J Cavanna's research while affiliated with GSM London and other places

... Instead of using the wild-type (common) version of the LPL gene, a naturally occurring variant (S447X) was investigated. The S447X version of the LPL gene, present in 10%–25% of people , had been associated with a significantly improved lipid profile and enhanced removal of lipoprotein particles from the circulation (Hata et al., 1990; Stocks et al., 1992; Jemaa et al., 1995; Galton et al., 1996; Gagne et al., 1999; Wittrup et al., 1999, 2002). Dr. Kastelein's team in The Netherlands, including Dr. Jan Albert Kuivenhoven, confirmed the improved lipid profile and enhanced plasma triglyceride reductions in people who carried the S447X variant (Groenemeijer et al., 1997; Kuivenhoven et al., 1997; Gagne et al., 1999; Henderson et al., 1999; Nierman et al., 2005). ...

... One of the best characterized LPL polymorphisms is Ser447Ter. The 447Ter variant is missing two residues at the C-terminus, altering LPL activity, and resulting in lower blood levels of triglycerides and higher levels of HDL cholesterol [37] [38] [39] [40]. This lipid profile is associated with decreased risk of heart disease, and people with the 447Ter allele have less coronary artery disease [41] [42]. ...

... Обширные эпидемиологические исследования, проведенные в разных странах мира, показали существенные различия в заболеваемости ИБС представителей разных народов и этнических групп [132,133]. ...

... 3 Daher wird das Klonen aufgrund von Sicherheitsüberlegungen nach weit verbreiteter Ansicht als ethisch nicht vertretbar eingeschätzt. 4 Rechtsphilosophische Überlegungen gehen sogar so weit, dass ein dennoch geborener Klon Schadenersatzansprüche geltend machen könnte. 5 Die Ablehnung auf der Grundlage aktueller naturwissenschaftlicher Daten ist zwar sehr überzeugend, allerdings handelt es sich dabei um ein strukturell eher schwaches ethisches Argument. ...

... 16 This increase is well tolerated by most women with normal baseline TG levels but may render those with genetic defects in TG metabolism prone to severe HTG and, consequently, HTG-induced AP (HTG-AP). In this regard, numerous studies have reported the identification of rare pathogenic variants in the lipoprotein lipase (LPL; OMIM# 609708), [17][18][19][20][21][22][23][24][25][26] glycosylphosphatidylinositolanchored high-density lipoprotein-binding protein 1 (GPIHBP1; OMIM# 612757), and apolipoprotein C2 (APOC2; OMIM# 608083) genes 24,26 in patients experiencing HTG-AP during pregnancy (HTG-APIP). LPL, GPIHBP1, and APOC2, together with apolipoprotein A5 (APOA5; OMIM# 606368) and lipase maturation factor 1 (LMF1; OMIM# 611761), constitute the 5 primary TG-related genes. ...

... In gnomAD, LPL c.862G > A is listed as having an allele frequency of 0.0007611 (14/18,394) in the East Asian population but is absent from all other assigned populations, including South Asians. A literature search revealed that the c.862G > A variant has been previously reported in five studies; all carriers were of either Chinese [30][31][32][33] or Japanese origin [34]. Therefore, LPL c.862G > A is a rare East Asian-specific missense variant. ...

... Several polymorphisms of the apolipoprotein C3 gene (apoC3) have been reported, the SstI polymorphism being the most well-known [1][2][3]. This polymorphism is defined as a C to G conversion in the 3′ untranslated region of exon 4 in the apoC3 [4], and has been confirmed to exist in several ethnic groups, including African American, Caucasian, Taiwanese and Chinese populations. ...

... Moreover, HDL cholesterol acts as a protective factor for stroke development, similar to previous reports 12 . We did not evaluated the LPL polymorphisms association with altered lipid profile since previous studies failed to do so or had led to inconsistent results 13 . ...