HLA-DQA1 05 ∞ Area

HLA-DQA1 05

Meaning

The term HLA-DQA1 05 refers to a specific genetic variant, or allele, of the Human Leukocyte Antigen (HLA) DQA1 gene, which is a critical component of the immune system. HLA genes encode proteins found on the surface of most cells, playing a pivotal role in presenting foreign and self-peptides to T-lymphocytes, thereby orchestrating immune responses and distinguishing between the body’s own cells and external threats. The ’05’ designates a particular polymorphic form of this gene, contributing to the unique immune profile of an individual.

Context

This allele resides within the Major Histocompatibility Complex (MHC) Class II region on chromosome 6, a gene cluster vital for adaptive immunity. HLA-DQA1, along with HLA-DQB1, forms the HLA-DQ heterodimer, a cell surface protein responsible for binding and presenting processed antigens to CD4+ T-helper cells. This molecular interaction is fundamental for initiating and regulating specific immune responses, ensuring the immune system effectively recognizes and targets pathogens while tolerating self-components.

Significance

The presence of the HLA-DQA1 05 allele holds considerable clinical significance, primarily due to its strong association with an increased genetic predisposition to certain autoimmune conditions, most notably Celiac Disease. While its presence does not guarantee disease development, it identifies individuals who are genetically susceptible, making it a valuable marker in diagnostic pathways. Understanding this genetic factor aids clinicians in assessing risk and guiding further investigations for immune-mediated disorders.

Mechanism

The HLA-DQA1 05 allele codes for a specific alpha chain that pairs with a beta chain, often from the HLA-DQB1 02 or 03 alleles, to form a functional HLA-DQ molecule on antigen-presenting cells. This particular molecular configuration possesses a unique binding groove that preferentially accommodates certain amino acid sequences found in gluten peptides. When these specific gluten fragments are presented to T-cells in genetically susceptible individuals, it triggers an aberrant inflammatory response, leading to the characteristic tissue damage observed in Celiac Disease.

Application

Genetic testing for the HLA-DQA1 05 allele, often performed concurrently with HLA-DQB1 02, is a well-established clinical application used to rule out Celiac Disease. A negative result for both of these alleles provides a strong indication that Celiac Disease is highly unlikely, effectively excluding the diagnosis in most cases. This genetic information assists clinicians in guiding dietary recommendations, determining the necessity of further serological testing, and planning intestinal biopsies, especially in patients presenting with ambiguous symptoms or those at high familial risk.

Metric

The detection of the HLA-DQA1 05 allele is achieved through molecular genetic testing, typically utilizing a blood sample or buccal swab as the source of DNA. Laboratory methods commonly involve Polymerase Chain Reaction (PCR) followed by high-resolution DNA sequencing or allele-specific probe hybridization. The outcome of such testing is reported qualitatively, indicating the presence or absence of the specific allele, often alongside other relevant HLA-DQ genotypes, providing a clear genetic marker for clinical interpretation.

Risk

While the HLA-DQA1 05 allele itself carries no direct physiological risk, its presence indicates a genetic susceptibility that requires careful clinical consideration. The primary risk arises from potential misinterpretation of test results, which could lead to unwarranted dietary restrictions or a delay in diagnosis if clinical symptoms are not appropriately evaluated in conjunction with genetic findings. It is crucial to remember that a positive genetic test signifies predisposition, not an active disease state, necessitating comprehensive clinical assessment and serological confirmation for accurate diagnosis and management.

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HRTioJuly 28, 2025

HLA-DQA1 05

Meaning

Context

Significance

Mechanism

Application

Metric

Risk

Can Genetic Profiling Predict Individual Responses to Peptide-Based Therapies?

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