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Additional information on ApoB R3500Q mutation in Spain

      We read with interest the paper on apolipoprotein B R3500Q gene mutation in Spanish subjects with a clinical diagnosis of FH, by Castillo et al. [
      • Castillo S.
      • Tejedor D.
      • Mozas P.
      • et al.
      The apolipoprotein B R3500Q gene mutation in Spanish subjects with a clinical diagnosis of familial hipercolesterolemia.
      ] and would like to add some comments and observations that may be of interest. Following our initial publication of the first Spanish family with Familial Defective ApoB (FDB) in 1999 [
      • Real J.T.
      • Chaves J.F.
      • Ascaso J.F.
      • Armengod M.E.
      • Carmena R.
      Familial defect of ApoB-100 in subjects with clinically diagnosed primary hypercholesterolemic: identification of the first family with this disorder in Spain.
      ], we have molecularly characterized a total of 18 heterozygous and one homozygous for the R3500Q mutation (Table 1). All subjects come from the Valencia Community (eastern Spain) and either live or are descendants from the same village (La Yesa) and their family pedigrees have been carefully traced back to early XIXth century. To the best of our knowledge, no evidence of Celtic ancestry has been ascertained. The high prevalence found in this Mediterranean region could be explained by a founder effect, since this small village was rather isolated until recent times and endogamy was frequent. It is remarkable that eight heterozygous subjects were detected among the 250 current inhabitants of the village, corresponding to a 3.2% prevalence.
      Table 1General characteristics and plasma lipid values of 19 FDB subjects studied in the Valencia Community
      Gender R3500Q Age (years) TC (mg/dl) TG (mg/dl) HDLc (mg/dl) LDLc (mg/dl) Xanthomas CHD
      Male Heterozygote 60 180 98 50 122 No No
      Male Heterozygote 25 192 135 34 148 No No
      Female Heterozygote 23 204 132 32 146 No No
      Female Heterozygote 24 260 63 68 189 No No
      Female Heterozygote 27 265 44 60 196 No No
      Female Heterozygote 49 272 149 43 199 No No
      Male Heterozygote 60 274 229 38 181 No No
      Female Heterozygote 52 275 46 68 198 No No
      Male Heterozygote 15 282 152 48 214 No No
      Male Heterozygote 64 291 90 47 226 No No
      Female Heterozygote 47 311 129 42 243 No No
      Female Heterozygote 53 319 124 58 252 No No
      Male Heterozygote 56 335 88 59 259 No No
      Female Heterozygote 53 344 118 38 282 No No
      Female Heterozygote 54 378 96 52 307 No No
      Male Homozygote 56 391 144 33 340 No Yes
      Male Heterozygote 57 245
      Treatment with 40 mg/dl of simvastatin. All other subjects were studied under basal condition.
      60 49 184 No No
      Female Heterozygote 54 325 58 62 232 No No
      Female Heterozygote 23 294 52 58 196 No No
      CHD, clinical symptoms of coronary heart disease; TC, total cholesterol; TG, triglycerides; HDLc, high-density lipoprotein cholesterol; LDLc, low-density lipoprotein cholesterol.
      a Treatment with 40 mg/dl of simvastatin. All other subjects were studied under basal condition.
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      References

        • Castillo S.
        • Tejedor D.
        • Mozas P.
        • et al.
        The apolipoprotein B R3500Q gene mutation in Spanish subjects with a clinical diagnosis of familial hipercolesterolemia.
        Atherosclerosis. 2002; 165: 127-135
        • Real J.T.
        • Chaves J.F.
        • Ascaso J.F.
        • Armengod M.E.
        • Carmena R.
        Familial defect of ApoB-100 in subjects with clinically diagnosed primary hypercholesterolemic: identification of the first family with this disorder in Spain.
        Med. Clin. (Barna). 1999; 113: 15-17