The associations between single nucleotide polymorphisms and diabetic retinopathy risk: an umbrella review by Shaofen Huang, Yonghui Feng, Ying Sun, Jiazi Liu, Pu Wang, Jingrong Yu, Xin Su, Shasha Han, Shiqi Huang, Haokun Huang, Shiyun Chen, Ying Xu, Fangfang Zeng

“…Carriers of specific genotypes and alleles of the transcription Factor 7-like 2 C/T (TCF7L2 C/T) polymorphism (rs7903146, p < 0.001) might be more susceptible to the occurrence of DR in the homozygous and recessive models, and these associations were supported by “convincing” evidence. …”
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Genotype-Phenotype Correlation of G6PD Mutations among Central Thai Children with G6PD Deficiency by Boonchai Boonyawat, Tim Phetthong, Nithipun Suksumek, Chanchai Traivaree

“…Two female patients (6.9%) were either homozygous or compound heterozygous for the mutations and had G6PD level in the affected male range (35 and 10 IU/ml.RBC). …”
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Leucocytosis and Asymptomatic Urinary Tract Infections in Sickle Cell Patients at a Tertiary Hospital in Zambia by Taonga Musonda, Mildred Zulu, Mulemba Samutela, Annie Kalonda, Hamakwa Mantina, Pauline Okuku, Musalula Sinkala, Panji Nkhoma

“…Sickle cell anaemia (SCA) is an inherited disease resulting from mutations in the β-globin chain of adult haemoglobin that results in the formation of homozygous sickle haemoglobin. It is associated with several complications including an altered blood picture and damage in multiple organs, including the kidneys. …”
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Additional Evidence for DDB2 T338M as a Genetic Risk Factor for Ocular Squamous Cell Carcinoma in Horses by Moriel H. Singer-Berk, Kelly E. Knickelbein, Zachary T. Lounsberry, Margo Crausaz, Savanna Vig, Nikhil Joshi, Monica Britton, Matthew L. Settles, Christopher M. Reilly, Ellison Bentley, Catherine Nunnery, Ann Dwyer, Mary E. Lassaline, Rebecca R. Bellone

“…The risk allele was not identified in Arabians, and no Percherons were homozygous for the risk allele. High-throughput sequencing data from six Haflingers were analyzed to ascertain if any other variant from the previously associated 483 kb locus on ECA12 was more concordant with the SCC phenotype than the DDB2 variant. …”
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Primary Terminal Haemochromatosis in a 50 Year-Old Patient by M. I. Gonik, M. S. Zharkova, O. Yu. Kiseleva, E. V. Berezina, Sh. A. Ondos, Yu. V. Lerner, E. A. Kogan, V. T. Ivashkin

“…Clinical diagnosis: Primary disease: haemochromatosis (homozygous variant HFE 845G > A (A/A)): liver cirrhosis, Child-Pugh class C. …”
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Consequences of insecticide overuse in Hungary: assessment of pyrethroid resistance in Culex pipiens and Aedes albopictus mosquitoes by Rebeka Csiba, Zsaklin Varga, Dorina Pásztor, Bianka Süle, Vera Ihuoma Ogoke Mxinwa, Zoltán Soltész, Brigitta Zana, Krisztián Bányai, Gábor Kemenesi, Kornélia Kurucz

“…In contrast, for Ae. albopictus, the analyzed individuals were found to carry only the susceptible alleles, indicating a homozygous susceptible genotype across the investigated populations on the basis of V1016G and F1534C genes. …”
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Population Genomics Reveals Elevated Inbreeding and Accumulation of Deleterious Mutations in White Raccoon Dogs by Yinping Tian, Yu Lin, Yue Ma, Jiayi Li, Sunil Kumar Sahu, Jiale Fan, Chen Lin, Zhiang Li, Minhui Shi, Fengping He, Lianduo Bai, Yuan Fu, Zhangwen Deng, Huabing Guo, Haimeng Li, Qiye Li, Yanchun Xu, Tianming Lan, Zhijun Hou, Yanling Xia, Shuhui Yang

“…With the finding of a significantly higher dosage of homozygous missense mutations in the white raccoon dog genome, we detected a greater fitness cost in white raccoon dogs. …”
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Overexpression of multiple cytochrome P450 genes with and without knockdown resistance mutations confers high resistance to deltamethrin in Culex quinquefasciatus by Saowanee Chamnanya, Benyapa Kiddela, Jassada Saingamsook, Woottichai Nachaiwieng, Nongkran Lumjuan, Pradya Somboon, Jintana Yanola

“…Heterozygous genotype for the D-Cu( +)/Cu(–) of CYP9M10 gene was detected in Cq_NiH and Cq_NiH-R strains but other strains were mostly homozygous for the Cu(–)/Cu(–). Conclusions Overexpression of multiple cytochrome P450 genes alone has a relatively minor impact on resistance. …”
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Genetic and biochemical analysis of severe hypertriglyceridemia complicated with acute pancreatitis or with low post-heparin lipoprotein lipase mass by Takashi Suzuki, Makoto Kurano, Akari Isono, Takuya Uchino, Yohei Sayama, Honami Tomomitsu, Daiki Mayumi, Ruriko Shibayama, Toru Sekiguchi, Naoki Edo, Kiyoko Uno-Eder, Kenji Uno, Koji Morita, Toshio Ishikawa, Kazuhisa Tsukamoto

“…Three patients were homozygous for APOA5 rs2075291, and one was heterozygous. …”
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Glioma Image-Level and Slide-Level Gene Predictor (GLISP) for Molecular Diagnosis and Predicting Genetic Events of Adult Diffuse Glioma by Minh-Khang Le, Masataka Kawai, Kenta Masui, Takashi Komori, Takakazu Kawamata, Yoshihiro Muragaki, Tomohiro Inoue, Ippei Tahara, Kazunari Kasai, Tetsuo Kondo

“…Using the concept of multiple-instance learning, we developed an AI framework named GLioma Image-level and Slide-level gene Predictor (GLISP) to predict nine genetic abnormalities in hematoxylin and eosin sections: <i>IDH1/2</i>, <i>ATRX</i>, <i>TP53</i> mutations, <i>TERT</i> promoter mutations, <i>CDKN2A/B</i> homozygous deletion (CHD), <i>EGFR</i> amplification (<i>EGFR</i>amp), 7 gain/10 loss (7+/10−), 1p/19q co-deletion, and <i>MGMT</i> promoter methylation. …”
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Four cardiomyopathy patients with a heterozygous DSG2 p.Arg119Ter variant by Takuya Sumida, Shou Ogawa, Shuichiro Higo, Yuki Kuramoto, Ryo Eto, Yoshihiko Ikeda, Congcong Sun, Junjun Li, Li Liu, Tomoka Tabata, Yoshihiro Asano, Mikio Shiba, Yasuhiro Akazawa, Daisuke Nakamura, Takafumi Oka, Tomohito Ohtani, Yasushi Sakata

“…We previously identified a homozygous DSG2 p.Arg119Ter stop-gain variant in a patient with juvenile-onset cardiomyopathy and advanced biventricular heart failure. …”
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Variant rs4149584 (R92Q) of the TNFRSF1A gene in patients with familial multiple sclerosis by U. Gomez-Pinedo, J.A. Matías-Guiu, L. Torre-Fuentes, P. Montero-Escribano, L. Hernández-Lorenzo, V. Pytel, P. Maietta, S. Alvarez, I. Sanclemente-Alamán, L. Moreno-Jimenez, D. Ojeda-Hernandez, N. Villar-Gómez, M.S. Benito-Martin, B. Selma-Calvo, L. Vidorreta-Ballesteros, R. Madrid, J. Matías-Guiu

“…The 2 patients with MS and variant rs4149584 were homozygous carriers and belonged to the same family, whereas the remaining individuals presented the variant in heterozygosis. …”
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Exploring the Role of C-C Motif Chemokine Ligand-2 Single Nucleotide Polymorphism in Pulmonary Tuberculosis: A Genetic Association Study from North India by Sanjay K. Biswas, Mayank Mittal, Ekata Sinha, Vandana Singh, Nidhi Arela, Bharat Bajaj, Pramod K. Tiwari, Vishwa M. Katoch, Keshar K. Mohanty

“…Our analysis indicated that the homozygous mutant in both -2518 GG (OR=2.07, p=0.02) and -362 CC (OR=1.92, p=0.03) genotypes was associated with susceptibility to pulmonary TB. …”
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Generation and propagation of high fecundity gene edited fine wool sheep by CRISPR/Cas9 by Xuemei Zhang, Meiyu Qiu, Bing Han, Li Liao, Xinrong Peng, Jiapeng Lin, Ning Zhang, Lati Hai, Long Liang, Yila Ma, Wenrong Li, Mingjun Liu

“…Based on the six targeted founders (F0), we expanded the BMPRIB-targeted population, which included F1 heterozygous (B+) and F2 homozygous(BB) or heterozygous offspring. The average litter size of F1 ewes carrying the B + allele reached 170%, comparable to that of heterozygous native Australian Booroola sheep. …”
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Increased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutières Syndrome, AGS) and cohesinopa... by Sorina Boiu, Nikolaos Paschalidis, George Sentis, Theodora Manolakou, Andrianos Nezos, Manolis Gialitakis, Maria Grigoriou, Erato Atsali, Melpomeni Giorgi, Argirios Ntinopoulos, Clio Mavragani, Periklis Makrythanasis, Dimitrios T. Boumpas, Aggelos Banos

“…Results Next generation exome sequencing confirmed a homozygous SAMHD1 gene mutation and a hemizygous non-synonymous mutation on SMC1A gene, responsible for the AGS and CdLS, respectively. …”
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The AMD-associated genetic polymorphism CFH Y402H confers vulnerability to Hydroquinone-induced stress in iPSC-RPE cells by Angela Armento, Inga Sonntag, Ana-Cristina Almansa-Garcia, Merve Sen, Sylvia Bolz, Blanca Arango-Gonzalez, Ellen Kilger, Ruchi Sharma, Kapil Bharti, Rosario Fernandez-Godino, Berta de la Cerda, Simon J. Clark, Simon J. Clark, Simon J. Clark, Marius Ueffing

“…In our study, we examined the cell characteristics of the retinal pigment epithelium (RPE) cells, which play a major role in retinal homeostasis and stability and which are synonymously linked to AMD.MethodsHere, we employ RPE cells derived from induced pluripotent stem cells (iPSC) generated from donors, carrying either homozygous 402Y (low risk) or 402H (high risk) variants of the CFH gene. …”
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IQUB mutation induces radial spoke 1 deficiency causing asthenozoospermia with normal sperm morphology in humans and mice by Tingwenyi Hu, Xiangrong Tang, Tiechao Ruan, Shunhua Long, Guicen Liu, Jing Ma, Xueqi Li, Ruoxuan Zhang, Guoning Huang, Ying Shen, Tingting Lin

“…Results We identified a novel homozygous IQUB mutation [c.842del (p.L281Pfs*28)] in an ASZ male with normal sperm morphology (ANM), which resulted in the complete loss of IQUB in sperm flagella. …”
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Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter by Vadim Dolgin, Pauline Chabosseau, Jacob Bistritzer, Iris Noyman, Orna Staretz‐Chacham, Ohad Wormser, Noam Hadar, Marina Eskin‐Schwartz, Bibi Kanengisser‐Pines, Ginat Narkis, Ramy Abramsky, Eilon Shany, Guy A. Rutter, Kyla Marks, Ohad S. Birk

“…Notably, previous studies demonstrated osteopenia and male‐specific cardiac death in mice lacking the ZnT5/SLC30A5 zinc transporter, and suggested association of two homozygous frameshift SLC30A5 variants with perinatal mortality in humans, due to hydrops fetalis and hypertrophic cardiomyopathy. …”
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Nucleotide variation in Foxp3 gene and prognosis of bladder cancer: a case-control study by Qin Li, Yan Zhang, Yan Zhang, Min Su, Yaping Song, Yanyun Wang, Bin Zhou, Lin Zhang

“…Notably, individuals who were homozygous for the AA genotype demonstrated a markedly lower overall survival (OS) rate compared to those with the CC/CA genotypes (P = 0.03, OR = 5.89, 95%CI = 1.23-28.15), after adjusting for factors such as age, gender, smoking status, tumor grade, metastasis, and clinical stage. …”
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LRRK2 Mutations and Asian Disease-Associated Variants in the First Parkinson’s Disease Cohort from Kazakhstan by Rauan Kaiyrzhanov, Akbota Aitkulova, Chingiz Shashkin, Nazira Zharkinbekova, Mie Rizig, Elena Zholdybayeva, Zharkyn Jarmukhanov, Vadim Akhmetzhanov, Gulnaz Kaishibayeva, Talgat Khaibullin, Altynay Karimova, Serik Akshulakov, Askhat Bralov, Nurlan Kissamedenov, Zhanar Seidinova, Anjela Taskinbayeva, Aliya Muratbaikyzy, Henry Houlden

“…One early-onset PD subject was homozygous for p.Ala419Val who developed fast progression and severe dyskinesias. p.Ala419Val was associated with early-onset PD. …”
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