Tyrosine Hydroxylase <scp>TH</scp>01 9.3 Allele in the Occurrence of Sudden Infant Death Syndrome in Swiss Caucasians

Studer, Jacqueline; Bärtsch, Christine; Haas, Cordula

doi:10.1111/1556-4029.12526

Cited by 5 publications

(4 citation statements)

References 27 publications

(45 reference statements)

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“…This association was further confirmed by Courts and Madea (2011). On the contrary, Studer et al (2014) were unable to replicate this result in a Swiss population. Further population-based association studies are needed to confirm the existence of associations between TH01 and these phenotypes.…”

Section: Th01mentioning

confidence: 89%

Forensic Autosomal Short Tandem Repeats and Their Potential Association With Phenotype

2020

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Forensic DNA profiling utilizes autosomal short tandem repeat (STR) markers to establish identity of missing persons, confirm familial relations, and link persons of interest to crime scenes. It is a widely accepted notion that genetic markers used in forensic applications are not predictive of phenotype. At present, there has been no demonstration of forensic STR variants directly causing or predicting disease. Such a demonstration would have many legal and ethical implications. For example, is there a duty to inform a DNA donor if a medical condition is discovered during routine analysis of their sample? In this review, we evaluate the possibility that forensic STRs could provide information beyond mere identity. An extensive search of the literature returned 107 articles associating a forensic STR with a trait. A total of 57 of these studies met our inclusion criteria: a reported link between a STR-inclusive gene and a phenotype and a statistical analysis reporting a p-value less than 0.05. A total of 50 unique traits were associated with the 24 markers included in the 57 studies. TH01 had the greatest number of associations with 27 traits reportedly linked to 40 different genotypes. Five of the articles associated TH01 with schizophrenia. None of the associations found were independently causative or predictive of disease. Regardless, the likelihood of identifying significant associations is increasing as the function of non-coding STRs in gene expression is steadily revealed. It is recommended that regular reviews take place in order to remain aware of future studies that identify a functional role for any forensic STRs.

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Section: Th01mentioning

confidence: 89%

Forensic Autosomal Short Tandem Repeats and Their Potential Association With Phenotype

2020

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“…Interestingly, TH01-9.3 frequency was the highest in Switzerland [38], a country where CVD accounts for 35% of total deaths [78,79]. On the other hand, the frequency of TH01-10 (0.1946) was the highest in Venezuela [46], where CVD contributes to 17.07% of total deaths in the country [80].…”

Section: Th01mentioning

confidence: 99%

“…Furthermore, TH01, a marker located in 11p15.5, specifically in intron 1 of the human tyrosine hydroxylase gene, has been associated with various neurological, psychiatric, and cardiovascular diseases [26]. For example, TH01-9.3 was the most frequent allele observed in sudden infant death syndrome (SIDS) [38].…”

Section: Introductionmentioning

confidence: 99%

The Autosomal Short Tandem Repeat Polymorphisms Are Potentially Associated with Cardiovascular Disease Predisposition in the Latin American Population: A Mini Review

Zambrano,

Cadena-Ullauri,

Guevara-Ramírez

et al. 2023

BioMed Research International

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According to the World Health Organization, cardiovascular diseases (CVDs) are the leading cause of death worldwide across nearly all ethnic groups. Inherited cardiac conditions comprise a wide spectrum of diseases that affect the heart, including abnormal structural features and functional impairments. In Latin America, CVDs are the leading cause of death within the region. Factors such as population aging, unhealthy diet, obesity, smoking, and a sedentary lifestyle have increased the risk of CVD. The Latin American population is characterized by its diverse ethnic composition with varying percentages of each ancestral component (African, European, and Native American ancestry). Short tandem repeats (STRs) are DNA sequences with 2-6 base pair repetitions and constitute ~3% of the human genome. Importantly, significant allele frequency variations exist between different populations. While studies have described that STRs are in noncoding regions of the DNA, increasing evidence suggests that simple sequence repeat variations may be critical for proper gene activity and regulation. Furthermore, several STRs have been identified as potential disease predisposition markers. The present review is aimed at comparing and describing the frequencies of autosomal STR polymorphisms potentially associated with cardiovascular disease predisposition in Latin America compared with other populations.

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“…An infection combined with a prone sleeping position and elevated room temperature could lead to SIDS, whereas in other circumstances, low birth weight, cigarette smoke, prone sleeping position, and altitude could result in CDF and SIDS. The SIDS–CDF hypothesis also posits that SIDS does not have a congenital or genetic origin, and that efforts to identify significant genetic anomalies in SIDS victims are unlikely to be successful (8–11). …”

mentioning

confidence: 99%

SIDS–CDF Hypothesis Revisited: Cause vs. Contributing Factors

Siren¹

2017

Front. Neurol.

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The sudden infant death syndrome (SIDS)–critical diaphragm failure (CDF) hypothesis was first published by Siren and Siren in 2011 (1). Since its publication, the hypothesis has continued to generate interest and several colleagues have contributed perspectives and insights to it (2–5). The basic premise of the hypothesis is that the diaphragm is a vital organ that must continuously generate adequate force to maintain ventilation, and that CDF is a terminal event and the cause of death in SIDS. I have argued in two follow-up articles that all SIDS factors either increase the workload of the respiratory muscles, the diaphragm being the primary muscle affected, or reduce its force generating capacity (6, 7). The SIDS–CDF hypothesis posits that SIDS has many contributing factors but only one cause, namely, the failure of the vital respiratory pump. There are several known SIDS factors, such as the prone sleeping position, non-lethal infections, deep sleep, gestational prematurity, low birth weight, cigarette smoke, male gender, and altitude, but of these, some such as the prone sleeping position more significantly both impact diaphragm function and correlate with SIDS. However, SIDS cases are multifactorial and as such can be caused by different combinations of factors. An infection combined with a prone sleeping position and elevated room temperature could lead to SIDS, whereas in other circumstances, low birth weight, cigarette smoke, prone sleeping position, and altitude could result in CDF and SIDS. The SIDS–CDF hypothesis also posits that SIDS does not have a congenital or genetic origin, and that efforts to identify significant genetic anomalies in SIDS victims are unlikely to be successful (8–11).

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Tyrosine Hydroxylase TH01 9.3 Allele in the Occurrence of Sudden Infant Death Syndrome in Swiss Caucasians

Cited by 5 publications

References 27 publications

Forensic Autosomal Short Tandem Repeats and Their Potential Association With Phenotype

Forensic Autosomal Short Tandem Repeats and Their Potential Association With Phenotype

The Autosomal Short Tandem Repeat Polymorphisms Are Potentially Associated with Cardiovascular Disease Predisposition in the Latin American Population: A Mini Review

SIDS–CDF Hypothesis Revisited: Cause vs. Contributing Factors

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