Gender Phenotyping of Patients with Obstructive Sleep Apnea Syndrome Using a Network Science Approach

Abstract

We defined gender-specific phenotypes for men and women diagnosed with obstructive sleep apnea syndrome (OSAS) based on easy-to-measure anthropometric parameters, using a network science approach. We collected data from 2796 consecutive patients since 2005, from 4 sleep laboratories in Western Romania, recording sleep, breathing, and anthropometric measurements. For both genders, we created specific apnea patient networks defined by patient compatibility relationships in terms of age, body mass index (BMI), neck circumference (NC), blood pressure (BP), and Epworth sleepiness score (ESS). We classified the patients with clustering algorithms, then statistically analyzed the groups/clusters. Our study uncovered eight phenotypes for each gender. We found that all males with OSAS have a large NC, followed by daytime sleepiness and high BP or obesity. Furthermore, all unique female phenotypes have high BP, followed by obesity and sleepiness. We uncovered gender-related differences in terms of associated OSAS parameters. In males, we defined the pattern large NC-sleepiness-high BP as an OSAS predictor, while in women, we found the pattern of high BP-obesity-sleepiness. These insights are useful for increasing awareness, improving diagnosis, and treatment response.

Keywords: comorbidities; gender phenotyping; network medicine; obstructive sleep apnea syndrome.

Figure 1

Male and female patient network phenotypes: (a) MPN with N = 1948 patients and 8 phenotypes; (b) FPN with N = 848 patients and 8 phenotypes.

Figure 2

Mapping of obstructive sleep apnea syndrome(OSAS) parameter classes on the MPN and FPN, where ellipses mark each of the eight defined phenotypes, for identifying: (A,E) Hypertension (HT) presence; (B,F) Thick neck (TN) presence; (C,G) Obesity presence; (D,H) Daytime sleepiness presence in males/females.

Figure 3

Gender phenotypes comparison: (a) Male and female phenotypes described by the four main parameter classes (red–sick, above-high threshold; pink–moderately sick, above-normal threshold; green–healthy, below-normal threshold), and OSAS prevalence (as a percentage); (b) Association of parameter classes for the two genders (males–blue, females–red); the upper panel represents overlapping phenotypes, while the lower panel represents gender-specific phenotypes.