Von Hippel-Lindau (VHL) inactivation in sporadic clear cell renal cancer: associations with germline VHL polymorphisms and etiologic risk factors. by Lee E Moore, Michael L Nickerson, Paul Brennan, Jorge R Toro, Erich Jaeger, Jessica Rinsky, Summer S Han, David Zaridze, Vsevolod Matveev, Vladimir Janout, Hellena Kollarova, Vladimir Bencko, Marie Navratilova, Neonilia Szeszenia-Dabrowska, Dana Mates, Laura S Schmidt, Petra Lenz, Sara Karami, W Marston Linehan, Maria Merino, Stephen Chanock, Paolo Boffetta, Wong-Ho Chow, Frederic M Waldman, Nathaniel Rothman

“…Germline VHL SNPs and a haplotype were associated with promoter hypermethylation in tumor tissue (OR = 6.10; 95% CI: 2.28-16.35, p = 3.76E-4, p-global = 8E-5). …”
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Quantile-Dependent Expressivity of Serum Uric Acid Concentrations by Paul T. Williams

“…Quantile-dependent expressivity may also explain the larger genetic effect size of an SLC2A9/PKD2/ABCG2 haplotype for high vs. low intakes of alcohol, chicken, or processed meats. …”
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Genetic Variations and mRNA Expression of NRF2 in Parkinson’s Disease by Caroline Ran, Karin Wirdefeldt, Lovisa Brodin, Mehrafarin Ramezani, Marie Westerlund, Fengqing Xiang, Anna Anvret, Thomas Willows, Olof Sydow, Anders Johansson, Dagmar Galter, Per Svenningsson, Andrea Carmine Belin

“…NRF2 has therefore been hypothesized to confer protection against Parkinson’s disease and so far an NRF2 haplotype has been reported to decrease the risk of developing disease and delay disease onset. …”
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Genetic Diversity of <i>Diaphorina citri</i> and Its Endosymbiont Across Diffusion Frontier and Epidemic Areas of Citrus Huanglongbing in China by Jin Yang, Ai-Jun Huang, Jun Zhou, Ping You, Xiang Li, Han Luo, Long Yi

“…</i> C. ruddii in different regions showed low haplotype diversity and nucleotide diversity. While the genetic variation in <i>D. citri</i> populations primarily occurred within populations, the endosymbiont showed contrasting patterns in the HLB epidemic areas. …”
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Significance of immune factors in Crohn's disease development by D. S. Stavtsev, T. A. Astrelina, O. V. Knyazev, T. V. Pukhlikova

“…It has been demonstrated, that certain HLA-haplotypes have stronger association with Crohn's disease. …”
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Influence of ABCB1 polymorphisms on aripiprazole and dehydroaripiprazole plasma concentrations by Francisco José Toja-Camba, María Vidal-Millares, María José Durán-Maseda, Gonzalo Hermelo-Vidal, Ángel Carracedo, Olalla Maroñas, Luis Ramudo-Cela, Irene Zarra-Ferro, Anxo Fernández-Ferreiro, Cristina Mondelo-García

“…Similarly, this increase is also found in C3435T with 1.4-fold and in C1236T with 1.6-fold for the same genotypes. Regarding haplotypes, significant differences were obtained between CC-GG-CC and TT-TT-TT patients, with an 87.9% higher ratio in patients with the CC-GG-CC haplotype. …”
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Constructing a potential HLA haplo-homozygous induced pluripotent stem cell haplobank using data from an umbilical cord blood bank by Ji He, Yanmin He, Qigang Zhan, Zhipan Wu, Qi Sheng, Wei Zhang, Faming Zhu

“…The analysis showed that 100 distinct HLA-A, -B, and -DRB1 and HLA-A, -B, -C, -DRB1, and -DQB1 homozygous haplotypes would cover 72.74% and 67.87% of Chinese populations, respectively, and 600 HLA-A, -B, -C, -DRB1, and -DQB1 homozygous haplotypes would cover more than 90% of Chinese populations. …”
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A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites by Yne de Vries, Nikki Lwiwski, Marieke Levitus, Bertus Kuyt, Sara J. Israels, Fré Arwert, Michel Zwaan, Cheryl R. Greenberg, Blanche P. Alter, Hans Joenje, Hanne Meijers-Heijboer

“…We also show that the Dutch and Manitoba Mennonite FANCC c.67delG patients share the same haplotype surrounding this mutation, indicating a common founder.…”
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A High-Quality Phased Genome Assembly of Stinging Nettle (<i>Urtica dioica</i> ssp. <i>dioica</i>) by Kaede Hirabayashi, Christopher R. Dumigan, Matúš Kučka, Diana M. Percy, Gea Guerriero, Quentin Cronk, Michael K. Deyholos, Marco Todesco

“…We annotated 20,333 and 20,140 genes for each haplotype, covering over 90% of the complete BUSCO genes and including two copies of a gene putatively encoding the neurotoxic peptide urthionin, which could contribute to nettle’s characteristic sting. …”
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The Association of Mitochondrial tRNACys G5783A Mutation with Major Depressive Disorder in Two Han Chinese Families by Jing P, Yu H, Sun W, Liang M, Xia T, Yang H, Chen P, Li J, Zhang X

“…The study involved detailed mitochondrial whole genome analysis, as well as phylogenetic and haplotype analyses of the probands and other family members.Results: We detailed the genetic, clinical, and molecular profiles of two Han Chinese families with MDD. …”
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Genetic Diversity and Population Structure of <i>Macrobrachium nipponense</i> Populations in the Saline–Alkaline Regions of China by Romaric Iko, Zijian Gao, Sufei Jiang, Yiwei Xiong, Wenyi Zhang, Hui Qiao, Shubo Jin, Hongtuo Fu

“…A total of 264 individuals were successfully sequenced from nine sites, including Daqing in Heilongjiang Province (HLJ), Songyuan in Jilin Province (JL), Ulanhot in the east of inner Mongolia (NMG), Jingtai in Gansu Province (GS), Dongying in Shandong Province (SD), Dongtai in Jiangsu Province (JS), Nanchang in Jiangxi province (JX), Tianjin in mainland China (TJ), and Yinchuan in Ningxia Province (NX). In addition, 89 haplotypes were defined. The haplotype diversity (<i>h</i>) and nucleotide diversity π showed remarkable genetic diversity in the JS, NX, JL, and TJ sites. …”
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Pulp stones and kidney stones-related gene: An investigation of single nucleotide polymorphisms in the gene encoding parathyroid hormone by Prescila Mota de Oliveira Kublitski, Bruna de Souza Romano, Vania Gomes Moraes, Manoel Damião Sousa-Neto, Lívia Azeredo Alves Antunes, Erika Calvano Küchler, Leonardo Santos Antunes, João Armando Brancher, Edgard Michel-Crosato, Marilisa Carneiro Leão Gabardo

“…Additionally, Fisher's exact test was used to compare the haplotype frequencies. Statistical significance was set at 5 %. …”
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Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders by Mathilde Geysens, Benjamin Huremagic, Erika Souche, Jeroen Breckpot, Koenraad Devriendt, Hilde Peeters, Griet Van Buggenhout, Hilde Van Esch, Kris Van Den Bogaert, Joris Robert Vermeesch

“…In addition, we identified all underlying pathogenic single nucleotide and structural variants and showed haplotype-aware skewed X-inactivation evaluation directs clinical interpretation. …”
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Polymorphisms in the Glucagon-Like Peptide 1 Receptor (GLP-1R) Gene Are Associated with the Risk of Coronary Artery Disease in Chinese Han Patients with Type 2 Diabetes Mellitus: A... by Xiaowei Ma, Ran Lu, Nan Gu, Xiaowei Wei, Ge Bai, Jianwei Zhang, Ruifen Deng, Nan Feng, Jianping Li, Xiaohui Guo

“…This case-controlled study investigated whether polymorphisms in the GLP-1R gene affect the risk of cardiovascular disease in type 2 diabetic patients in the Chinese Han population. Methods. Eleven haplotype-tagging single nucleotide polymorphisms (SNPs), distributed across 22 kb of the 39 kb GLP-1R gene, were selected and genotyped in diabetic patients from a Chinese Han population. …”
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Effect of NAM-1 genes on the protein content in grain and productivity indices in common wheat lines with foreign genetic material introgressions in the conditions of Belarus by O. A. Orlovskaya, S. I. Vakula, K. K. Yatsevich, L. V. Khotyleva, A. V. Kilchevsky

“…The genotypes combining the NAM-A1d haplotype and a functional NAM-B1 allele demonstrated high levels of productivity and grain protein content. …”
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Genomic Insights into Blood Pressure Regulation: Exploring Ion Channel and Transporter Gene Variations in Jordanian Hypertensive Individuals by Mansour Abdullah Alghamdi, Laith AL-Eitan, Rasheed Ibdah, Islam Bani Khalid, Salma Darabseh, Maryam Alasmar, Asaad Ataa

“…The genetic distribution of the polymorphisms was analyzed. The haplotype frequencies were investigated using the SNPStats web tool, and the genotype and allele frequencies of the studied variants were assessed using the χ² test. …”
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Genome-wide association analysis and KASP markers development for protein quality traits in winter wheat by Yousheng Tian, Pengpeng Liu, Dezhen Kong, Yingbin Nie, Hongjun Xu, Xinnian Han, Wei Sang, Weihua Li

“…Accessions with superior haplotypes showed a significantly higher gluten index than those with inferior haplotypes. …”
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Polymorphisms of Vitamin D Signaling Pathway Genes and Calcium-Sensing Receptor Gene in respect to Survival of Hemodialysis Patients: A Prospective Observational Study by Alicja E. Grzegorzewska, Monika K. Świderska, Adrianna Mostowska, Wojciech Warchoł, Paweł P. Jagodziński

“…Dyslipidemics showed higher frequency of rs1544410_rs2228570 haplotype AC than nondyslipidemics (26 versus 18%, Pcorr=0.005), whereas TT genotype patients were at lower risk of dyslipidemia compared with CC/CT genotype patients (HR 0.59, 95% CI 0.37–0.96, P=0.04). …”
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CD40 Gene Polymorphisms Associated with Susceptibility and Coronary Artery Lesions of Kawasaki Disease in the Taiwanese Population by Ho-Chang Kuo, Mei-Chyn Chao, Yu-Wen Hsu, Ying-Chi Lin, Ying-Hsien Huang, Hong-Ren Yu, Ming-Feng Hou, Chi-Di Liang, Kuender D. Yang, Wei-Chiao Chang, Chih-Lu Wang

“…In KD patients, polymorphisms of CD40 (rs4810485) showed significant association with CAL formation (P=0.0436, recessive model). Haplotype analysis did not yield more significant results between polymorphisms of CD40 and susceptibility/disease activity of KD. …”
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Polymorphism of genes associated with infectious lung diseases in Northern Asian populations and in patients with community-acquired pneumonia by S. V. Mikhailova, L. V. Shcherbakova, N. I. Logvinenko, I. I. Logvinenko, M. I. Voevoda

“…It has also been reported that rs10902158 at the PKP3-SIGGIR-TMEM16J genetic locus belongs to a haplotype race-specifically associated with tuberculosis. …”
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