# Phenotypic and Molecular Signatures for Sleep Apnea and Related Morbidities

> **NIH NIH R35** · BRIGHAM AND WOMEN'S HOSPITAL · 2021 · $1,046,382

## Abstract

I have over 25 years of experience in sleep medicine epidemiological research and have played a leading role
in studies that address the contributions of genetic, social and environmental risk factors to sleep disorders, the
influences of sleep on health outcomes in children and adults, and the role of sleep interventions in improving
health outcomes. My collaborators, mentees and I have identified that sleep apnea (SA) is highly prevalent,
disproportionately affects Asians and African American children, and is associated with significantly increased
risks for developing hypertension, stroke, heart failure, diabetes, and behavioral problems. We also have
identified variability in these outcomes by sex, race/ethnicity, age, and genetic background. We have
characterized the patterns of heritability for several SDB traits and through use of family-based and cohort
studies (>20,000 individuals) have identified genome-wide significant associations for genetic variants in
biological candidate genes, and sex- and sleep stage-specific analyses have provided insight into mechanisms
that may explain the known sex and REM/NREM differences in SA severity. Despite this progress, however,
the underlying molecular and physiological mechanisms for SA are not well understood, limiting both our ability
to predict which patients with SA are most vulnerable to adverse health outcomes and our ability to develop
treatments that reflect individual differences in SDB pathophysiology. Our emerging data suggest that these
gaps may be overcome through systematic analysis of larger sets of polysomnography data, deriving more
precise SDB phenotypes that reflect specific sleep and respiratory patterns, and linking these phenotypes to
genomic and clinical data. Through leadership in multiple national consortia and multi-center studies we are
poised to make transformative advances in understanding the phenotypic variability and genetics of sleep apnea
and related traits. We plan to harness a critical mass of data, including those in the National Sleep Research
Resource and genetic, genomic and clinical data available through several consortia, including the Trans-
Omics in Precision Medicine and Partners HealthCare Biobank. We will expand our genetics/epidemiology
team with leaders in sophisticated respiratory phenotyping, developing a multi-disciplinary program that will
systematically extract quantitative metrics of SA phenotypes and link these to genetics, genomics, specific
treatment responsiveness, and cardiovascular, metabolic and cognitive outcomes. Through collaborations with
functional genomics laboratories, we will help identify functional genetic variants and clarify the function of
genes and pathways associated with SA. We will use sophisticated statistical methods to derive and validate
personalized medicine prediction algorithms based on these data streams. This enhanced biological
understanding of SA will be translated into improved clinical care through better-i...

## Key facts

- **NIH application ID:** 10130597
- **Project number:** 5R35HL135818-05
- **Recipient organization:** BRIGHAM AND WOMEN'S HOSPITAL
- **Principal Investigator:** Susan S. Redline
- **Activity code:** R35 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $1,046,382
- **Award type:** 5
- **Project period:** 2017-01-01 → 2023-12-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10130597

## Citation

> US National Institutes of Health, RePORTER application 10130597, Phenotypic and Molecular Signatures for Sleep Apnea and Related Morbidities (5R35HL135818-05). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10130597. Licensed CC0.

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