Related Experiment Video
Updated: Nov 12, 2025
08:44
Identification and Characterization of Immunogenic RNA Species in HDM Allergens that Modulate Eosinophilic Lung Inflammation
Published on: May 30, 2020
6.3K
Variants associated with HHIP expression have sex-differential effects on lung function.
Katherine A Fawcett1, Ma'en Obeidat2, Carl Melbourne1
1Department of Health Sciences, University of Leicester, Leicester, LE1 7RH, UK.
Wellcome Open Research
|June 7, 2021
Summary
This study identified genetic variations that affect lung function differently in males and females, highlighting the role of the HHIP gene in sex-specific lung health. Understanding these genetic differences is crucial for both sexes.
Area of Science:
- Genetics
- Pulmonology
- Human Biology
Background:
- Lung function exhibits significant heritability and sex-based differences throughout life.
- Limited knowledge exists regarding sex-specific genetic influences on lung function.
- This study addresses the gap by investigating genotype-by-sex interactions in lung function.
Purpose of the Study:
- To conduct the first genome-wide genotype-by-sex interaction study on lung function.
- To identify genetic variants with differential effects on lung function between males and females.
- To explore the role of the HHIP gene in sex-specific lung function.
Main Methods:
- Utilized UK Biobank data (N=303,612) to test interactions between millions of genetic variants and sex on spirometry measures.
- Replicated findings in an independent cohort (SpiroMeta, N=75,696).
- Investigated the association of identified SNPs with height, smoking, pubertal age, and HHIP gene expression.
Main Results:
- Identified five genome-wide significant and 21 suggestive SNPs interacting with sex on lung function.
- The strongest signal, rs7697189 near HHIP, showed a significant sex-differential effect on forced expiratory volume in 1 second (FEV1).
- rs7697189's effect on FEV1 was greater in males than females, independent of height, smoking, or pubertal age. HHIP expression also differed significantly between sexes.
Conclusions:
- Discovered a novel genotype-by-sex interaction upstream of the HHIP gene.
- The mechanism underlying sex-differential effects of HHIP SNPs on lung function requires further investigation.
- Understanding these sex-specific genetic mechanisms is vital for advancing lung health and disease management in both males and females.
Related Concept Videos
02:33Hedgehog Signaling Pathway
7.9K
The Hedgehog gene (Hh) was first discovered due to its control of the growth of disorganized, hair-like bristles phenotype in Drosophila, much like hedgehog spines. Hh plays a crucial role in the development of organs and the maintenance of homeostasis in both invertebrates and vertebrates. However, while Drosophila has only one Hh protein, mammals have multiple functional Hedgehog proteins - Sonic (Shh), Desert (Dhh), and Indian Hedgehog (Ihh). All of these homologous proteins have adapted to...
7.9K
02:27Background and Environment Affect Phenotype
7.0K
Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
7.0K
02:30Genomic Imprinting and Inheritance
36.0K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
36.0K
01:33Pleiotropy
42.0K
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,...
42.0K
02:45The Ratio of X Chromosome to Autosomes
9.1K
In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...
9.1K
02:50Dosage Compensation
6.6K
In animals, gender is determined by the number and type of sex chromosome. For example, human females have two X chromosomes, and males have one X and one Y chromosome, whereas C.elegans with one X chromosome is a male, and the one with two X chromosomes is a hermaphrodite.
In addition to sexual development, the X chromosome has genes involved in autosomal functions such as brain development and the immune system. Therefore, males and females with distinct numbers of X chromosomes will...
In addition to sexual development, the X chromosome has genes involved in autosomal functions such as brain development and the immune system. Therefore, males and females with distinct numbers of X chromosomes will...
6.6K