International Journal of Human Genetics

This study examined impacts of lncRNA HOX Transcript Antisense RNA (HOTAIR), miR-217 and Glycerol-3-phosphate dehydrogenase 2 (GPD2) on progressions of cardiomyocytes after hypoxia damage. Hypoxia treatment induced low cell viability and increased apoptosis. RT-qPCR evaluated suppressed expressions of lncRNA HOTAIR. Overexpressed lncRNA HOTAIR accelerated AC16 cell viability but restrained cell apoptosis and proinflammatory protein expressions while the knockdown of HOTAIR caused opposite results. MiR-217 then was examined to be inhibited by HOTAIR overexpression, whose upregulation reduced AC16 cell viability but facilitated apoptosis and pro-inflammatory protein expressions. Luciferase reporter test then verified that GPD2 was bound and decreased by miR-217, which promoted AC16 cell viability but hampered cell apoptosis and pro-inflammatory protein expressions after overexpression. Moreover, PI3K/AKT signaling pathway was activated by overexpression of GPD2

LiHua Dai

LncRNA HOTAIR/MiR-217/GPD2 Axis Medicates Hypoxia Injury of Myocardial Cells

LncRNA HOTAIR/MiR-217/GPD2轴介导心肌细胞缺氧损伤

ABSTRACT High polymorphism of the human leukocyte antigen (HLA) alleles is frequently used to determine the origin and migration of human population. Furthermore, HLA-A, -B and -DR alleles specific frequencies are important to distingush the genetic structure between related enthic groups and is helpful in hematopoietic stem cell, organ transplantation and disease association. The data on HLA-A, B and DRBI* loci at a high-resolution level is limited in Punjab Population, Pakistan, therefore, the present research was designed to explore the genetic profile of patients collected from Punjab, Pakistan using HLA-A, HLA-B and HLA-DRBI* genotypes with sequence specific primers. The allelic frequencies, haplotype distribution and genetic distances were investigated to map a genetic relationship. The most common alleles and haplotypes originating in Punjabi population were HLA-02, HLA-B*40, HLA-DRB1*15, A*2602-B*08-DRB*03, and A*02-B*51-DRB1*13. The bootstrap stats was applied with the phylogenetic analysis suggesting a strong evolutionary relationship with 80 percent validation. This shows that Punjabis have heredity with Sindhis as their personal predecessor. Altogether, these findings would be helpful in the selection of transplantation procedure, planning donor registry and for anthropologic studies.

Muhammad Idrees

HLA Polymorphism in Punjabi Population of Pakistan

巴基斯坦旁遮普人群中的HLA多态性

ABSTRACT Cervical cancer, the fourth common gynecologic malignancy, causes huge menace to female health. This work studied the role of miR-155 and ING4 in changes in proliferation, and apoptosis in epithelial–mesenchymal transition (EMT) of cervical cancer cells. RNA levels of miR-155 and ING4 were assessed with RT-qPCR. MiR-155 inhibition and ING4 overexpression were achieved through transfection methods, whose expressions were evaluated by RT-qPCR. CCK-8 and flow cytometry measured cell viabilities and apoptosis, respectively. RT-qPCR was also implemented for examining expressions of E-cadherin, Snail and N-cadherin. MiR-155 was highly expressed in cervical cancer cells while its suppression retarded cell viabilities and EMT but enhanced the apoptosis. In contrast, ING4 expressions were significantly decreased in cervical cancer cells. Overexpression of ING4 blocked cell viabilities and EMT but promoted apoptosis. Moreover, overexpressed ING4 sharply inhibited cell viabilities and EMT and enhanced apoptosis. MiR-155 might accelerate proliferation, EMT and suppress apoptosis in cervical cancer cells in vitro while ING4 played an antipodal role. Further studies are needed for gaining comprehensive knowledge of miR-155 and ING4 in the future.

Min Du Du

MiR-155 Promotes Proliferation and Epithelial-mesenchymal Transition (EMT) and Inhibits Apoptosis of Cervical Cancer Cells via Regulating ING4

MiR-155通过调节ING4促进宫颈癌细胞增殖和上皮-间质转化（EMT）并抑制细胞凋亡

This paper compared the changes of bone metabolic markers (BTM) in patients with Type 2 Diabetes Mellitus (T2DM) with or without diabetic kidney disease (DKD). 204 T2DM patients were divided into 4 groups, such that group 1 had no albuminuria, group 2 had microalbuminuria, group 3 with macroalbuminuria, and group 4 with DKD according to urine albumin and albumin to creatinine ratio (ACR) and levels of serum creatinine (SCR). The ACR, SCR, uric acid (UA), osteocalcin (OC), procollagen type I N-terminal propeptide (PINP), C-terminal telopeptide of type I collagen (CTX) and bone mineral density of the lumbar vertebrae 1-4 (BMDLV) in DKD were considerably higher than those who were non-DKD (P&lt;0.05). When there is no DKD in diabetes, ACR detection is the most sensitive and specific. When it comes to DKD, the SCR is the most sensitive, and PINP specificity is greater than CTX, but the sensitivity is lower. DKD is a major contributor to osteoporosis risk.

Yujie Wu

Clinical Implications of Bone Metabolic Markers in Patients with Type 2 Diabetes Mellitus

2型糖尿病患者骨代谢标志物的临床意义

The researchers aimed to explore the correlations between high-mobility group box 1 (HMGB1) and T helper cell (Th1/Th2) cytokines in the peripheral blood of patients with unexplained recurrent spontaneous abortion (URSA). After treatment, IL-2, IFN-ã and HMGB1 expressions significantly declined, while IL-4 and IL-10 expressions rose in URSA group (P&lt;0.05). HMGB1, IL-2 and IFN-ã expressions were significantly lower and IL-4 and IL-10 expressions were higher in the successful pregnancy group than those in the failed pregnancy group (P&lt;0.05). HMGB1 was positively correlated with IL-2 and IFN-ã, while negatively correlated with IL-4 and IL-10 (P&lt;0.01). Th1 cell percentage and Th1/Th2 ratio were significantly higher and Th2 cell percentage was lower at 12 and 24 hours, than those under stimulation with HMGB1 at 0 hours (P&lt;0.05). URSA is associated with the shift of Th1/Th2 balance toward Th1. HMGB1 may regulate the balance of Th1/Th2 immune response, as a potential target for treating URSA.

Dan Fu

Correlations Between High-mobility Group Box 1 and Th1/Th2 Cytokines in Peripheral Blood of Patients with Unexplained Recurrent Spontaneous Abortion

高迁移率族蛋白1与不明原因复发性自然流产患者外周血中Th1/Th2细胞因子的相关性

A multifaceted approach is the current modality to the diagnoses of acute leukaemia. Given the importance of knowing chromosomal aberrations for rapid diagnosis and better treatment selection, this study assessed the frequency of common chromosomal translocations among acute leukaemia patients. In this retrospective study, both conventional karyotype and RT-PCR detecting translocations (HemaVision®-28N) were utilised in 400 patients with acute leukaemia of all subtypes in King Abdulaziz University, Jeddah (2015-2020). The researchers identified 38 acute leukaemia cases associated with translocations out of 400 new cases (9.5%), 326 samples were negative (81.5%) and 36 resisted PCR (9%). The most frequent observed translocation is t(9;22) (q34;q11.2) P190 (representing 28.9% of the total positive calls), followed by t(15;17) (q24;q21) (PML-RARA) and t(8;21) AML-ETO, each of which represents 13 percent. The resulting acute leukaemia translocation frequencies are similar to that published in the literature both locally and globally

Samah Saharti

Pattern of Translocations in Acute Leukaemia: A Single Centre Experience

急性白血病中易位模式：单中心经验

A multifaceted approach is the current modality to the diagnoses of acute leukaemia. Given the importance of knowing chromosomal aberrations for rapid diagnosis and better treatment selection, this study assessed the frequency of common chromosomal translocations among acute leukaemia patients. In this retrospective study, both conventional karyotype and RT-PCR detecting translocations (HemaVision®-28N) were utilised in 400 patients with acute leukaemia of all subtypes in King Abdulaziz University, Jeddah (2015-2020). The researchers identified 38 acute leukaemia cases associated with translocations out of 400 new cases (9.5%), 326 samples were negative (81.5%) and 36 resisted PCR (9%). The most frequent observed translocation is t(9;22) (q34;q11.2) P190 (representing 28.9% of the total positive calls), followed by t(15;17) (q24;q21) (PML-RARA) and t(8;21) AML-ETO, each of which represents 13 percent. The resulting acute leukaemia translocation frequencies are similar to that published in the literature both locally and globally.

急性白血病中的易位模式：单中心经验

The researchers aimed to evaluate micro ribonucleic acid (miR)-124 for its protective role in nerve injury in rats following cerebral ischemia/reperfusion. A focal middle cerebral artery embolism model was constructed. Compared with sham operation group, model and miR-124 NC groups had significantly increased miR-124 expression, neurobehavioral score, malondialdehyde (MDA) content, brain infarct volume, and apoptosis rate, elevated expression levels of Bcl-2- associated X (Bax) protein as well as cleaved caspase-3, 8 and 9, attenuated activity of superoxide dismutase (SOD), and lowered expression of B-cell lymphoma 2 (Bcl-2) (P&lt;0.01). By contrast to those in model and miR-124 NC groups, Bcl- 2 expression rose, miR-124 expression, neurobehavioral score, brain infarct volume percentage and apoptosis rate reduced, Bax, cleaved caspase-3, 8 and 9 expression levels declined, SOD activity enhanced, and MDA content in miR- 124 mimic group dropped (P&lt;0.01). In conclusion, miR-124 protects rats from nerve injury after cerebral ischemia/ reperfusion by improving the antioxidant capacity and regulating the expressions of apoptosis-associated proteins.

Li Wen

Role of Micro Ribonucleic Acid-124 in Protecting Against Nerve Injury After Cerebral Ischemia/Reperfusion

微小核糖核酸-124在脑缺血/再灌注后神经损伤保护中的作用

Adolescent Idiopathic Scoliosis (AIS) is a three-dimensional spine deformity with lateral curvature having a Cobb angle exceeding 10° in the individual. It affects about 1-4 percent of adolescents globally and more frequently occurs in females than males. Despite the extensive research carried out on AIS, its aetiology is not known yet. However, several genetic studies suggest the contribution of various genetic variants in the possible aetiology of AIS. This review summarises the genetic association studies, including linkage, candidate as well as genome-wide association studies that were carried out globally on AIS and also categorised the associated genes in different biological pathways such as neurodevelopmental, hormone-related, cartilage and bone development pathways, based on their potential functional roles in the respective pathway, to understand the pathology of the disorder.

Swarkar Sharma

http://krepublishers.com/02-Journals/IJHG/IJHG-24-0-000-24-Web/IJHG-24-0-000-24-Contents/IJHG-24-0-000-24-Content.htm

国际人类遗传学杂志第24卷第0期内容页

Although EGFR inhibitors have high curative effect on lung adenocarcinoma, EGFR inhibitor resistance is still a difficult problem that must be overcome at present. By integrating bulk RNA-seq data from EGFR inhibitorsensitive and resistant lung adenocarcinoma cell lines, the researchers identified key genes associated with EGFR inhibitor resistance. By integrating single-cell RNA-seq data from 12 clinical lung adenocarcinoma samples, 22 subpopulations of lung adenocarcinoma cells were identified. This study not only confirmed that the cellular heterogeneity of lung adenocarcinoma is associated with EGFR inhibitor resistance, but also cell subpopulations with EGFR inhibitor resistance properties, such as cluster6, may be closely related to tumor malignancy, suggesting that the study focusing on EGFR inhibitor resistant subpopulations will help to find suitable strategies to overcome EGFR inhibitor resistance.

短名	Int. J. Hum. Genet.
国际分区	GENETICS & HEREDITY(Q4)
期刊索引	SCI Q4中科院 4 区

ISSN	0972-3757, 2456-6330
国内分区	生物学(4区)生物学遗传学(4区)

涉及主题	生物遗传学医学化学生物化学基因内科学社会学病理
出版信息	出版商: Kamla-Raj Enterprises，出版周期: Irregular，期刊类型: journal，开源期刊: 否
基本数据	创刊年份: 2008，原创研究文献占比: 100.00%，自引率:N.A.， Gold OA占比: 52.87%
平均审稿周期	网友分享经验：>12周，或约稿
平均录用比例	网友分享经验：容易

International Journal of Human Genetics

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LncRNA HOTAIR/MiR-217/GPD2 Axis Medicates Hypoxia Injury of Myocardial Cells

HLA Polymorphism in Punjabi Population of Pakistan

MiR-155 Promotes Proliferation and Epithelial-mesenchymal Transition (EMT) and Inhibits Apoptosis of Cervical Cancer Cells via Regulating ING4

Clinical Implications of Bone Metabolic Markers in Patients with Type 2 Diabetes Mellitus

Correlations Between High-mobility Group Box 1 and Th1/Th2 Cytokines in Peripheral Blood of Patients with Unexplained Recurrent Spontaneous Abortion

Pattern of Translocations in Acute Leukaemia: A Single Centre Experience

Pattern of Translocations in Acute Leukaemia: A Single Centre Experience

Role of Micro Ribonucleic Acid-124 in Protecting Against Nerve Injury After Cerebral Ischemia/Reperfusion

http://krepublishers.com/02-Journals/IJHG/IJHG-24-0-000-24-Web/IJHG-24-0-000-24-Contents/IJHG-24-0-000-24-Content.htm

Cellular Heterogeneity of Lung Adenocarcinoma is Correlated with EGFR Inhibitor Resistance