Rare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom

Figures

• 

  Figure 1. Age distribution at genetic testing in each group. FCS, Familial chylomicronemia syndrome; MCS, multifactorial chylomicronemia syndrome.

• 

  Figure 2. Genetic spectrum of FCS and relative proportion of individual genotypes in the whole FCS cohort. FCS, Familial chylomicronemia syndrome.

• 

  Figure 3. Geographical distribution of FCS cases. A. The geographical distribution of LPL-FCS, non-PL-FCS, and variant-Positive MCS across the United Kingdom along with the total population of the region. B. Distribution of individual genotypes across different regions. FCS, Familial chylomicronemia syndrome; LPL, lipoprotein lipase; MCS, multifactorial chylomicronemia syndrome; EM, East Midlands; EoE, East of England; Ire, Ireland; Lon, London; NI, Northern Ireland; NE, Northeast; NW, Northwest; Sco, Scotland; SE, Southeast; SW, Southwest; WM, West Midlands; Y&H, Yorkshire & Humber.

• 

  Figure 4. Distribution of each FCS gene variant in United Kingdom. The relative proportion of individual P/LP gene variants across different regions of the United Kingdom for LPL-FCS (A) and non-LPL-FCS (B). FCS, Familial chylomicronemia syndrome; LPL, lipoprotein lipase; P/LP, pathogenic/likely pathogenic. EM, East Midlands; EoE, East of England; Ire, Ireland; Lon, London; NI, Northern Ireland; NE, North East; NW, North West; Sco, Scotland; SE, South East; SW, South West; WM, West Midlands; Y&H, Yorkshire & Humber.

• 

  Figure 5. Ethnic distribution of FCS-causing genes. Relative proportion of individual genotypes in whole cohort (A), European FCS (B), and non-European FCS (C). FCS, Familial chylomicronemia syndrome.