Association study of the three functional polymorphisms (TAS2R46G&gt;A, OR4C16G&gt;A, and OR4X1A&gt;T) with recurrent pregnancy loss

Ryu, Chang Soo; Sakong, Jung Hyun; Ahn, Eun Hee; Kim, Jung Oh; Ko, Da Eun; Kim, Ji Hyang; Lee, Woo Sik; Kim, Nam Keun

doi:10.1007/s13258-018-0738-5

Cited by 20 publications

(19 citation statements)

References 34 publications

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“…Because of the ethical limitations, we opted to start this investigation with a test for circumstantial evidence, and that is what we provided here. This joins with the previously noted evidence ranging from a specific polymorphism in an olfactory receptor gene (OR4C16G>A) that has been associated with RPL (Ryu et al, 2019), to the tradition of protective isolation of women during early pregnancy evident in some tribal societies (Van Gennep, 1960), that together bring us to cautiously air this hypothesis. Such framing provides for a much-needed reorientation of thinking in unexplained RPL.…”

Section: Discussionsupporting

confidence: 82%

“…Coincidently, we note that in several tribal societies it is indeed customary in early pregnancy to separate women from the company of men (Van Gennep, 1960). Moreover, human repeated pregnancy loss (RPL) has been associated with a specific polymorphism in an olfactory receptor gene (OR4C16G>A) (Ryu et al, 2019). Nevertheless, this scant anecdotal evidence is not reason enough to test a socially drastic manipulation such as separation, especially during an emotionally complicated time.…”

Section: Introductionmentioning

confidence: 99%

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Unexplained Repeated Pregnancy Loss is Associated with Altered Perceptual and Brain Responses to Men’s Body-Odor

Rozenkrantz

Weissgross

Weiss

et al. 2020

Preprint

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In the Bruce effect, pregnant mice remember the odor of the fathering male, and miscarry in response to the odor of a male stranger. Humans experience a high rate of unexplained spontaneous miscarriage. Could it be that a portion of these miscarriages reflect a Bruce-like effect? Given ethical constraints on a direct test, we instead probed for circumstantial evidence in women with repeated pregnancy loss (RPL). Consistent with a Bruce-like effect, women with RPL remembered the body-odor of their spouse, but controls could not. Also consistent with a Bruce-like effect, body-odor from a stranger man caused increased activity in the hypothalamus of women experiencing RPL, yet decreased activity in the hypothalamus of women controls. Finally, RPL was associated with reduced olfactory-bulb volume. Although not causal, these observations link RPL with an altered behavioral and brain response to men's body-odor, implicating the olfactory system in this poorly understood or managed condition.

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Section: Discussionsupporting

confidence: 82%

Section: Introductionmentioning

confidence: 99%

Unexplained Repeated Pregnancy Loss is Associated with Altered Perceptual and Brain Responses to Men’s Body-Odor

Rozenkrantz

Weissgross

Weiss

et al. 2020

Preprint

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“…To analyze baseline characteristics of CRC and control patients, we used chi-square tests for categorical data and Student's ttests for continuous data (21,22). We estimated the association of VEGF and KDR polymorphisms with colorectal cancer incidence using adjusted odds ratios (AORs) and 95% confidence intervals (95% CIs) with multivariate logistic regression that was adjusted for age, gender, HTN, DM, BMI, and HDL-C. We chose HTN, DM, BMI, and HDL-C as adjustment variables because the risk factors for metabolic syndrome are closely associated with colorectal cancer.…”

Section: Discussionmentioning

confidence: 99%

Genetic Variants of HOTAIR Associated With Colorectal Cancer Susceptibility and Mortality

et al. 2020

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In colorectal carcinogenesis, the unique molecular and genetic changes that occur within cells result in specific CRC phenotypes. The involvement of the long non-coding RNA, HOTAIR, in cancer development, progression, and metastasis is well-established. Various studies have reported on the contribution of HOTAIR to cancer pathogenesis. Therefore, we selected four HOTAIR polymorphisms (rs7958904G>C, rs1899663G>T, rs4759314A>G, and rs920778T>C) to evaluate the association of each variant with CRC prevalence and prognosis. We conducted a case-control study of 850 individuals to identify the genotype frequencies of each polymorphism. The study population included 450 CRC patients and 400 control individuals that were randomly selected following a health screening. Notably, rs7958904 and rs1899663, their hetero genotype, and the dominant model were significantly different when compared to the healthy control group (rs7958904; AOR = 1.392, 95% CI = 1.052-1.843, P = 0.021). To evaluate the effect of HOTAIR polymorphisms on the survival rate, we analyzed patient mortality and relapse occurrence within 3 and 5 years with Cox-regression analysis. The rs7958904 CC polymorphism mortality rate was significantly higher than the GG polymorphism mortality rate (adjusted HR = 2.995, 95% CI = 1.189-7.542, P = 0.021). In addition, the rs920778 CC genotype was significantly different than the TT genotype (adjusted HR = 3.639, 95% CI = 1.435-9.230, P = 0.007). In addition, this study confirmed that genetic variants of HOTAIR alter the mRNA expression level (P < 0.01). We suggest that HOTAIR rs7958904G>C which is associated with CRC prevalence and mortality is a potential biomarker for CRC. The association between HOTAIR gene polymorphisms and CRC prevalence were reported for the first time.

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“…Therefore, folate and vitamin B12 deficiencies can cause increased serum levels of homocysteine contributing to osteoporosis and osteoporotic bone fractures. Cobalamin is first bound to cobalamin transport protein (TC II, encoded by TCN2 gene) and TC II-cobalamin complex then enters the cells via its interaction with TC II receptor (encoded by CD320 gene) on the cell surface [15,19,21]. Transport of thiamine and folate into cells can occur via thiamine carrier 1 (TC1) (encoded by SLC19A2) and reduced folate carrier (encoded by SLC19A1), respectively [18].…”

Section: Discussionmentioning

confidence: 99%

3’-UTR Polymorphisms of Vitamin B-Related Genes Are Associated with Osteoporosis and Osteoporotic Vertebral Compression Fractures (OVCFs) in Postmenopausal Women

Ahn

Kim

et al. 2020

Genes

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As life expectancy increases, the prevalence of osteoporosis is increasing. In addition to vitamin D which is well established to have an association with osteoporosis, B vitamins, such as thiamine, folate (vitamin B9), and cobalamin (vitamin B12), could affect bone metabolism, bone quality, and fracture risk in humans by influencing homocysteine/folate metabolism. Despite the crucial role of B vitamins in bone metabolism, there are few studies regarding associations between B vitamin-related genes and osteoporosis. In this study, we investigated the genetic association of four single nucleotide polymorphisms (SNPs) within the 3’-untranslated regions of vitamin B-related genes, including TCN2 (encodes transcobalamin II), CD320 (encodes transcobalamin II receptor), SLC19A1 (encodes reduced folate carrier protein 1), and SLC19A2 (encodes thiamine carrier 1), with osteoporosis and osteoporotic vertebral compression fracture (OVCF). We recruited 301 postmenopausal women and performed genotyping of CD320 rs9426 C>T, TCN2 rs10418 C>T, SLC19A1 rs1051296 G>T, and SLC19A2 rs16862199 C>T using a polymerization chain reaction-restriction fragment length polymorphism assay. There was a significantly higher incidence of both osteoporosis (AOR 5.019; 95% CI, 1.533–16.430, p < 0.05) and OVCF (AOR, 5.760; 95% CI, 1.480–22.417, p < 0.05) in individuals with genotype CD320 CT+TT and high homocysteine concentrations. Allele combination analysis revealed that two combinations, namely CD320 C-TCN2 T-SLC19A1 T-SLC19A2 C (OR, 3.244; 95% CI, 1.478–7.120, p < 0.05) and CD320 T-TCN2 C-SLC19A1 G-SLC19A2 C (OR, 2.287; 95% CI, 1.094–4.782, p < 0.05), were significantly more frequent among the osteoporosis group. Our findings suggest that SNPs within the CD320 gene in 3´-UTR may contribute to osteoporosis and OVCF occurrences in some individuals. Furthermore, specific allele combinations of CD320, TCN2, SLC19A1, and SLC19A2 may contribute to increased susceptibility to osteoporosis and OVCF.

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Association study of the three functional polymorphisms (TAS2R46G>A, OR4C16G>A, and OR4X1A>T) with recurrent pregnancy loss

Cited by 20 publications

References 34 publications

Unexplained Repeated Pregnancy Loss is Associated with Altered Perceptual and Brain Responses to Men’s Body-Odor

Unexplained Repeated Pregnancy Loss is Associated with Altered Perceptual and Brain Responses to Men’s Body-Odor

Genetic Variants of HOTAIR Associated With Colorectal Cancer Susceptibility and Mortality

3’-UTR Polymorphisms of Vitamin B-Related Genes Are Associated with Osteoporosis and Osteoporotic Vertebral Compression Fractures (OVCFs) in Postmenopausal Women

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