Association between genetic variation in the Y chromosome and hypertension in myocardial infarction patients

Related Experiment Video

Updated: Sep 20, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

Eliecer Coto García1, Pelayo González, Mónica G Castro

  • 1Genética Molecular-Instituto de Investigación Nefrológica (IRSIN-FRIAT), Hospital Central Asturias (Maternidad), 33006 Oviedo, Spain. ecoto@hcas.sespa.es

American Journal of Medical Genetics. Part A
|September 11, 2003
PubMed

Insights

A Y chromosome polymorphism (alphoid-HindIII) was not linked to blood pressure in Spanish men. However, this genetic marker was associated with an increased risk of early myocardial infarction (MI) in hypertensive patients.

Area of Science:

  • Genetics
  • Cardiovascular Disease Research
  • Human Molecular Biology

Background:

  • Cardiovascular diseases pose a significant health burden, with genetic factors on the Y chromosome potentially influencing risk.
  • Previous research suggests a link between Y chromosome single nucleotide polymorphisms (SNPs) and blood pressure regulation.

Purpose of the Study:

  • To investigate the association between two Y chromosome polymorphisms and myocardial infarction (MI) risk in men.
  • To determine if these polymorphisms correlate with blood pressure levels in a Spanish population.

Main Methods:

  • Genotyping of 208 male myocardial infarction patients (age ≤55) and 178 healthy controls for two Y-polymorphisms.
  • Comparison of allele frequencies between patient and control groups using chi-squared tests.
  • Analysis of the relationship between the alphoid-HindIII polymorphism and blood pressure measurements.

Main Results:

  • No significant difference in the frequencies of the studied Y-polymorphisms between MI patients and controls.
  • The alphoid-HindIII polymorphism showed no association with blood pressure variations in the general population.
  • Hypertensive patients exhibited a significantly higher frequency of the HindIII+ allele compared to normotensive patients (P = 0.028).

Conclusions:

  • The alphoid-HindIII polymorphism on the Y chromosome is not associated with blood pressure differences in Northern Spanish men.
  • The HindIII+ allele of the alphoid-HindIII polymorphism may increase the risk of early myocardial infarction specifically in hypertensive individuals.

Related Concept Videos

The Y Chromosome Determines Maleness02:19

The Y Chromosome Determines Maleness

The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size. Today,...
Sex-linked Disorders02:28

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.Y chromosome mutations are called “Y-linked” and only affect males since they alone carry a copy of that chromosome. Mutations to the relatively small Y chromosome can impact male sexual function and secondary sex characteristics. Y-chromosome infertility is a disorder that affects sperm...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
X and Y Chromosomes02:32

X and Y Chromosomes

Among mammals, the gender of an organism is determined by the sex chromosomes. Humans have two sex chromosomes, X and Y. Every human diploid cell has 22 pairs of autosomes and one pair of sex chromosomes. A human female has two X chromosomes, while a male has one X chromosome and one Y chromosome.
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.