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Linkage and association of variants in the dopamine receptor 2 gene (DRD2) with polycystic ovary syndrome
Polycystic ovarian syndrome (PCOS) is a disorder with a foundation of neuroendocrine dysfunction, characterized by increased gonadotropin-releasing...
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Clinical application of next generation sequencing-based haplotype linkage analysis in the preimplantation genetic testing for germline mosaicisms
BackgroundPreimplantation genetic testing (PGT) for monogenic disorders (PGT-M) for germline mosaicism was previously highly dependent on polymerase...
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Bone–fat linkage via interleukin-11 in response to mechanical loading
Positive regulators of bone formation, such as mechanical loading and PTH, stimulate and negative regulators, such as aging and glucocorticoid...
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The glucocorticoid receptor gene (NR3C1) is linked to and associated with polycystic ovarian syndrome in Italian families
ObjectivesComponents of the hypothalamic-pituitary axis (HPA) pathway are potential mediators of the genetic risk of polycystic ovarian syndrome...
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Identification of carrier status of Xp22.31 microdeletions associated with X-linked ichthyosis at the single-cell level using haplotype linkage analysis by karyomap**
PurposeCurrently, owing to the limitations of high-throughput sequencing depth and the allele dropout caused by the whole-genome amplification,...
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Long-read sequencing on the SMRT platform enables efficient haplotype linkage analysis in preimplantation genetic testing for β-thalassemia
PurposeThis study aimed to evaluate the value of long-read sequencing for preimplantation haplotype linkage analysis.
MethodsThe genetic material of...
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Novel corticotropin-releasing hormone receptor genes (CRHR1 and CRHR2) linkage to and association with polycystic ovary syndrome
BackgroundWomen with polycystic ovarian syndrome (PCOS) have increased hypothalamic–pituitary–adrenal (HPA) axis activation, pro-inflammatory...
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Relationship between BDNF gene polymorphisms and alcohol-related liver cirrhosis
Background and aimBrain-derived neurotrophic factor (BDNF) functions not only in the brain but also in peripheral tissues such as the liver. Genetic...
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The preimplantation genetic testing for monogenic disorders strategy for blocking the transmission of hereditary cancers through haplotype linkage analysis by karyomap**
PurposeProviding feasible preimplantation genetic testing strategies for monogenic disorders (PGT-M) for prevention and control of genetic cancers.
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Molecular phenotypic linkage between N6-methyladenosine methylation and tumor immune microenvironment in hepatocellular carcinoma
PurposeThe crucial role of N 6 -methyladenosine (m 6 A) methylation in anti-tumor immunity and immunotherapy has been broadly depicted. However, the...
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Causal linkage of presence of mutant NPM1 to efficacy of novel therapeutic agents against AML cells with mutant NPM1
In AML with NPM1 mutation causing cytoplasmic dislocation of NPM1, treatments with Menin inhibitor (MI) and standard AML chemotherapy yield complete...
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Linkage Disequilibrium Score Statistic Regression for Identifying Novel Trait Associations
Purpose of ReviewIn this paper, we review the linkage disequilibrium score regression (LDSR) statistical method for computing correlation and shared...
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Gene polymorphisms of TACR1 serve as the potential pharmacogenetic predictors of response to the neurokinin-1 receptor antagonist-based antiemetic regimens: a candidate-gene association study in breast cancer patients
PurposeThe current candidate gene association study aims to investigate tag SNPs from the TACR1 gene as pharmacogenetic predictors of response to...
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Population-Specific gene expression profiles in prostate cancer: insights from Weighted Gene Co-expression Network Analysis (WGCNA)
This study investigates the genetic factors contributing to the disparity in prostate cancer incidence and progression among African American men...
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LRP5-/6 gene polymorphisms and its association with risk of abnormal bone mass in postmenopausal women
ObjectivesTo assess LRP5-/6 gene polymorphisms and its association with risk of abnormal bone mass (ABM) in postmenopausal women.
Methods ...
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KISS1 Gene Variations and Susceptibility to Idiopathic Recurrent Pregnancy Loss
It is widely accepted that kisspeptin plays an integral role in the regulation of reproduction. Genetic variations in the KISS1 gene have been...
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LEP (G2548A-G19A) and ADIPOQ (T45G-G276T) gene polymorphisms are associated with markers for metabolic syndrome
Background and aimsThere is a link between genetics with metabolic balance and adiposity homeostasis on metabolic syndrome (MetS). Polymorphism in...
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SNP rs11185644 in RXRA gene and SNP rs2235544 in DIO1 gene predict dosage requirements in a cross-sectional sample of hypothyroid patients
Background and purposePrimary hypothyroidism due to abnormality in the thyroid gland is the most common endocrine disease The recommended starting...
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Relationships between nine neuropsychiatric disorders and cervical cancer: insights from genetics, causality and shared gene expression patterns
BackgroundNeuropsychiatric disorders and cervical cancer exert substantial influences on women’s health. Furthermore, neuropsychiatric disorders...
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SOX9 gene shows association with adolescent idiopathic scoliosis predisposition in Northwest Indians
BackgroundAdolescent idiopathic scoliosis (AIS) is a common structural deformity of the spine affecting adolescent individuals globally. The disorder...
