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Related Concept Videos

Pleiotropy01:33

Pleiotropy

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Factors Influencing Drug Absorption: Disease States and Pharmacology01:25

Factors Influencing Drug Absorption: Disease States and Pharmacology

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Multiple disease states can significantly influence the oral drug absorption process by affecting blood flow and the functionality of the gastrointestinal (GI) system. Various GI diseases, including conditions that alter GI motility, such as diarrhea, decreased acid secretions (achlorhydria), and infections, have been associated with reduced drug absorption.
Substances such as alcohol and specific drugs, including antineoplastics, can also negatively impact drug absorption. For instance,...
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Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

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Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
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Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters01:16

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

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The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...
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Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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Inflammatory Bowel Disease III: Crohn's Disease01:25

Inflammatory Bowel Disease III: Crohn's Disease

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Crohn’s disease is a chronic, relapsing form of inflammatory bowel disease characterized by segmental, transmural inflammation that can affect any part of the gastrointestinal tract. Its pathogenesis arises from a combination of genetic susceptibility, environmental exposures, epithelial barrier dysfunction, and immune dysregulation. Together, these factors lead to an exaggerated immune response against components of the gut microbiome.Genetic and Environmental InfluencesMultiple genetic...
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Related Experiment Video

Updated: May 3, 2026

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
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Genetic influences on splenic function in coeliac disease.

J G O'Grady, F M Stevens, C F McCarthy

    Gut
    |October 1, 1985
    PubMed
    Summary

    Splenic function, measured by pitted erythrocyte counts, is altered in some relatives of celiac disease patients. This suggests a genetic factor, not HLA-linked, influences spleen function in celiac disease inheritance.

    Area of Science:

    • Immunology
    • Genetics
    • Gastroenterology

    Background:

    • Celiac disease is an autoimmune disorder triggered by gluten ingestion.
    • Splenic function plays a role in immune surveillance and red blood cell turnover.
    • Altered splenic function has been observed in various autoimmune conditions.

    Purpose of the Study:

    • To investigate splenic function in first-degree relatives of celiac disease patients.
    • To determine if altered splenic function is inherited within families affected by celiac disease.
    • To explore the genetic basis of splenic dysfunction in celiac disease.

    Main Methods:

    • Assessed splenic function using 'pitted' erythrocyte counts.
    • Studied 61 first-degree relatives (parents, siblings, children) of celiac disease patients.

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  • Compared 'pitted' erythrocyte counts between relatives, celiac patients, and healthy controls.

    • Main Results:

    • Raised 'pitted' erythrocyte counts were found in 20% of siblings and/or children of celiac patients.
    • First-degree relatives exhibited higher 'pitted' erythrocyte counts than normal controls (p = 0.002).
    • Counts were lower in celiac relatives than in age-matched celiac patients, but similar to celiacs with normal mucosa.

    Conclusions:

    • Splenic function, indicated by 'pitted' erythrocyte counts, is frequently abnormal in first-degree relatives of celiac disease patients.
    • A familial pattern of altered splenic function suggests a genetic influence.
    • This genetic factor is likely not HLA-linked but associated with a separate, possibly recessive, gene involved in celiac disease inheritance.