Association of insulin growth factor-1 receptor gene polymorphisms with genetic susceptibility to idiopathic short stature

Yang, Yu; Huang, Hui; Wang, W.; Yang, Li; Xie, Liling; Huang, Weiyuan

doi:10.4238/2013.october.18.14

Cited by 8 publications

(5 citation statements)

References 15 publications

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“…These SNPs have not been previously linked to human behaviour or learning and memory. rs2684788 is a 3 UTR SNP and was previously reported to be associated with susceptibility to idiopathic short stature [39]. The other SNP that showed correlation with the retention HVLT-R score was the galanin receptor 1 (GALR1) polymorphism rs9959924.…”

Section: Discussionmentioning

confidence: 99%

Association Study of a Comprehensive Panel of Neuropeptide-Related Polymorphisms Suggest Potential Roles in Verbal Learning and Memory

Avgan,

Sutherland,

Lea

et al. 2023

Genes

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Neuropeptides are mostly expressed in regions of the brain responsible for learning and memory and are centrally involved in cognitive pathways. The majority of neuropeptide research has been performed in animal models; with acknowledged differences between species, more research into the role of neuropeptides in humans is necessary to understand their contribution to higher cognitive function. In this study, we investigated the influence of genetic polymorphisms in neuropeptide genes on verbal learning and memory. Variants in genes encoding neuropeptides and neuropeptide receptors were tested for association with learning and memory measures using the Hopkins Verbal Learning Test—Revised (HVLT-R) in a healthy cohort of individuals (n = 597). The HVLT-R is a widely used task for verbal learning and memory assessment and provides five sub-scores: recall, delay, learning, retention, and discrimination. To determine the effect of candidate variants on learning and memory performance, genetic association analyses were performed for each HVLT-R sub-score with over 1300 genetic variants from 124 neuropeptide and neuropeptide receptor genes, genotyped on Illumina OmniExpress BeadChip arrays. This targeted analysis revealed numerous suggestive associations between HVLT-R test scores and neuropeptide and neuropeptide receptor gene variants; candidates include the SCG5, IGFR1, GALR1, OXTR, CCK, and VIPR1 genes. Further characterization of these genes and their variants will improve our understanding of the genetic contribution to learning and memory and provide insight into the importance of the neuropeptide network in humans.

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Section: Discussionmentioning

confidence: 99%

Association Study of a Comprehensive Panel of Neuropeptide-Related Polymorphisms Suggest Potential Roles in Verbal Learning and Memory

Avgan,

Sutherland,

Lea

et al. 2023

Genes

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“…“CC+CA” genotypes of rs10044169 were associated with a decreased risk of ISS under C dominant model (OR = 0.649). Yang et al [ 24 ] revealed that the rs1976667 and rs2684788 loci were significantly associated with genetic susceptibility to ISS. The G allele at the rs2684788 locus was significantly associated with genetic susceptibility to ISS, showing G dominant inheritance.…”

Section: Discussionmentioning

confidence: 99%

Association between Growth Hormone-Insulin-Like Growth Factor-1 Axis Gene Polymorphisms and Short Stature in Chinese Children

Zhang

Chu

et al. 2018

BioMed Research International

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Objective This study was designed to analyze the association between the growth hormone-insulin-like growth factor-1 (GH-IGF-1) axis gene polymorphisms and short stature in Chinese children. Methods 181 growth hormone deficiency (GHD) patients and 206 normal stature controls were enrolled to attend this study. Five single-nucleotide polymorphisms in the GH receptor (GHR) and 5 SNPs within the GH-signaling pathway were genotyped by matrix-assisted laser desorption/ionization time of flight mass spectrometry. We conducted an association study between these SNPs and the risk of developing short stature. Linkage disequilibrium analysis was performed using Haploview software and the associations of the SNPs frequencies with short stature were analyzed using X2 tests. Results No significant difference was found in gender, weight, height, and BMI between the GHD and control groups, except that the age of GHD group was older than the control one. Allele and genotype frequencies were consistent with those expected from Hardy-Weinberg equilibrium. Compared with the controls, heterozygous genotype frequencies (CT) of rs12515480 and rs6873545 of GHR gene were significantly lower. Genotype frequencies of the other 8 SNPs did not show significant difference between these two groups. Considering a dominant model, an OR < 1 was observed for genotypes rs12515480 (OR = 0.532, P = 0.019) and rs6873545 (OR = 0.587, P = 0.017). Conclusions The heterozygous genotypes of rs12515480 and rs6873545 of GHR gene were associated with decreased risk of GHD in Chinese children.

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“…The estimated annual global incidence of primary liver cancer is 841,000, and the number of deaths is estimated to be 782,000 (1). In China, liver cancer has the second highest mortality rate of malignant tumors, and new liver cancer cases account for more than 50% of the world's total, increasing year by year (2). There are several risk factors for liver cancer, including viral infection, heredity, aflatoxin contamination, Original Article SNP rs2240688 in CD133 gene on susceptibility and clinicopathological features of hepatocellular carcinoma carcinogen exposure, non-fatty alcoholic hepatitis, and various single-nucleotide polymorphisms (SNPs) (1)(2)(3).…”

Section: Introductionmentioning

confidence: 99%

“…In China, liver cancer has the second highest mortality rate of malignant tumors, and new liver cancer cases account for more than 50% of the world's total, increasing year by year (2). There are several risk factors for liver cancer, including viral infection, heredity, aflatoxin contamination, Original Article SNP rs2240688 in CD133 gene on susceptibility and clinicopathological features of hepatocellular carcinoma carcinogen exposure, non-fatty alcoholic hepatitis, and various single-nucleotide polymorphisms (SNPs) (1)(2)(3). Despite the advancements in technology and improvements i n t r e a t m e n t s i n c l u d i n g s u r g e r y, r a d i o t h e r a p y, chemotherapy, and the use of other biological agents, the prognosis of hepatocellular carcinoma (HCC) is poor due to recurrence and metastasis, with a 5-year disease-free survival rate of 16% to 27.1% (4).…”

Section: Introductionmentioning

confidence: 99%

SNP rs2240688 in CD133 gene on susceptibility and clinicopathological features of hepatocellular carcinoma

Pan¹,

Huang²,

Mo³

et al. 2020

Transl Cancer Res TCR

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Background: CD133 is one of the important cancer stem cells (CSCs) markers of hepatocellular carcinoma (HCC). The aim of this study was to explore the relationship between CD133 single-nucleotide polymorphisms (SNPs) and risk factors associated with HCC susceptibility and clinicopathological features in HCC cases and healthy controls from the Guangxi region of southern China.Methods: A case control study was conducted, including 565 HCC patients and 561 control subjects. The genotyping of rs2240688 was performed using the SNaPshot method. Unconditional logistic regression was used to correct for gender, age, and other confounding factors. Odds ratio (OR) and its 95% confidence interval (CI) were calculated to analyze the relationship between allele and genotype frequency and the risk of HCC. Results:The distribution frequencies of CD133 alleles and genotypes in the HCC case group and the control group were statistically significant (P<0.05). The CA heterozygous (P=0.003, OR =1.463, 95% CI: 1.134-1.887) and CC homozygous genotypes (P=0.036, OR =1.910, 95% CI: 1.044-3.493), as well as C carrier status (P=0.004, OR =1.465, 95% CI: 1.136-1.889) and C alleles (P=0.004, OR =1.465, 95% CI: 1.136-1.889), were associated with an increased risk of HCC. Additionally, in the subgroup analysis of CD133 rs2240688 polymorphism and clinical characteristics, the results showed that the genotype distribution of CD133 rs2240688 was significantly different in genotype distribution of metastasis and alanine aminotransferase (ALT).Conclusions: the expression of miRNA binding site rs2240688 of tumor stem cell marker gene CD133 in HCC may be a promising marker for the prediction of HCC, but larger studies are still needed.

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Association of insulin growth factor-1 receptor gene polymorphisms with genetic susceptibility to idiopathic short stature

Cited by 8 publications

References 15 publications

Association Study of a Comprehensive Panel of Neuropeptide-Related Polymorphisms Suggest Potential Roles in Verbal Learning and Memory

Association Study of a Comprehensive Panel of Neuropeptide-Related Polymorphisms Suggest Potential Roles in Verbal Learning and Memory

Association between Growth Hormone-Insulin-Like Growth Factor-1 Axis Gene Polymorphisms and Short Stature in Chinese Children

SNP rs2240688 in CD133 gene on susceptibility and clinicopathological features of hepatocellular carcinoma

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