GATA4 specific nonsynonymous single-nucleotide polymorphisms in congenital heart disease patients of Mysore, India.

Congenital heart disease (CHD) is the most common type of birth defect, affecting 1% of all live births. The recent exponential increase in the knowledge of medical genetics has revolutionized the understanding of CHDs during the past few decades. GATA4, a transcription factor, is involved in heart development.

A maiden report on CRELD1 single-nucleotide polymorphism association in congenital heart disease patients of Mysore, South India.

Cardiac malformations contribute greatly to cardiovascular disease in the young, constituting a major portion of clinically significant birth defects. Congenital heart disease (CHD) is a common congenital cardiac birth defect, affecting nearly 1% of all live births. Although significant advances have been made in understanding mechanisms controlling heart formation, the causes of most CHD in humans remain undefined in the vast majority of cases.

Inheritance patterns, consanguinity & risk for asthma.

Background & Objectives: Family history is an important risk factor for the development of asthma, contingent upon genetic and environment interaction. Since there is paucity of data on asthma inheritance in Indian population, the present study was undertaken to investigate the inheritance patterns of asthma and the effect of family history and consanguineous marriage on asthma inheritance.

Methods: A total of 200 families, 100 index children and 100 index adults with clinically diagnosed asthma, along with 400 non-asthmatic children and adults as controls were selected for the present study.

Association of IL-4 and ADAM33 gene polymorphisms with asthma in an Indian population.

There are more than 100 candidate genes of asthma located on 23 human chromosomes. Interleukin-4 (IL-4), located on chromosome 5q31, and ADAM33, located on chromosome 20p13, and some single nucleotide polymorphisms (SNPs) of these genes have been shown to be associated with asthma and its manifestations in different populations. The most prominent SNPs of IL-4 and ADAM33 are 589C>T and 400A>G, respectively.

Lack of association between asthma and ABO blood group.

ABO is the most important blood group system in transfusion and transplantation practices. Glycosyltransferases are controlled by the ABO system which is helpful in building oligosaccharide structures on the cell surface of erythrocytes and vascular endothelium and in the exocrine secretion system, including the respiratory tract. We analyzed the ABO blood group of 200 children and adults with asthma as well as that of 2000 healthy subjects as controls.

Soluble intercellular adhesion molecule-1 and E-selectin in patients with asthma exacerbation.

Soluble intercellular adhesion molecule-1 (sICAM-1) and soluble E-selectin (sE-selectin) are important factors in immunological processes of inflammatory cell buildup in target tissues. Studies have suggested that these molecules could be important markers of inflammatory diseases. This study was undertaken to assess the levels of sICAM-1 and sE-selectin during an acute attack of asthma in adults and children and to establish normal values (95th percentile) in healthy control subjects.

Missense mutation G296S in GATA4 is not responsible for cardiac septal defects.

Background: The most common type of congenital heart disease is the cardiac septal defects, which has reported to be caused by a missense mutation (G296S) in exon 3 of the GATA4 gene.

Aims: The present study was undertaken to find out whether GATA4 gene is the prime cause of the septal defects in Mysore population.

Materials And Methods: GATA4 gene analyses were undertaken on 21 confirmed CHD cases by PCR and DNA sequencing.

De novo isochromosome 18p in a female dysmorphic child.

Isochromosome 18p results in tetrasomy 18p. Most of the i(18p) cases reported so far in the literature are sporadic due to de novo formation, while familial and mosaic cases are infrequent. It is a rare chromosomal abnormality, occurring once in every 140,000 livebirths, affecting males and females equally.