1.Effect of vitamin D binding protein gene polymorphism on susceptibility and prognosis of severe acute pancreatitis.
Yongyuan LI ; Yuanlin DING ; Shusen JING ; Feng SU ; Jianping SHAO
Chinese Critical Care Medicine 2023;35(10):1058-1062
OBJECTIVE:
To investigate the effect of vitamin D binding protein (DBP) gene polymorphism on susceptibility and prognosis of severe acute pancreatitis (SAP).
METHODS:
A prospective study was conducted. Eighty-three patients with SAP who were admitted to the department of general surgery of Tianjin Fifth Central Hospital from March 2018 to March 2021 were selected as the research objects, and 83 healthy people in the same period were selected as controls. Peripheral blood RNA was extracted and reverse transcribed into cDNA, and the genotype and allele frequency of DBP gene rs7041 locus were detected by fluorescence quantitative analyzer. Hardy-Weinberg equilibrium was used to test the genetic balance. On the day of admission, serum C-reactive protein (CRP) level was detected by scattering immunoturbidimetry, serum procalcitonin (PCT) level was detected by electrochemiluminescence, serum DBP level was detected by enzyme-linked immunosorbent assay (ELISA), and neutrophil to lymphocyte ratio (NLR) was calculated automatically by the instrument. The length of intensive care unit (ICU) stay, the length of hospital stay and prognosis during hospitalization of patients were statistically analyzed. Multivariate Logistic regression analysis was used to screen the influencing factors of SAP occurrence.
RESULTS:
The results of Hardy-Weinberg equilibrium test showed that the distribution of gene polymorphisms in the two groups of subjects conformed to the law of genetic equilibrium. The frequencies of TT genotype and T allele of DBP gene rs7041 locus in the patients of SAP group were significantly higher than those in the healthy control group [TT genotype: 34.94% (29/83) vs. 9.64% (8/83), T allele: 55.42% (92/166) vs. 38.55% (64/166), both P < 0.01], and the frequency of GT genotype was significantly lower than that in the healthy control group [40.96% (34/83) vs. 57.83% (48/83), P < 0.05]. There was no significant difference in the frequency of GG genotype between the healthy control group and SAP group [32.53% (27/83) vs. 24.10% (20/83), P > 0.05]. Further multivariate Logistic regression analysis showed that TT genotype [odds ratio (OR) = 2.831, 95% confidence interval (95%CI) was 1.582-5.067, P < 0.001] and T allele (OR = 2.533, 95%CI was 1.435-4.472, P < 0.001) of DBP gene rs7041 locus were independent risk factors for SAP in healthy people, while GT genotype was a protective factor for SAP (OR = 0.353, 95%CI was 0.143-0.868, P = 0.041). The levels of CRP, PCT, NLR and DBP in patients with TT genotype of DBP gene rs7041 locus were significantly higher than those in patients with GG/GT genotype on the day of admission in SAP group [CRP (mg/L): 43.25±13.25 vs. 31.86±12.83, PCT (μg/L): 1.53±0.24 vs. 1.21±0.20, NLR: 3.15±0.53 vs. 2.71±0.48, DBP (μg/L): 87.78±19.64 vs. 70.58±18.67, all P < 0.01]. The length of ICU stay in patients with TT genotype of DBP gene rs7041 locus in SAP group was significantly longer than that in patients with GG/GT genotype (days: 11.35±1.58 vs. 9.71±1.35, P < 0.01). The length of hospital stay of patients with TT genotype was longer than that of patients with GG/GT genotype (days: 23.41±3.64 vs. 23.17±3.57), and the in-hospital mortality was higher than that of patients with GG/GT genotype [34.48% (10/29) vs. 29.63% (16/54)], but the difference was not statistically significant (both P > 0.05).
CONCLUSIONS
The risk of SAP was significantly increased in patients with TT genotype of rs7041 locus of DBP gene, and the mechanism may be related to the increase of DBP expression. And carrying the TT genotype will prolong the ICU hospitalization time of SAP patients, but the effect on prognosis is not obvious.
Humans
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Polymorphism, Single Nucleotide
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Prospective Studies
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Vitamin D-Binding Protein/genetics*
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Acute Disease
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Pancreatitis/genetics*
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Genotype
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Prognosis
2.Genetic Polymorphism of the Serum Proteins of Horses in Jeju.
Jin Ah SHIN ; Young Hoon YANG ; Hee Seok KIM ; Young Min YUN ; Kyoung Kap LEE
Journal of Veterinary Science 2002;3(4):255-263
The study was carried out to investigate the genetic polymorphism of the serum proteins of horses in Cheju. They were assigned to three groups; 45 Cheju native horses(CNH), 60 Cheju racing horses(CRH) and 60 Thoroughbreds(TB). We analyzed the phenotypes and gene frequencies of serum proteins which were albumin (Alb), vitamin-D binding protein(GC), esterase (ES), A1B glycoprotein(A1B) and transferrin(TF) loci using horizontal polyacrylamide gel electrophoresis (HPAGE).All of the loci, except A1B in TB, showed polymorphisms and different allelic and phenotypic frequencies in all three groups. ESS and TFF1 were not observed in CNH. Allelic frequencies of AlbB, ESI, TFD and TFF1 were high in TB. All of the loci, except ES locus in CRH, appeared to be in a state of Hardy-Weinberg equilibrium from goodness-of-fit test in all three groups Heterozygosity estimates at Alb, ES and TF loci were high, but GC and A1B loci were low in all three groups. Average heterozygosities in CNH, CRH and TB were 0.3535, 0.3555 and 0.2726, respectively. Results showed differences in the frequencies of alleles and phenotypes of several serum protein loci between CNH and CRH, suggested that CRH might be crossed with other breeds of horses in some degree.
Alleles
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Animals
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Blood Proteins/*genetics
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Electrophoresis, Polyacrylamide Gel
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Esterases/genetics
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Genetic Variation
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Horses/blood/*genetics
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Polymorphism, Genetic
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Serum Albumin/genetics
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Transferrin/genetics
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Vitamin D-Binding Protein/genetics
3.Vitamin D Activities for Health Outcomes.
Annals of Laboratory Medicine 2014;34(3):181-186
Reports describing significant health risks due to inadequate vitamin D status continue to generate considerable interest amongst the medical and lay communities alike. Recent research on the various molecular activities of the vitamin D system, including the nuclear vitamin D receptor and other receptors for 1,25-dihydroxyvitamin D and vitamin D metabolism, provides evidence that the vitamin D system carries out biological activities across a wide range of tissues similar to other nuclear receptor hormones. This knowledge provides physiological plausibility of the various health benefits claimed to be provided by vitamin D and supports the proposals for conducting clinical trials. The vitamin D system plays critical roles in the maintenance of plasma calcium and phosphate and bone mineral homeostasis. Recent evidence confirms that plasma calcium homeostasis is the critical factor modulating vitamin D activity. Vitamin D activities in the skeleton include stimulation or inhibition of bone resorption and inhibition or stimulation of bone formation. The three major bone cell types, which are osteoblasts, osteocytes and osteoclasts, can all respond to vitamin D via the classical nuclear vitamin D receptor and metabolize 25-hydroxyvitamin D to 1,25-dihydroxyvitamin D to activate the vitamin D receptor and modulate gene expression. Dietary calcium intake interacts with vitamin D metabolism at both the renal and bone tissue levels to direct either a catabolic action on the bone through the endocrine system when calcium intake is inadequate or an anabolic action through a bone autocrine or paracrine system when calcium intake is sufficient.
Calcium/metabolism
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Fractures, Bone/metabolism/pathology
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Humans
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Osteoporosis/metabolism/pathology
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Protein Binding
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Receptors, Calcitriol/genetics/metabolism
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Vitamin D/analogs & derivatives/*metabolism
4.Relationship of Vitamin D Binding Protein Polymorphisms and Lung Function in Korean Chronic Obstructive Pulmonary Disease.
Ji Ye JUNG ; Dong Pil CHOI ; Sungho WON ; Young LEE ; Ju Hye SHIN ; Young Sam KIM ; Se Kyu KIM ; Yeon Mok OH ; Il SUH ; Sang Do LEE
Yonsei Medical Journal 2014;55(5):1318-1325
PURPOSE: Multiple genetic factors are associated with chronic obstructive pulmonary disease (COPD). The association of gene encoding vitamin D binding protein (VDBP, GC) with COPD has been controversial. We sought to investigate the types of GC variants in the Korean population and determine the association of GC variants with COPD and lung function in the Korean population. MATERIALS AND METHODS: The study cohort consisted of 203 COPD patients and 157 control subjects. GC variants were genotyped by the restriction fragment-length polymorphism method. Repeated measures of lung function data were analyzed using a linear mixed model including sex, age, height, and pack-years of smoking to investigate the association of GC genetic factors and lung function. RESULTS: GC1F variant was most frequently observed in COPD (46.1%) and controls (42.0%). GC1S variant (29.0% vs. 21.4%; p=0.020) and genotype 1S-1S (8.3% vs. 3.4%; p=0.047) were more commonly detected in control than COPD. According to linear mixed model analysis including controls and COPD, subjects with genotype 1S-1S had 0.427 L higher forced expiratory volume in 1 second (FEV1) than those with other genotypes (p=0.029). However, interaction between the genotype and smoking pack-year was found to be particularly significant among subjects with genotype 1S-1S; FEV1 decreased by 0.014 L per smoking pack-year (p=0.001). CONCLUSION: This study suggested that GC polymorphism might be associated with lung function and risk of COPD in Korean population. GC1S variant and genotype 1S-1S were more frequently observed in control than in COPD. Moreover, GC1S variant was more common in non-decliners than in rapid decliners among COPD.
Aged
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Female
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Forced Expiratory Volume
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Genetic Predisposition to Disease
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Genotype
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Humans
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Male
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Middle Aged
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*Polymorphism, Genetic
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Pulmonary Disease, Chronic Obstructive/*genetics/physiopathology
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Respiratory Function Tests
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Smoking
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Vitamin D-Binding Protein/chemistry/*genetics
5.Transcriptional and translational expression of calbindin-D9k in the duodenum, kidney and uterus of a female canine model.
Ji Young SIM ; Eui Man JUNG ; Yeong Min YOO ; Kyung Chul CHOI ; Eui Bae JEUNG
Journal of Veterinary Science 2010;11(1):15-19
Calbindin-D9k (CaBP-9k) is a cytosolic calcium-binding protein expressed in tissues in the intestine, uterus, placenta, kidney, pituitary gland and bone. Its exact function is unknown, but it is considered to regulate intracytoplasmic concentration and transport of free ions (Ca2+). CaBP-9k protein is involved in intestinal calcium absorption in the intestine and in the regulation of myometrial activity by intracellular calcium in the uterus. Renal CaBP-9k protein is expressed at the site of calcium re-absorption in the kidney and expressed in distal convoluted tubules, where it is thought to facilitate calcium re-absorption. Expression of the CaBP-9k gene has been explored in most mammalians except in a canine model. Presently, we elucidated the expression of CaBP-9k mRNA and protein in the duodenum, kidney and uterus in a canine model involving two adult (2.5-year-old) female beagles. To collect tissues, the dogs were euthanized and then the abdominal cavity was exposed by midline incision. The proximal duodenum, cortex of kidney and uterine horn were collected. Expression of CaBP-9k mRNA was confirmed by reverse transcription-polymerase chain reaction (RT-PCR) and real-time PCR. CaBP-9k protein expression and localization were ascertained by Western blot analysis and immunohistochemistry, respectively. CaBP-9k mRNA was detected in the duodenum, but not in the kidney and uterus. Its protein was expressed only in the enterocytes of the duodenum. Taken together, the results indicate that CaBP-9k mRNA and protein are highly expressed in the enterocytes of the duodenum of a canine model, consistent with findings in other mammalian species.
Animals
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Blotting, Western/veterinary
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Calcium-Binding Protein, Vitamin D-Dependent/*biosynthesis/genetics
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Dogs/*physiology
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Duodenum/*physiology
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Female
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Immunohistochemistry/veterinary
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Kidney/*physiology
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RNA, Messenger/biosynthesis/genetics
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Reverse Transcriptase Polymerase Chain Reaction/veterinary
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Transcription, Genetic
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Uterus/*physiology