Association of vitamin D receptor gene polymorphisms with rheumatoid arthritis by Noelia Marquez Pete, Cristina Perez Ramirez, Maria del Mar Maldonado Montoro, Fernando Martinez Martinez, Fernando Fernández-Llimos, Antonio Sánchez Pozo, María del Carmen Ramirez Tortosa, Alberto Jiménez Morales

“…Among our patients we found no influence of VDR BsmI, TaqI, ApaI and Cdx2 on the risk of developing RA. However, haplotype analysis indicated that the haplotypes ACGAG and GTGCA were associated with higher risk of RA.…”
Get full text

Differential HLA Association of GAD65 and IA2 Autoantibodies in North Indian Type 1 Diabetes Patients by Neihenuo Chuzho, Neeraj Kumar, Neetu Mishra, Nikhil Tandon, Uma Kanga, Gurvinder Kaur, Paras Singh, Gunja Mishra, Shreya Sharma, Narinder K. Mehra

“…Similarly, HLA-DRB1∗04-DQB1∗03 haplotype was found to be significantly increased in IA2A+ T1D patients compared to IA2A– patients (22.5% vs. 12.97%; P=0.041; OR=1.95; 95%CI=1.08-3.52). …”
Get full text

Evaluation of Human Leukocyte Antigen Class I and Class II in End-Stage Renal Disease Occurrence in Indonesian Transplantation Patients by Hani Susianti, Dwi Priyadi Djatmiko, I Komang Adi Widana, Deasy Ayuningtyas Tandio, Catur Suci Sutrisnani, Singgih Pudjo Wahono, Ira Puspitawati

“…HLA typing was determined using Luminex techniques. The allele and haplotype frequencies were compared between ESRD patients and controls. …”
Get full text

The Spectrum of Fundus Autofluorescence Findings in Birdshot Chorioretinopathy by GianPaolo Giuliari, David M. Hinkle, C. Stephen Foster

“…The data obtained included age, gender, presence of the HLA-A29 haplotype, and current treatment. Results. Eighteen eyes with HLA-A29 associated BSCR were included. …”
Get full text

The role of inflammatory system genes in individual differences in nonverbal intelligence by R. F. Enikeeva, A. V. Kazantseva, Yu. D. Davydova, R. N. Mustafin, Z. R. Takhirova, S. B. Malykh, Y. V. Kovas, E. K. Khusnutdinova

“…As a result of a statistical analysis, rs1041981 and rs1800629 in the tumor necrosis factor gene (TNF) were shown to be associated with a phenotypic variance in nonverbal intelligence at the haplotype level (for АА-haplotype: βST = 1.19; p = 0.033; pperm = 0.047) in carriers of the “risky” APOE ε4 allele. …”
Get full text

GmERF57 negatively regulates root development and phosphate absorption in soybean by Hongqing Zhu, Dandan Hu, Yifei Yang, Xuhao Zhai, Shanshan Zhang, Mengshi He, Huifang Zuo, Lina Zhang, Mengjun Xu, Shanshan Chu, Haiyan Lü, Hengyou Zhang, Yu Zhang, Dan Zhang

“…Overall, the results identified GmERF57 as a QTL gene associated with LP tolerance, elucidated its role in regulating LP tolerance, and further identified an optimal haplotype to facilitate breeding of LP-tolerant soybean cultivars.…”
Get full text

Sequencing and annotation of the complete mitochondrial genome of a threatened labeonine fish, by Mohammad Nazrul Islam, Shirin Sultana, Md. Jobaidul Alam

“…MN862482) showed 99.96% identity to another haplotype of Cirrhinus reba (AP013325), followed by 90.18% identity with Labeo bata (AP011198).…”
Get full text

Genotype-Based Bayesian Analysis of Gene-Environment Interactions with Multiple Genetic Markers and Misclassification in Environmental Factors by Iryna Lobach, Ruzong Fan

“…Since our approach is genotype based, it allows the observed genetic information to enter the model directly thus eliminating the need to infer haplotype phase and simplifying computations. Bayesian approach allows shrinking parameter estimates towards prior distribution to improve estimation and inference when environmental factors are subject to misclassification. …”
Get full text

T-cell receptor beta variable gene polymorphism predicts immune-related adverse events during checkpoint blockade immunotherapy by Linghua Wang, Siqing Fu, Aung Naing, Funda Meric-Bernstam, Carl Morrison, Joud Hajjar, Mingxuan Xu, Anas Alshawa, Bettzy Stephen, Ying Yuan, Jordi Rodon Ahnert, Abdulrazzak Zarifa, Shrutii Sarda, Timothy Looney, Sapna P Patel, Geoffrey M Lowman, Dzifa Yawa Duose, Jeffrey M Conroy, Evan Kwiatkowski

“…By using principal component analysis of the 81 TRBV allele profiles followed by k-means clustering, we identified six major TRBV haplotypes. Strikingly, we found that one-third of this cohort possessed a TRBV allele haplotype that appeared to be protective against severe irAEs.Conclusion The data suggest that long-amplicon TCRB repertoire sequencing can potentially identify TRBV haplotype groups that correlate with the risk of severe irAEs. …”
Get full text

Genetic Basis of Sjögren's Syndrome. How Strong is the Evidence? by Juan-Manuel Anaya, Angélica María Delgado-Vega, John Castiblanco

“…In the absence of chromosomal regions identified by linkage studies, research has focused on candidate gene approaches (by biological plausibility) rather than on positional approaches. Ancestral haplotype 8.1 as well as TNF, IL10 and SSA1 loci have been consistently associated with the disease although they are not specific for SS. …”
Get full text

Genetic Vectors as a Tool in Association Studies: Definitions and Application for Study of Rheumatoid Arthritis by Igor Sandalov, Leonid Padyukov

“…This consolidation of genotypes into GVs provides integration of multiple genetic variants for a single statistical test and excludes ambiguity of biological interpretation known for allele and haplotype associations. We analyzed two independent cohorts, with 2633 rheumatoid arthritis cases and 2108 healthy controls, and data for 6 SNPs from the HTR2A locus plus shared epitope allele. …”
Get full text

A Case of Familial Mediterranean Fever with Extensive Lymphadenopathy and Complex Heterozygous Genotype Presenting in the Fourth Decade by Jawad Al-Khafaji, Fran Ganz-Lord, Venkata Rajesh Konjeti, Aaron D. Viny

“…Genetic investigation of the patient’s mother identified a novel carrier haplotype E148Q/P369S. The proband also inherited the previously described and rare A744S mutation previously not thought to be a disease-defining lesion. …”
Get full text

The Effect of Continuous Selection in KiwiCross^® Composite Breed on Breed Ancestry and Productivity Performance by Mohd Jaafar, Bevin Harris, Heather J. Huson

“…Breeders must recognize that selection for specific traits can alter allele frequencies and lead to the loss of beneficial breed-specific haplotypes over time.…”
Get full text

A new name for an old problem—Colletotrichum cigarro is the cause of St John’s wilt of Hypericum perforatum by Lana-Sophie Kreth, Ulrike Damm, Monika Götz

“…Although they belonged to the same haplotype, the morphology of the isolates was very variable. …”
Get full text

The Impact of PPARγ Genetic Variants on IBD Susceptibility and IBD Disease Course by Jessica Mwinyi, Christa Grete-Wenger, Jyrki J. Eloranta, Gerd A. Kullak-Ublick

“…Two variants with allelic frequencies over 1% were included in haplotype/diplotype analyses. None of the NR3C1 haplotypes showed association with IBD development or disease course. …”
Get full text

Renin-Angiotensin System Gene Variants and Type 2 Diabetes Mellitus: Influence of Angiotensinogen by Siew Mei Joyce-Tan, Shamsul Mohd Zain, Munavvar Zubaid Abdul Sattar, Nor Azizan Abdullah

“…There were significant differences in allele frequencies between cases and controls for AGT variants (P=0.05) but not for ACE and AGTR1. Haplotype TCG of the AGT was associated with increased risk of T2DM (OR 1.92, 95% CI 1.15–3.20, permuted P=0.012); however, no evidence of significant gene-gene interactions was seen. …”
Get full text

Associations between Extracellular Matrix Protein 1 Gene Polymorphism and Progression of Liver Disease by Xiuting He, Ting Liu, Rui Zhang, Xu Li

“…After adjustment for age, sex, smoking status, and drinking habits, the GT genotype was dramatically related to a reduced risk of chronic HBV infection in both non-HCC (OR = 0.68, 95% CI: 0.49-0.94) and total chronic HBV infection patients (OR = 0.75, 95% CI: 0.56-1.00). Haplotype analyses revealed twelve protective haplotypes against total chronic HBV infection and four against non-HCC chronic HBV infection. …”
Get full text

Massively parallel variant-to-function mapping determines functional regulatory variants of non-small cell lung cancer by Congcong Chen, Yang Li, Yayun Gu, Qiqi Zhai, Songwei Guo, Jun Xiang, Yuan Xie, Mingxing An, Chenmeijie Li, Na Qin, Yanan Shi, Liu Yang, Jun Zhou, Xianfeng Xu, Ziye Xu, Kai Wang, Meng Zhu, Yue Jiang, Yuanlin He, Jing Xu, Rong Yin, Liang Chen, Lin Xu, Juncheng Dai, Guangfu Jin, Zhibin Hu, Cheng Wang, Hongxia Ma, Hongbing Shen

“…Accordingly, we proposed three genetic architectures underlying NSCLC susceptibility: multiple causal variants in a single haplotype block (e.g. 4q22.1), multiple causal variants in multiple haplotype blocks (e.g. 5p15.33), and a single causal variant (e.g. 20q11.23). …”
Get full text

Dissection of the genetic loci for grain hardness and variation of the key genes in common wheat (Triticum aestivum L.) by Jinna Hou, Pengge Sun, Pei Yan, Shenghui Geng, Wenxu Li, Maomao Qin, Ziju Dai, Baoming Tian, Zhengqing Wu, Zhengfu Zhou, Changwen Li, Zhensheng Lei

“…Totally, six haplotypes were identified and among them the haplotypes Pina-D1a/PinbD1b (56.77 %) and Pina-Dla/Pinb-D1a (31.25 %) accounted for the highest proportion. …”
Get full text

Upregulation of Soluble HLA-G in Chronic Left Ventricular Systolic Dysfunction by Line Lisbeth Olesen, Thomas Vauvert F. Hviid

“…A novel finding was that a combined 14 bp ins-del/+3142 SNP HLA-G haplotype was associated with EF < 40%.…”
Get full text