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The Y chromosome: a blueprint for men's health?

ABSTRACT: The Y chromosome has long been considered a 'genetic wasteland' on a trajectory to completely disappear from the human genome. The perception of its physiological function was restricted to sex determination and spermatogenesis. These views have been challenged in recent times with the identification of multiple ubiquitously expressed Y-chromosome genes and the discovery of several unexpected associations between the Y chromosome, immune system and complex polygenic traits. The collected evidence suggests that the Y chromosome influences immune and inflammatory responses in men, translating into genetically programmed susceptibility to diseases with a strong immune component. Phylogenetic studies reveal that carriers of a common European lineage of the Y chromosome (haplogroup I) possess increased risk of coronary artery disease. This occurs amidst upregulation of inflammation and suppression of adaptive immunity in this Y lineage, as well as inferior outcomes in human immunodeficiency virus infection. From structural analysis and experimental data, the UTY (Ubiquitously Transcribed Tetratricopeptide Repeat Containing, Y-Linked) gene is emerging as a promising candidate underlying the associations between Y-chromosome variants and the immunity-driven susceptibility to complex disease. This review synthesises the recent structural, experimental and clinical insights into the human Y chromosome in the context of men's susceptibility to disease (with a particular emphasis on cardiovascular disease) and provides an overview of the paradigm shift in the perception of the Y chromosome.

SUBMITTER: Maan AA

PROVIDER: S-EPMC5643963 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature

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The Y chromosome: a blueprint for men's health?

Maan Akhlaq A AA Eales James J Akbarov Artur A Rowland Joshua J Xu Xiaoguang X Jobling Mark A MA Charchar Fadi J FJ Tomaszewski Maciej M

European journal of human genetics : EJHG 20170830 11

The Y chromosome has long been considered a 'genetic wasteland' on a trajectory to completely disappear from the human genome. The perception of its physiological function was restricted to sex determination and spermatogenesis. These views have been challenged in recent times with the identification of multiple ubiquitously expressed Y-chromosome genes and the discovery of several unexpected associations between the Y chromosome, immune system and complex polygenic traits. The collected evidenc ...[more]

PMID: 28853720

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Project description:BackgroundRedesigning primary health services may enhance timely and effective uptake by men. The primary aim of this study was to assess the likelihood of Australian men attending a dedicated men's health service (DMHS). The further aims were to better understand the reasons for their preferences and determine how health behaviours influence likelihood.MethodsA survey on health service use and preferences, health help-seeking behaviours, and the likelihood of attending a DMHS was administered by telephone to 1506 randomly selected men (median age 56 years, range 19-95). Likelihood of attending a DMHS was rated using a single item Likert scale where 0 was not at all likely and 10 highly likely. Respondents were classified by age (< or > = 65 years) and health status. Principal component analyses were used to define health behaviours, specifically help-seeking and delay/avoidance regarding visiting a doctor. Multivariable linear and logistic regression analyses were used to examine predictors of likelihood of attending a DMHS.ResultsThe mean likelihood of attending a DMHS was 5.8 (SD 3.3, median 6, moderate likelihood) and 21%, 26% and 23% of men rated likelihood as moderate, high and very high respectively. Being happy with their existing doctor was the most common reason (52%) for being less likely to attend a DMHS. In unadjusted analyses, younger men reported being more likely to attend a DMHS (p < 0.001) with older-sick men reporting being least likely (p < 0.001). Younger men were more likely than older men to score higher on delay/avoidance and were more likely to self-monitor. In the full model, men with current health concerns (p ≤ 0.01), who scored higher on delay/avoidance (p ≤ 0.0006), who were more likely to be information-seekers (p < 0.0001) and/or were motivated to change their health (p ≤ 0.0001) reported a higher likelihood of attending a DMHS irrespective of age and health status.ConclusionsSeventy percent of men reported a moderate or higher likelihood of attending a DMHS. As young healthy men are more likely than older men to display health behaviours that are associated with a higher likelihood of attending a DHMS, such as delay/avoidance, marketing a DMHS to such men may be of value.

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The Y chromosome: a blueprint for men's health?

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The Y chromosome: a blueprint for men's health?

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