<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>0016-3813</journal-id>
<journal-title><![CDATA[Gaceta médica de México]]></journal-title>
<abbrev-journal-title><![CDATA[Gac. Méd. Méx]]></abbrev-journal-title>
<issn>0016-3813</issn>
<publisher>
<publisher-name><![CDATA[Academia Nacional de Medicina de México A.C.]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0016-38132024000400009</article-id>
<article-id pub-id-type="doi">10.24875/gmm.24000163</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Aplicación del puntaje de riesgo poligénico de colesterol-LDL elevado de seis SNP en población argentina con fenotipo de hipercolesterolemia familiar]]></article-title>
<article-title xml:lang="en"><![CDATA[Application of the 6-SNP elevated LDL-cholesterol polygenic risk score in individuals with familial hypercholesterolemia phenotype from an Argentine population]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Bañares]]></surname>
<given-names><![CDATA[Virginia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Martini]]></surname>
<given-names><![CDATA[Javier]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[López]]></surname>
<given-names><![CDATA[Graciela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Corral]]></surname>
<given-names><![CDATA[Pablo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Schreier]]></surname>
<given-names><![CDATA[Laura]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Centro Nacional de Genética Médica Departamento de Genética Experimental Administración Nacional de Laboratorios e Institutos de Salud "Dr Carlos Malbrán"]]></institution>
<addr-line><![CDATA[Buenos Aires ]]></addr-line>
<country>Argentina</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Centro Nacional de Genética Médica Departamento de Genética Clínica Administración Nacional de Laboratorios e Institutos de Salud "Dr Carlos Malbrán"]]></institution>
<addr-line><![CDATA[Buenos Aires ]]></addr-line>
<country>Argentina</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad de Buenos Aires Facultad de Farmacia y Bioquímica Departamento de Bioquímica Clínica]]></institution>
<addr-line><![CDATA[Buenos Aires ]]></addr-line>
<country>Argentina</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Universidad FASTA Facultad de Medicina Instituto de Investigaciones Clínicas]]></institution>
<addr-line><![CDATA[Buenos Aires ]]></addr-line>
<country>Argentina</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>08</month>
<year>2024</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>08</month>
<year>2024</year>
</pub-date>
<volume>160</volume>
<numero>4</numero>
<fpage>435</fpage>
<lpage>441</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S0016-38132024000400009&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S0016-38132024000400009&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S0016-38132024000400009&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción: Un nivel de colesterol-LDL &gt; 190 mg/dL indica hipercolesterolemia severa de origen monogénico y/o poligénico. Los puntajes de riesgo genético (GRS) evalúan potenciales causas poligénicas.  Objetivo: Aplicar el GRS de seis SNP (GRS-6) en individuos con hipercolesterolemia severa.  Material y métodos: Se estudiaron 69 sujetos del registro de detección de hipercolesterolemia familiar (HF) en Argentina.  Resultados: Con 44 individuos con fenotipo de HF sin variantes genéticas que indicaran origen monogénico (HF/M&#8722;) y 26 sujetos de control, se estableció el valor de corte de GRS-6 en &gt; 0.76, con sensibilidad de 0.59 y especificidad de 0.69; 15 sujetos HF/M&#8722; (34 %) presentaron GRS-6 positivo. Los valores medios del GRS-6 en los pacientes con HF/M&#8722;, HF/M+ y los sujetos de control fueron 0.72 ± 0.17, 0.66 ± 0.17 y 0.70 ± 0.13 (p = 0.43). No existieron diferencias significativas en los valores de colesterol, ni en el puntaje clínico, entre los casos con GRS-6 positivo versus negativo. En 32 % de los casos se obtuvieron valores positivos para contribución poligénica con GRS-6 versus 20 % con GRS-10, puntaje que previamente había sido aplicado (p = 0.003).  Conclusión: Describimos el primer valor de corte para el GRS-6 en una población latinoamericana, y concluimos que este GRS podría aportar a la evaluación de la contribución poligénica en los pacientes con hipercolesterolemia severa en la población argentina de manera similar a la de otras poblaciones europeas.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Introduction: LDL-cholesterol greater than 190 mg/dL indicates severe hypercholesterolemia (HS) of monogenic and/or polygenic origin. Genetic risk scores (GRS) evaluate potential polygenic causes.  Objective: We applied a GRS of 6-SNP (GRS-6) in HS individuals.  Material and methods: 69 subjects from the Familial Hypercholesterolemia (HF) Detection registry in Argentina (Da Vinci).  Results: With 44 individuals with HF-phenotype, not carriers of genetic variants that indicate a monogenic origin (HF/M&#8722;) and 26 controls, the GRS-6 cut-off value was established, &gt; 0.76, sensitivity 0.59, specificity 0.69. 15/44(34 %) HF/M&#8722; presented GRS-6+. The mean GRS-6 values in HF/M&#8722;, HF/M+ and controls were 0.72 ± 0.17, 0.66 ± 0.17, and 0.70 ± 0.13 respectively (p = 0.43). There were no significant differences in cholesterol values, or in the clinical score, between cases with positive vs negative GRS-6. The GRS-6 was positive in 32 % of the cases vs 20 % of the previously applied GRS-10 (p = 0.003), significantly increasing the detection of polygenic contribution.  Conclusions: We present an estimate of the first cut-off value for the GRS-6 in a Latin American population, and we conclude that the GRS-6 could contribute to the evaluation of the polygenic contribution in cases with severe hypercholesterolemia in our population in a similar way to that of other European populations.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Hipercolesterolemia familiar]]></kwd>
<kwd lng="es"><![CDATA[Hipercolesterolemia poligénica]]></kwd>
<kwd lng="es"><![CDATA[Hipercolesterolemia severa]]></kwd>
<kwd lng="es"><![CDATA[Puntaje de riesgo poligénico]]></kwd>
<kwd lng="en"><![CDATA[Familial hypercholesterolemia]]></kwd>
<kwd lng="en"><![CDATA[Polygenic hypercholesterolemia]]></kwd>
<kwd lng="en"><![CDATA[Severe hypercholesterolemia]]></kwd>
<kwd lng="en"><![CDATA[Polygenic risk score]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<label>1</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Tada]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Kawashiri]]></surname>
<given-names><![CDATA[MA]]></given-names>
</name>
<name>
<surname><![CDATA[Nomura]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Teramoto]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Hosomichi]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Nohara]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Oligogenic familial hypercholesterolemia, LDL cholesterol, and coronary artery disease]]></article-title>
<source><![CDATA[J Clin Lipidol]]></source>
<year>2018</year>
<volume>12</volume>
<numero>6</numero>
<issue>6</issue>
<page-range>1436-44</page-range></nlm-citation>
</ref>
<ref id="B2">
<label>2</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Di Taranto]]></surname>
<given-names><![CDATA[MD]]></given-names>
</name>
<name>
<surname><![CDATA[Fortunato]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Genetic heterogeneity of familial hypercholesterolemia:repercussions for molecular diagnosis]]></article-title>
<source><![CDATA[Int J Mol Sci]]></source>
<year>2023</year>
<volume>24</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>3224</page-range></nlm-citation>
</ref>
<ref id="B3">
<label>3</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Corral]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Geller]]></surname>
<given-names><![CDATA[AS]]></given-names>
</name>
<name>
<surname><![CDATA[Polisecki]]></surname>
<given-names><![CDATA[EY]]></given-names>
</name>
<name>
<surname><![CDATA[López]]></surname>
<given-names><![CDATA[GI]]></given-names>
</name>
<name>
<surname><![CDATA[Bañares]]></surname>
<given-names><![CDATA[VG]]></given-names>
</name>
<name>
<surname><![CDATA[Cacciagiu]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Unusual genetic variants associated with hypercholesterolemia in Argentina]]></article-title>
<source><![CDATA[Atherosclerosis]]></source>
<year>2018</year>
<volume>277</volume>
<page-range>256-61</page-range></nlm-citation>
</ref>
<ref id="B4">
<label>4</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Heshti]]></surname>
<given-names><![CDATA[SO]]></given-names>
</name>
<name>
<surname><![CDATA[Madsen]]></surname>
<given-names><![CDATA[CM]]></given-names>
</name>
<name>
<surname><![CDATA[Varbo]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Nordestgaard]]></surname>
<given-names><![CDATA[BG]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Worldwide prevalence of familial hypercholesterolemia:metaanalyses of 11 million subjects]]></article-title>
<source><![CDATA[J Am Coll Cardiol]]></source>
<year>2020</year>
<volume>75</volume>
<numero>20</numero>
<issue>20</issue>
<page-range>2553-66</page-range></nlm-citation>
</ref>
<ref id="B5">
<label>5</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Alonso]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Pérez de Isla]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Muñiz-Grijalvo]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
<name>
<surname><![CDATA[Mata]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Barriers to early diagnosis and treatment of familial hypercholesterolemia:current perspectives on improving patient care]]></article-title>
<source><![CDATA[Vasc Health Risk Manag]]></source>
<year>2020</year>
<volume>16</volume>
<page-range>11-25</page-range></nlm-citation>
</ref>
<ref id="B6">
<label>6</label><nlm-citation citation-type="book">
<collab>World Health Organization</collab>
<source><![CDATA[Ginebra, Suiza:Familial hypercholesterolemia:report of a second WHO Consultation]]></source>
<year>1999</year>
<publisher-name><![CDATA[World Health Organization]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B7">
<label>7</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Medeiros]]></surname>
<given-names><![CDATA[AM]]></given-names>
</name>
<name>
<surname><![CDATA[Alves]]></surname>
<given-names><![CDATA[AC]]></given-names>
</name>
<name>
<surname><![CDATA[Miranda]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Chora]]></surname>
<given-names><![CDATA[JR]]></given-names>
</name>
<name>
<surname><![CDATA[Bourbon]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[;Investigators of the Portuguese FH Study. Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype]]></article-title>
<source><![CDATA[J Lipid Res]]></source>
<year>2023</year>
<volume>65</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>100490</page-range></nlm-citation>
</ref>
<ref id="B8">
<label>8</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Taylor]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Patel]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Whittall]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Wood]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Farrer]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project]]></article-title>
<source><![CDATA[Clin Genet]]></source>
<year>2010</year>
<volume>77</volume>
<numero>6</numero>
<issue>6</issue>
<page-range>572-80</page-range></nlm-citation>
</ref>
<ref id="B9">
<label>9</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Visscher]]></surname>
<given-names><![CDATA[PM]]></given-names>
</name>
<name>
<surname><![CDATA[Yengo]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Cox]]></surname>
<given-names><![CDATA[NJ]]></given-names>
</name>
<name>
<surname><![CDATA[Wray]]></surname>
<given-names><![CDATA[NR]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Discovery and implications of polygenicity of common diseases]]></article-title>
<source><![CDATA[Science]]></source>
<year>2021</year>
<volume>373</volume>
<numero>6562</numero>
<issue>6562</issue>
<page-range>1468-73</page-range></nlm-citation>
</ref>
<ref id="B10">
<label>10</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Talmud]]></surname>
<given-names><![CDATA[PJ]]></given-names>
</name>
<name>
<surname><![CDATA[Shah]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Whittall]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Futema]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Howard]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Cooper]]></surname>
<given-names><![CDATA[JA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia:A case-control study]]></article-title>
<source><![CDATA[Lancet]]></source>
<year>2013</year>
<volume>381</volume>
<page-range>1293-301</page-range></nlm-citation>
</ref>
<ref id="B11">
<label>11</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Dron]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Ban]]></surname>
<given-names><![CDATA[MR]]></given-names>
</name>
<name>
<surname><![CDATA[Robinson]]></surname>
<given-names><![CDATA[JF]]></given-names>
</name>
<name>
<surname><![CDATA[McIntyre]]></surname>
<given-names><![CDATA[AD]]></given-names>
</name>
<name>
<surname><![CDATA[Alazzam]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Polygenic versus monogenic causes of hypercholesterolemia ascertained clinically]]></article-title>
<source><![CDATA[Arterioscler Thromb Vasc Biol]]></source>
<year>2016</year>
<volume>36</volume>
<numero>12</numero>
<issue>12</issue>
</nlm-citation>
</ref>
<ref id="B12">
<label>12</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Futema]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Shah]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Cooper]]></surname>
<given-names><![CDATA[JA]]></given-names>
</name>
<name>
<surname><![CDATA[Li]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Whittall]]></surname>
<given-names><![CDATA[RA]]></given-names>
</name>
<name>
<surname><![CDATA[Sharifi]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries]]></article-title>
<source><![CDATA[Clin Chem]]></source>
<year>2015</year>
<volume>61</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>231-8</page-range></nlm-citation>
</ref>
<ref id="B13">
<label>13</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Rosenberg]]></surname>
<given-names><![CDATA[NA]]></given-names>
</name>
<name>
<surname><![CDATA[Edge]]></surname>
<given-names><![CDATA[MD]]></given-names>
</name>
<name>
<surname><![CDATA[Pritchard]]></surname>
<given-names><![CDATA[JK]]></given-names>
</name>
<name>
<surname><![CDATA[Feldman]]></surname>
<given-names><![CDATA[MW]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Interpreting polygenic scores, polygenic adaptation, and human phenotypic differences]]></article-title>
<source><![CDATA[Evol Med Public Health]]></source>
<year>2019</year>
<numero>1</numero>
<issue>1</issue>
<page-range>26-34</page-range></nlm-citation>
</ref>
<ref id="B14">
<label>14</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Haralambos]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Whatley]]></surname>
<given-names><![CDATA[SD]]></given-names>
</name>
<name>
<surname><![CDATA[Edwards]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Gingell]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Townsend]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Ashfield-Watt]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Clinical experience of scoring criteria for familial hypercholesterolaemia (FH) genetic testing in Wales]]></article-title>
<source><![CDATA[Atherosclerosis]]></source>
<year>2015</year>
<volume>240</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>190-6</page-range></nlm-citation>
</ref>
<ref id="B15">
<label>15</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Miller]]></surname>
<given-names><![CDATA[SA]]></given-names>
</name>
<name>
<surname><![CDATA[Dykes]]></surname>
<given-names><![CDATA[DD]]></given-names>
</name>
<name>
<surname><![CDATA[Polesky]]></surname>
<given-names><![CDATA[HF]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A simple salting out procedure for extracting DNA from human nucleated cells]]></article-title>
<source><![CDATA[Nucleic Acids Res]]></source>
<year>1988</year>
<volume>16</volume>
<numero>3</numero>
<issue>3</issue>
</nlm-citation>
</ref>
<ref id="B16">
<label>16</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ayala-Figueroa]]></surname>
<given-names><![CDATA[RI]]></given-names>
</name>
<name>
<surname><![CDATA[Martínez-Miranda]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Estrada-Guzmán]]></surname>
<given-names><![CDATA[JD]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Cálculo de curvas ROC utilizando una hoja de cálculo]]></article-title>
<source><![CDATA[Revista Electrónica de PortalesMedicos.com]]></source>
<year>2019</year>
</nlm-citation>
</ref>
<ref id="B17">
<label>17</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Futema]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Bourbon]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Williams]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Humphries]]></surname>
<given-names><![CDATA[SE]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Clinical utility of the polygenic LDL-C SNP score in familial hypercholesterolemia]]></article-title>
<source><![CDATA[Atherosclerosis]]></source>
<year>2018</year>
<volume>277</volume>
<page-range>457-63</page-range></nlm-citation>
</ref>
<ref id="B18">
<label>18</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Rieck]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Bardey]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Grenkowitz]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Bertram]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Helmuth]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Mischung]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia]]></article-title>
<source><![CDATA[Clin Genet]]></source>
<year>2020</year>
<volume>98</volume>
<numero>5</numero>
<issue>5</issue>
<page-range>457-67</page-range></nlm-citation>
</ref>
<ref id="B19">
<label>19</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Lima]]></surname>
<given-names><![CDATA[IR]]></given-names>
</name>
<name>
<surname><![CDATA[Tada]]></surname>
<given-names><![CDATA[MT]]></given-names>
</name>
<name>
<surname><![CDATA[Oliveira]]></surname>
<given-names><![CDATA[TGM]]></given-names>
</name>
<name>
<surname><![CDATA[Jannes]]></surname>
<given-names><![CDATA[CE]]></given-names>
</name>
<name>
<surname><![CDATA[Bensenor]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Lotufo]]></surname>
<given-names><![CDATA[PA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Polygenic risk score for hypercholesterolemia in a Brazilian familial hypercholesterolemia cohort]]></article-title>
<source><![CDATA[Atheroscler Plus]]></source>
<year>2022</year>
<volume>28</volume>
<numero>49</numero>
<issue>49</issue>
<page-range>47-55</page-range></nlm-citation>
</ref>
<ref id="B20">
<label>20</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Medeiros]]></surname>
<given-names><![CDATA[AM]]></given-names>
</name>
<name>
<surname><![CDATA[Alves]]></surname>
<given-names><![CDATA[AC]]></given-names>
</name>
<name>
<surname><![CDATA[Miranda]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Chora]]></surname>
<given-names><![CDATA[JR]]></given-names>
</name>
<name>
<surname><![CDATA[Bourbon]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[;Investigators of the Portuguese FH Study. Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype]]></article-title>
<source><![CDATA[J Lipid Res]]></source>
<year>2024</year>
<volume>65</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>100490</page-range></nlm-citation>
</ref>
<ref id="B21">
<label>21</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Sala]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Penacino]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Corach]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Comparison of allele frequencies of eight STR loci from Argentinian Amerindian and European populations]]></article-title>
<source><![CDATA[Hum Biol]]></source>
<year>1998</year>
<volume>70</volume>
<numero>5</numero>
<issue>5</issue>
<page-range>937-47</page-range></nlm-citation>
</ref>
<ref id="B22">
<label>22</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Bobillo]]></surname>
<given-names><![CDATA[MC]]></given-names>
</name>
<name>
<surname><![CDATA[Zimmermann]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Sala]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Huber]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Röck]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Bandelt]]></surname>
<given-names><![CDATA[HJ]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Amerindian mitochondrial DNA haplogroups predominate in the population of Argentina:towards a first nationwide forensic mitochondrial DNA sequence database]]></article-title>
<source><![CDATA[Int J Legal Med]]></source>
<year>2010</year>
<volume>124</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>263-8</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
