Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution

References

• Burnett JR, Ravine D, van Bockxmeer FM, Watts GF. Familial hypercholesterolaemia: a look back, a look ahead. Med J Aust 2005;182:552–553.
   PubMedGoogle Scholar
• Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler K, et al., eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill, 2001:2863–2913.
   Google Scholar
• Whitfield AJ, Barrett PHR, van Bockxmeer FM, Burnett JR. Lipid disorders and mutations in the APOB gene. Clin Chem 2004;50:1725–1732.
   PubMed Web of Science ®Google Scholar
• Lambert G. Unravelling the functional significance of PCSK9. Curr Opin Lipidol 2007;18:304–309.
   PubMed Web of Science ®Google Scholar
• Soutar AK, Naoumova RP. Autosomal recessive hypercholesterolemia. Semin Vasc Med 2004;4:241–248.
   PubMedGoogle Scholar
• Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group. BMJ 1991;303:893–896.
   PubMedGoogle Scholar
• World Health Organization. Familial hypercholesterolemia. Report of a second WHO Consultation. WHO/HGN/FH/CONS/992 1999. Geneva: World Health Organization, 1999.
   Google Scholar
• Balaresque P, Bowden GR, Adams SM, Leung HY, King TE, Rosser ZH, Goodwin J, Moisan JP, Richard C, Millward A, Demaine AG, Barbujani G, Previdere C, Wilson IJ, Tyler-Smith C, Jobling MA. A predominantly neolithic origin for European paternal lineages. PLoS Biol 2010;8:e1000285.
   PubMed Web of Science ®Google Scholar
• Ghirotto S, Mona S, Benazzo A, Paparazzo F, Caramelli D, Barbujani G. Inferring genealogical processes from patterns of Bronze-Age and modern DNA variation in Sardinia. Mol Biol Evol 2010;27:875–886.
   PubMed Web of Science ®Google Scholar
• Rees A. Familial hypercholesterolaemia: underdiagnosed and undertreated. Eur Heart J 2008;29:2583–2584.
   Google Scholar
• Yuan G, Wang J, Hegele RA. Heterozygous familial hypercholesterolemia: an underrecognized cause of early cardiovascular disease. CMAJ 2006;174:1124–1129.
   PubMed Web of Science ®Google Scholar
• Brown MS, Goldstein JL. A receptor-mediated pathway for cholesterol homeostasis. Science 1986;232:34–47.
   PubMed Web of Science ®Google Scholar
• Soutar AK, Naoumova RP. Mechanisms of disease: genetic causes of familial hypercholesterolemia. Nat Clin Pract Cardiovasc Med 2007;4:214–225.
   PubMedGoogle Scholar
• Khachadurian AK. The inheritance of essential familial hypercholesterolemia. Am J Med 1964;37:402–407.
   PubMedGoogle Scholar
• Stone NJ, Levy RI, Fredrickson DS, Verter J. Coronary artery disease in 116 kindred with familial type II hyperlipoproteinemia. Circulation 1974;49:476–488.
   PubMed Web of Science ®Google Scholar
• de Jongh S, Lilien MR, op’t Roodt J, Stroes ES, Bakker HD, Kastelein JJ. Early statin therapy restores endothelial function in children with familial hypercholesterolemia. J Am Coll Cardiol 2002;40:2117–2121.
   PubMed Web of Science ®Google Scholar
• Wiegman A, de Groot E, Hutten BA, Rodenburg J, Gort J, Bakker HD, Sijbrands EJ, Kastelein JJ. Arterial intima-media thickness in children heterozygous for familial hypercholesterolaemia. Lancet 2004;363:369–370.
   PubMed Web of Science ®Google Scholar
• Khachadurian AK, Uthman SM. Experiences with the homozygous cases of familial hypercholesterolemia. A report of 52 patients. Nutr Metab 1973;15:132–140.
   PubMedGoogle Scholar
• Austin MA, Hutter CM, Zimmern RL, Humphries SE. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. Am J Epidemiol 2004;160:407–420.
   PubMed Web of Science ®Google Scholar
• Kotze MJ, Langenhoven E, Warnich L, du Plessis L, Retief AE. The molecular basis and diagnosis of familial hypercholesterolaemia in South African Afrikaners. Ann Hum Genet 1991;55:115–121.
   PubMed Web of Science ®Google Scholar
• Moorjani S, Roy M, Gagne C, Davignon J, Brun D, Toussaint M, Lambert M, Campeau L, Blaichman S, Lupien P. Homozygous familial hypercholesterolemia among French Canadians in Quebec Province. Arteriosclerosis 1989;9:211–216.
   PubMedGoogle Scholar
• Leitersdorf E, Tobin EJ, Davignon J, Hobbs HH. Common low-density lipoprotein receptor mutations in the French Canadian population. J Clin Invest 1990;85:1014–1023.
   PubMed Web of Science ®Google Scholar
• Hobbs HH, Brown MS, Russell DW, Davignon J, Goldstein JL. Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia. N Engl J Med 1987;317:734–737
   PubMed Web of Science ®Google Scholar
• Lehrman MA, Schneider WJ, Brown MS, Davis CG, Elhammer A, Russell DW, Goldstein JL. The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum. J Biol Chem 1987;262:401–410.
   PubMed Web of Science ®Google Scholar
• Abifadel M, Rabes JP, Jambart S, Halaby G, Gannage-Yared MH, Sarkis A, Beaino G, Varret M, Salem N, Corbani S, Aydenian H, Junien C, Munnich A, Boileau C. The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene. Hum Mutat 2009;30:E682–E691.
   Google Scholar
• Dedoussis GV, Schmidt H, Genschel J. LDL-receptor mutations in Europe. Hum Mutat 2004;24:443–459.
   Google Scholar
• Marduel M, Carrie A, Sassolas A, Devillers M, Carreau V, Di Filippo M, Erlich D, Abifadel M, Marques-Pinheiro A, Munnich A, Junien C, Boileau C, Varret M, Rabes JP, Farnier M, Luc G, Lecerf JM, Bruckert E, Bonnefont-Rousselot D, Giral P, Kalopissis A, Girardet JP, Polak M, Chanu B, Moulin P, Perrot L, Krempf M, Zair Y, Bonnet J, Ferrieres J, Ferrieres D, Bongard V, Cournot M, Reznick Y, Schlienger JL, Fredenrich A, Durlach V. Molecular spectrum of autosomal dominant hypercholesterolemia in France. Hum Mutat 2010;31:E1811–E1824.
   Google Scholar
• Bertolini S, Cantafora A, Averna M, Cortese C, Motti C, Martini S, Pes G, Postiglione A, Stefanutti C, Blotta I, Pisciotta L, Rolleri M, Langheim S, Ghisellini M, Rabbone I, Calandra S. Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype. Arterioscler Thromb Vasc Biol 2000;20:E41–E52.
   Google Scholar
• Liguori R, Bianco AM, Argiriou A, Pauciullo P, Giannino A, Rubba P, De Simone V. LDL receptor cDNA sequence analysis in familial hypercholesterolemia patients: 5 novel mutations with high prevalence in families originating from southern Italy. Hum Mutat 2001;17:433.
   Google Scholar
• Romano M, Di Taranto MD, D’Agostino MN, Marotta G, Gentile M, Abate G, Mirabelli P, Di Noto R, Del Vecchio L, Rubba P, Fortunato G. Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy. Atherosclerosis 2010;210:493–496.
   Google Scholar
• Fouchier SW, Kastelein JJ, Defesche JC. Update of the molecular basis of familial hypercholesterolemia in The Netherlands. Hum Mutat 2005;26:550–556.
   PubMed Web of Science ®Google Scholar
• Taylor A, Martin B, Wang D, Patel K, Humphries SE, Norbury G. Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of the LDLR gene in patients with familial hypercholesterolaemia. Clin Genet 2009;76:69–75.
   PubMed Web of Science ®Google Scholar
• Taylor A, Tabrah S, Wang D, Sozen M, Duxbury N, Whittall R, Humphries SE, Norbury G. Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia. Clin Genet 2007;71:561–568.
   Google Scholar
• Taylor A, Wang D, Patel K, Whittall R, Wood G, Farrer M, Neely RD, Fairgrieve S, Nair D, Barbir M, Jones JL, Egan S, Everdale R, Lolin Y, Hughes E, Cooper JA, Hadfield SG, Norbury G, Humphries SE. Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project. Clin Genet 2010;77:572–580.
   PubMed Web of Science ®Google Scholar
• Wright WT, Heggarty SV, Young IS, Nicholls DP, Whittall R, Humphries SE, Graham CA. Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations. Clin Genet 2008;74:463–468.
   Google Scholar
• Mozas P, Castillo S, Tejedor D, Reyes G, Alonso R, Franco M, Saenz P, Fuentes F, Almagro F, Mata P, Pocovi M. Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR. Hum Mutat 2004;24:187.
   Google Scholar
• Alonso R, Defesche JC, Tejedor D, Castillo S, Stef M, Mata N, Gomez-Enterria P, Martinez-Faedo C, Forga L, Mata P. Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform. Clin Biochem 2009;42:899–903.
   PubMed Web of Science ®Google Scholar
• Civeira F, Ros E, Jarauta E, Plana N, Zambon D, Puzo J, Martinez de Esteban JP, Ferrando J, Zabala S, Almagro F, Gimeno JA, Masana L, Pocovi M. Comparison of genetic versus clinical diagnosis in familial hypercholesterolemia. Am J Cardiol 2008;102:1187–1193.
   PubMed Web of Science ®Google Scholar
• Medeiros AM, Alves AC, Francisco V, Bourbon M. Update of the Portuguese Familial Hypercholesterolaemia Study. Atherosclerosis 2010;212:553–558.
   Google Scholar
• Bourbon M, Duarte MA, Alves AC, Medeiros AM, Marques L, Soutar AK. Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations. J Med Genet 2009;46:352–357.
   PubMedGoogle Scholar
• Glynou K, Laios E, Drogari E, Tsaoussis V. Development of a universal chemiluminometric genotyping method for high-throughput detection of 7 LDLR gene mutations in Greek population. Clin Biochem 2008;41:335–342.
   Google Scholar
• Dedoussis GV, Genschel J, Bochow B, Pitsavos C, Skoumas J, Prassa M, Lkhagvasuren S, Toutouzas P, Vogt A, Kassner U, Thomas HP, Schmidt H. Molecular characterization of familial hypercholesterolemia in German and Greek patients. Hum Mutat 2004;23:285–286.
   Google Scholar
• Gudnason V, Sigurdsson G, Nissen H, Humphries SE. Common founder mutation in the LDL receptor gene causing familial hypercholesterolaemia in the Icelandic population. Hum Mutat 1997;10:36–44.
   PubMed Web of Science ®Google Scholar
• Vuorio AF, Aalto-Setala K, Koivisto UM, Turtola H, Nissen H, Kovanen PT, Miettinen TA, Gylling H, Oksanen H, Kontula K. Familial hypercholesterolaemia in Finland: common, rare and mild mutations of the LDL receptor and their clinical consequences. Finnish FH-group. Ann Med 2001;33:410–421.
   PubMed Web of Science ®Google Scholar
• Jensen HK. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark. Dan Med Bull 2002;49:318–345.
   PubMed Web of Science ®Google Scholar
• Jensen HK, Jensen LG, Meinertz H, Hansen PS, Gregersen N, Faergeman O. Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia. Atherosclerosis 1999;146:337–344.
   Google Scholar
• Leren TP, Finborud TH, Manshaus TE, Ose L, Berge KE. Diagnosis of familial hypercholesterolemia in general practice using clinical diagnostic criteria or genetic testing as part of cascade genetic screening. Community Genet 2008;11:26–35.
   PubMedGoogle Scholar
• Leren TP, Manshaus T, Skovholt U, Skodje T, Nossen IE, Teie C, Sorensen S, Bakken KS. Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. Semin Vasc Med 2004;4:75–85.
   PubMedGoogle Scholar
• Holla OL, Teie C, Berge KE, Leren TP. Identification of deletions and duplications in the low density lipoprotein receptor gene by MLPA. Clin Chim Acta 2005;356:164–171.
   Google Scholar
• Lind S, Rystedt E, Eriksson M, Wiklund O, Angelin B, Eggertsen G. Genetic characterization of Swedish patients with familial hypercholesterolemia: a heterogeneous pattern of mutations in the LDL receptor gene. Atherosclerosis 2002;163:399–407.
   Google Scholar
• Kuhrova V, Francova H, Zapletalova P, Freiberger T, Fajkusova L, Hrabincova E, Slovackova R, Kozak L, Slovakova R. Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients. Hum Mutat 2002;19:80.
   Google Scholar
• Schmidt H, Kostner GM. Familial hypercholesterolemia in Austria reflects the multi-ethnic origin of our country. Atherosclerosis 2000;148:431–432.
   Google Scholar
• Goldmann R, Tichy L, Freiberger T, Zapletalova P, Letocha O, Soska V, Fajkus J, Fajkusova L. Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia. BMC Med Genet 2010;11:115.
   Google Scholar
• Descamps OS, Gilbeau JP, Luwaert R, Heller FR. Impact of genetic defects on coronary atherosclerosis in patients suspected of having familial hypercholesterolaemia. Eur J Clin Invest 2003;33:1–9.
   PubMed Web of Science ®Google Scholar
• Chmara M, Wasag B, Zuk M, Kubalska J, Wegrzyn A, Bednarska-Makaruk M, Pronicka E, Wehr H, Defesche JC, Rynkiewicz A, Limon J. Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. J Appl Genet 2010;51:95–106.
   Google Scholar
• Mandelshtam M, Chakir K, Shevtsov S, Golubkov V, Skobeleva N, Lipovetsky B, Konstantinov V, Denisenko A, Gaitskhoki V, Schwartz E. Prevalence of Lithuanian mutation among St. Petersburg Jews with familial hypercholesterolemia. Hum Mutat 1998;12:255–258.
   Google Scholar
• Zakharova FM, Damgaard D, Mandelshtam MY, Golubkov VI, Nissen PH, Nilsen GG, Stenderup A, Lipovetsky BM, Konstantinov VO, Denisenko AD, Vasilyev VB, Faergeman O. Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia. BMC Med Genet 2005;6:6.
   Google Scholar
• Meshkov AN, Malyshev PP, Kukharchuk VV. [Familial hypercholesterolemia in Russia: genetic and phenotypic characteristics]. Ter Arkh 2009;81:23–28.
   Google Scholar
• Hamilton-Craig I. Case-finding for familial hypercholesterolemia in the Asia-Pacific region. Semin Vasc Med 2004;4:87–92.
   PubMedGoogle Scholar
• Chiou KR, Charng MJ. Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia. Am J Cardiol 2010;105:1752–1758.
   Google Scholar
• Kondkar AA, Nair KG, Ashavaid TF. Genetic analysis of Indian subjects with clinical features of possible type IIa hypercholesterolemia. J Clin Lab Anal 2007;21:375–381.
   Google Scholar
• Cheng X, Ding J, Zheng F, Zhou X, Xiong C. Two mutations in LDLR gene were found in two Chinese families with familial hypercholesterolemia. Mol Biol Rep 2009;36:2053–2057.
   Google Scholar
• Punzalan FE, Sy RG, Santos RS, Cutiongco EM, Gosiengfiao S, Fadriguilan E, George P, Laurie A. Low density lipoprotein-receptor (LDL-R) gene mutations among Filipinos with familial hypercholesterolemia. J Atheroscler Thromb 2005;12:276–283.
   Google Scholar
• Ajmal M, Ahmed W, Sadeque A, Ali SH, Bokhari SH, Ahmed N, Qamar R. Identification of a recurrent insertion mutation in the LDLR gene in a Pakistani family with autosomal dominant hypercholesterolemia. Mol Biol Rep 2010;37:3869–3875.
   Google Scholar
• Miyake Y, Yamamura T, Sakai N, Miyata T, Kokubo Y, Yamamoto A. Update of Japanese common LDLR gene mutations and their phenotypes: Mild type mutation L547V might predominate in the Japanese population. Atherosclerosis 2009;203:153–160.
   Google Scholar
• Yu W, Nohara A, Higashikata T, Lu H, Inazu A, Mabuchi H. Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population. Atherosclerosis 2002;165:335–342.
   Google Scholar
• Umans-Eckenhausen MA, Defesche JC, Sijbrands EJ, Scheerder RL, Kastelein JJ. Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands. Lancet 2001;357:165–168.
   PubMed Web of Science ®Google Scholar
• Leren TP. Cascade genetic screening for familial hypercholesterolemia. Clin Genet 2004;66:483–487.
   PubMed Web of Science ®Google Scholar
• Wald DS, Bestwick JP, Wald NJ. Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis. BMJ 2007;335:599.
   PubMed Web of Science ®Google Scholar
• Calonge N, Guirguis-Blake J. Screening for familial hypercholesterolaemia. BMJ 2007;335:573–574.
   Google Scholar
• Campagna F, Martino F, Bifolco M, Montali A, Martino E, Morrone F, Antonini R, Cantafora A, Verna R, Arca M. Detection of familial hypercholesterolemia in a cohort of children with hypercholesterolemia: results of a family and DNA-based screening. Atherosclerosis 2008;196:356–364.
   PubMed Web of Science ®Google Scholar
• Marais AD. Familial hypercholesterolaemia. Clin Biochem Rev 2004;25:49–68.
   PubMedGoogle Scholar
• Leitersdorf E, Van der Westhuyzen DR, Coetzee GA, Hobbs HH. Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners. J Clin Invest 1989;84:954–961.
   PubMed Web of Science ®Google Scholar
• Meiner V, Landsberger D, Berkman N, Reshef A, Segal P, Seftel HC, van der Westhuyzen DR, Jeenah MS, Coetzee GA, Leitersdorf E. A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews. Am J Hum Genet 1991;49:443–449.
   Google Scholar
• Garcia-Garcia AB, Real JT, Puig O, Cebolla E, Marin-Garcia P, Martinez Ferrandis JI, Garcia-Sogo M, Civera M, Ascaso JF, Carmena R, Armengod ME, Chaves FJ. Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis. Hum Mutat 2001;18:458–459.
   Google Scholar
• Torrington M, Brink PA. Relevance of ancestral surname identification in pedigrees of Afrikaner families with familial hypercholesterolaemia. S Afr Med J 1990;77:289–292.
   Google Scholar
• Tipping AJ, Pearson T, Morgan NV, Gibson RA, Kuyt LP, Havenga C, Gluckman E, Joenje H, de Ravel T, Jansen S, Mathew CG. Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa. Proc Natl Acad Sci USA 2001;98:5734–5739.
   PubMed Web of Science ®Google Scholar
• Scriver CR. Human genetics: lessons from Quebec populations. Annu Rev Genomics Hum Genet 2001;2:69–101.
   PubMed Web of Science ®Google Scholar
• Bertolini S, Lelli N, Coviello DA, Ghisellini M, Masturzo P, Tiozzo R, Elicio N, Gaddi A, Calandra S. A large deletion in the LDL receptor gene: the cause of familial hypercholesterolemia in three Italian families: a study that dates back to the 17th century (FH-Pavia). Am J Hum Genet 1992;51:123–134.
   Google Scholar
• The WayStation − List of LSDBs. Available at: http://www.centralmutations.org/Lsdb.php. Accessed on 31 March 2011.
   Google Scholar
• Fokkema IF, den Dunnen JT, Taschner PE. LOVD: easy creation of a locus-specific sequence variation database using an “LSDB-in-a-box” approach. Hum Mutat 2005;26:63–68.
   Google Scholar
• Cotton RG, Auerbach AD, Beckmann JS, Blumenfeld OO, Brookes AJ, Brown AF, Carrera P, Cox DW, Gottlieb B, Greenblatt MS, Hilbert P, Lehvaslaiho H, Liang P, Marsh S, Nebert DW, Povey S, Rossetti S, Scriver CR, Summar M, Tolan DR, Verma IC, Vihinen M, den Dunnen JT. Recommendations for locus-specific databases and their curation. Hum Mutat 2008;29:2–5.
   Google Scholar
• Gen2Phen Background and Concept. Available at: http://www.gen2phen.org/about-gen2phen/background-and-concept. Accessed on 31 March 2011.
   Google Scholar
• UCL LDLR Database. Available at: http://www.ucl.ac.uk/ldlr/LOVDv.1.1.0/. Accessed on 11 February 2011.
   Google Scholar
• Lee SS, Mountain J, Koenig B, Altman R, Brown M, Camarillo A, Cavalli-Sforza L, Cho M, Eberhardt J, Feldman M, Ford R, Greely H, King R, Markus H, Satz D, Snipp M, Steele C, Underhill P. The ethics of characterizing difference: guiding principles on using racial categories in human genetics. Genome Biol 2008;9:404.
   PubMed Web of Science ®Google Scholar
• Itan Y, Powell A, Beaumont MA, Burger J, Thomas MG. The origins of lactase persistence in Europe. PLoS Comput Biol 2009;5:e1000491.
   PubMed Web of Science ®Google Scholar
• Haak W, Balanovsky O, Sanchez JJ, Koshel S, Zaporozhchenko V, Adler CJ, Der Sarkissian CS, Brandt G, Schwarz C, Nicklisch N, Dresely V, Fritsch B, Balanovska E, Villems R, Meller H, Alt KW, Cooper A. Ancient DNA from European Early Neolithic farmers reveals their Near Eastern affinities. PLoS Biol 2010;8:e1000536.
   PubMed Web of Science ®Google Scholar
• Bramanti B, Thomas MG, Haak W, Unterlaender M, Jores P, Tambets K, Antanaitis-Jacobs I, Haidle MN, Jankauskas R, Kind CJ, Lueth F, Terberger T, Hiller J, Matsumura S, Forster P, Burger J. Genetic discontinuity between local hunter-gatherers and central Europe’s first farmers. Science 2009;326:137–140.
   PubMed Web of Science ®Google Scholar
• Patin E, Barreiro LB, Sabeti PC, Austerlitz F, Luca F, Sajantila A, Behar DM, Semino O, Sakuntabhai A, Guiso N, Gicquel B, McElreavey K, Harding RM, Heyer E, Quintana-Murci L. Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes. Am J Hum Genet 2006;78:423–436.
   PubMed Web of Science ®Google Scholar
• Ingelman-Sundberg M. Genetic polymorphisms of cytochrome P450 2D6 (CYP2D6): clinical consequences, evolutionary aspects and functional diversity. Pharmacogenomics J 2005;5:6–13.
   PubMed Web of Science ®Google Scholar
• Humphries SE, Drenos F, Ken-Dror G, Talmud PJ. Coronary heart disease risk prediction in the era of genome-wide association studies: current status and what the future holds. Circulation 2010;121:2235–2248.
   PubMed Web of Science ®Google Scholar
• Kathiresan S, Melander O, Anevski D, Guiducci C, Burtt NP, Roos C, Hirschhorn JN, Berglund G, Hedblad B, Groop L, Altshuler DM, Newton-Cheh C, Orho-Melander M. Polymorphisms associated with cholesterol and risk of cardiovascular events. N Engl J Med 2008;358:1240–1249.
   PubMed Web of Science ®Google Scholar
• Kathiresan S, Melander O, Guiducci C, Surti A, Burtt NP, Rieder MJ, Cooper GM, Roos C, Voight BF, Havulinna AS, Wahlstrand B, Hedner T, Corella D, Tai ES, Ordovas JM, Berglund G, Vartiainen E, Jousilahti P, Hedblad B, Taskinen MR, Newton-Cheh C, Salomaa V, Peltonen L, Groop L, Altshuler DM, Orho-Melander M. Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Nat Genet 2008;40:189–197.
   PubMed Web of Science ®Google Scholar
• Park MH, Kim N, Lee JY, Park HY. Genetic loci associated with lipid concentrations and cardiovascular risk factors in a Korean population. J Med Genet 2011;48:10–5.
   Google Scholar
• Ye SQ, Kwiterovich PO Jr. Influence of genetic polymorphisms on responsiveness to dietary fat and cholesterol. Am J Clin Nutr 2000;72:1275S–1284S.
   Google Scholar
• Bennet AM, Di Angelantonio E, Ye Z, Wensley F, Dahlin A, Ahlbom A, Keavney B, Collins R, Wiman B, de Faire U, Danesh J. Association of apolipoprotein E genotypes with lipid levels and coronary risk. JAMA 2007;298:1300–1311
   PubMed Web of Science ®Google Scholar
• Burman D, Mente A, Hegele RA, Islam S, Yusuf S, Anand SS. Relationship of the ApoE polymorphism to plasma lipid traits among South Asians, Chinese, and Europeans living in Canada. Atherosclerosis 2009;203:192–200.
   PubMed Web of Science ®Google Scholar
• Eichner JE, Dunn ST, Perveen G, Thompson DM, Stewart KE, Stroehla BC. Apolipoprotein E polymorphism and cardiovascular disease: a HuGE review. Am J Epidemiol 2002;155:487–495.
   PubMed Web of Science ®Google Scholar
• Rimbach G, Minihane AM. Nutrigenetics and personalised nutrition: how far have we progressed and are we likely to get there? Proc Nutr Soc 2009;68:162–172.
   Google Scholar
• Weggemans RM, Zock PL, Ordovas JM, Pedro-Botet J, Katan MB. Apoprotein E genotype and the response of serum cholesterol to dietary fat, cholesterol and cafestol. Atherosclerosis 2001;154:547–555.
   Google Scholar
• Wu K, Bowman R, Welch AA, Luben RN, Wareham N, Khaw KT, Bingham SA. Apolipoprotein E polymorphisms, dietary fat and fibre, and serum lipids: the EPIC Norfolk study. Eur Heart J 2007;28:2930–2936.
   PubMed Web of Science ®Google Scholar
• Fullerton SM, Clark AG, Weiss KM, Nickerson DA, Taylor SL, Stengard JH, Salomaa V, Vartiainen E, Perola M, Boerwinkle E, Sing CF. Apolipoprotein E variation at the sequence haplotype level: implications for the origin and maintenance of a major human polymorphism. Am J Hum Genet 2000;67:881–900.
   PubMed Web of Science ®Google Scholar
• van Bockxmeer FM. ApoE and ACE genes: impact on human longevity. Nat Genet 1994;6:4–5.
   PubMed Web of Science ®Google Scholar
• Becher JC, Keeling JW, McIntosh N, Wyatt B, Bell J. The distribution of apolipoprotein E alleles in Scottish perinatal deaths. J Med Genet 2006;43:414–418.
   PubMed Web of Science ®Google Scholar
• Corbo RM, Ulizzi L, Scacchi R, Martinez-Labarga C, De Stefano GF. Apolipoprotein E polymorphism and fertility: a study in pre-industrial populations. Mol Hum Reprod 2004;10:617–620.
   Google Scholar
• Edison RJ, Berg K, Remaley A, Kelley R, Rotimi C, Stevenson RE, Muenke M. Adverse birth outcome among mothers with low serum cholesterol. Pediatrics 2007;120:723–733.
   PubMed Web of Science ®Google Scholar
• Infante-Rivard C, Levy E, Rivard GE, Guiguet M, Feoli-Fonseca JC. Small babies receive the cardiovascular protective apolipoprotein epsilon 2 allele less frequently than expected. J Med Genet 2003;40:626–629.
   Google Scholar
• Ozornek H, Ergin E, Jeyendran RS, Ozay AT, Pillai D, Coulam C. Is apolipoprotien E codon 112 polymorphisms associated with recurrent pregnancy loss? Am J Reprod Immunol 2010;64:87–92.
   Google Scholar
• Fagundes NJ, Ray N, Beaumont M, Neuenschwander S, Salzano FM, Bonatto SL, Excoffier L. Statistical evaluation of alternative models of human evolution. Proc Natl Acad Sci USA 2007;104:17614–17619.
   PubMed Web of Science ®Google Scholar
• Zeegers MP, van Poppel F, Vlietinck R, Spruijt L, Ostrer H. Founder mutations among the Dutch. Eur J Hum Genet 2004;12:591–600.
   Google Scholar
• Shen H, Damcott CM, Rampersaud E, Pollin TI, Horenstein RB, McArdle PF, Peyser PA, Bielak LF, Post WS, Chang YP, Ryan KA, Miller M, Rumberger JA, Sheedy PF, 2nd Shelton, J, O’Connell JR, Shuldiner AR, Mitchell BD. Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the old order amish. Arch Intern Med 2010;170:1850–1855.
   PubMedGoogle Scholar
• Soria LF, Ludwig EH, Clarke HR, Vega GL, Grundy SM, McCarthy BJ. Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. Proc Natl Acad Sci USA 1989;86:587–591.
   PubMed Web of Science ®Google Scholar
• Myant NB, Forbes SA, Day IN, Gallagher J. Estimation of the age of the ancestral arginine3500–>glutamine mutation in human apoB-100. Genomics 1997;45:78–87.
   PubMed Web of Science ®Google Scholar
• Miserez AR, Muller PY. Familial defective apolipoprotein B-100: a mutation emerged in the mesolithic ancestors of Celtic peoples? Atherosclerosis 2000;148:433–436.
   Google Scholar
• Cavalli-Sforza LL, Bodmer WF. The Genetics of Human Populations. San Francisco: Freeman, 1971:483–488.
   Google Scholar
• Eroglu Z, Selvi N, Kosova B, Biray C, Kumral E, Topcuoglu N, Kayikcioglu M. Absence of apolipoprotein B-3500 mutation in Turkish patients with coronary and cerebrovascular atherosclerosis. Anadolu Kardiyol Derg 2008;8:7–9.
   Google Scholar
• Castillo S, Tejedor D, Mozas P, Reyes G, Civeira F, Alonso R, Ros E, Pocovi M, Mata P. The apolipoprotein B R3500Q gene mutation in Spanish subjects with a clinical diagnosis of familial hypercholesterolemia. Atherosclerosis 2002;165:127–135.
   Google Scholar
• Bednarska-Makaruk M, Bisko M, Pulawska MF, Hoffman-Zacharska D, Rodo M, Roszczynko M, Solik-Tomassi A, Broda G, Polakowska M, Pytlak A, Wehr H. Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene. Eur J Hum Genet 2001;9:836–842.
   PubMed Web of Science ®Google Scholar
• Gasparovic J, Basistova Z, Fabryova L, Wsolova L, Vohnout B, Raslova K. Familial defective apolipoprotein B-100 in Slovakia: are differences in prevalence of familial defective apolipoprotein B-100 explained by ethnicity? Atherosclerosis 2007;194:e95–107.
   Google Scholar
• Milman N, Pedersen P. Evidence that the Cys282Tyr mutation of the HFE gene originated from a population in southern Scandinavia and spread with the Vikings. Clin Genet 2003;64:36–47.
   PubMed Web of Science ®Google Scholar
• Distante S, Robson KJ, Graham-Campbell J, Arnaiz-Villena A, Brissot P, Worwood M. The origin and spread of the HFE-C282Y haemochromatosis mutation. Hum Genet 2004;115:269–279.
   PubMed Web of Science ®Google Scholar
• Hardelid P, Cortina-Borja M, Munro A, Jones H, Cleary M, Champion MP, Foo Y, Scriver CR, Dezateux C. The birth prevalence of PKU in populations of European, south Asian and sub-Saharan African ancestry living in south east England. Ann Hum Genet 2008;72:65–71.
   PubMedGoogle Scholar