese Han population.MethodsPolymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used for genotyping. Genotype frequencies were compared by chi-square test. Odds ratio (OR) with 95% confidence interval (95%CI) was calculated to express the risk intensity of DR. Linkage disequilibrium between IGF1 polymorphisms was analyzed by Haploview. Serum IGF1 concentration was measured by enzyme-linked immunosorbent assays (ELISA) and assessed by student's t test.ResultsAG genotype of rs6218 and TT genotype of rs35767 were significantly associated with the elevated risk of DR (rs6218: OR=1.77, P=0.04; rs35767: OR=2.32, P=0.03) and type II diabetes mellitus (T2DM) (rs6218: OR=1.92, P=0.00. rs35767: OR=2.29, P=0.02). Only T allele of rs35767 significantly increased the risk of DR (OR=1.45, P=0.04), however, rs6218 (OR=1.92, P=0.00), rs35767 (OR=0.02, P=0.02) and rs5742612 (OR=2.21, P=0.04) showed obvious association with T2DM. Haplotypes were only associated with T2DM, but not DR. Minor allele homozygote of rs35767 was obviously correlated with serum IGF1 level.ConclusionIGF1 rs6218 and rs35767 polymorphisms contribute to the risk of DR. IGF1 rs35767 polymorphism may participate in the regulation of serum IGF1 concentration in DR.

show abstract

“…However, the MMS type was only detected in the serum of 22.2% and in the tissue of 9.0% of patients with EC. A previous bioinformatics study by our group showed that the CA repeat region of the P1 promoter of IGF-1 is able to form DNA loop structures, which may serve as a recognition site for transcriptional modulators of the IGF-1 gene ( 38 ). Thus, changes in the number of CA repeats may have an influence on IGF-1 promoter activity and be associated with EC; however, further studies are required to confirm this.…”

Section: Discussionmentioning

confidence: 99%

Microsatellite polymorphism in the P1 promoter region of the IGF-1 gene is associated with endometrial cancer

Kwaśniewski¹,

Goździcka-Józefiak²,

Wołuń-Cholewa³

et al. 2016

Molecular Medicine Reports

View full text Add to dashboard Cite

Endometrial carcinoma (EC) is the most common type of gynecological malignancy. Studies have demonstrated that the insulin growth factor (IGF) pathway is implicated in the development of endometrial tumors and that the serum levels of IGF-1 are affected by estrogen. Most EC cells with high microsatellite instability (MSI-H) accumulate mutations at a microsatellite sequence in the IGF-1 gene. The present study investigated the CA repeat polymorphism in the P1 promoter region of the IGF-1 gene among Caucasian females with endometrial hyperplasia, EC and healthy control subjects, whose blood serum and surgical tissue specimens were analyzed. Differences or correlations between the analyzed parameters [serum levels of IGF-1 and IGF binding protein (IGFBP)-1 and IGFBP-3 as well as estrogens among the polymorphisms] were verified using the χ2, Mann-Whitney U, Kruskal-Wallis or Spearman's rank correlation tests. A PCR amplification and DNA sequencing analysis was used for identification of (CA)n repeats in the P1 region of IGF-1. ELISA was used to determine the blood serum levels of IGF-1, IGFBP-1, IGFBP-3 and estrogens. Furthermore, IGF-1 was assessed in endometrial tissues by immunohistochemical analysis. The present study indicated no statistically significant differences between serum levels of IGF-1, IGFBP-1, IGFBP-3 and estrone, estriol and estradiol in the control and study groups. A significant correlation was identified between the IGF-1 levels and estrone levels in the MSI-H polymorphism (r=−0.41, P=0.012) as well as a highly negative correlation between IGF-1 levels and the estradiol levels in the MSI-H polymorphism (r=−0.6, P=0.002). Genotypes without the 19 CA allele were predominantly found in EC. Furthermore, statistical analysis indicated that the number of IGF-1-expressing cells was significantly elevated in MSI-H type 18-20 (P= 0.0072), MSI-L type 19-20 (P=0.025) and microsatellite-stable MSS type 19-19 (P=0.024) compared with those in the MSI-H 20-20 genotype. The present study suggested that it is rather likely that the polymorphisms in the IGF-1 promoter are associated with EC in Caucasian females with regard to its development. In the present study, polymorphisms of the IGF-1 promoter may have been introduced during the genesis of EC and contributed to it by leading to aberrant expression of IGF-1.

show abstract

Polymorphisms in the P1 promoter of the IGF-1 gene in children with growth disorders

Cited by 3 publications

References 37 publications

Maternal IGF1 and IGF1R polymorphisms and the risk of spontaneous preterm birth

Maternal IGF1 and IGF1R polymorphisms and the risk of spontaneous preterm birth

IGF1gene polymorphisms associated with diabetic retinopathy risk in Chinese Han population

Microsatellite polymorphism in the P1 promoter region of the IGF-1 gene is associated with endometrial cancer

Contact Info

Product

Resources

About