Cargando…
Genetic Analysis of Iranian Patients with Familial Hypercholesterolemia
BACKGROUND: Familial hypercholesterolemia (FH) is a frequent autosomal dominant disorder of lipoprotein metabolism. This disorder is generally caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B 100 (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes....
Autores principales: | , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Pasteur Institute
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786657/ https://www.ncbi.nlm.nih.gov/pubmed/28734274 http://dx.doi.org/10.22034/ibj.22.2.117 |
_version_ | 1783295810060943360 |
---|---|
author | Ekrami, Mahdis Torabi, Maryam Ghafouri-Fard, Soudeh Mowla, Javad Soltani, Bahram Mohammad Hashemi-Gorji, Feyzollah Mohebbi, Zahra Miryounesi, Mohammad |
author_facet | Ekrami, Mahdis Torabi, Maryam Ghafouri-Fard, Soudeh Mowla, Javad Soltani, Bahram Mohammad Hashemi-Gorji, Feyzollah Mohebbi, Zahra Miryounesi, Mohammad |
author_sort | Ekrami, Mahdis |
collection | PubMed |
description | BACKGROUND: Familial hypercholesterolemia (FH) is a frequent autosomal dominant disorder of lipoprotein metabolism. This disorder is generally caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B 100 (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. In the present study, we aimed at identifying the common LDLR and APOB gene mutations in an Iranian population. METHODS: Eighty unrelated Iranian patients with FH entered the study, based on Simon Broome diagnostic criteria. All samples were screened for two common APOB gene mutations, including R3500Q and R3500W, by the means of ARMS-PCR and PCR- RFLP assays, respectively. In addition, exons 3, 4, 9, and 10 of LDLR gene were sequenced in all patients. RESULTS: A novel mutation in exon 3 (C95W) and a previously described mutation in exon 4 (D139H) of LDLR gene were found. Three previously reported polymorphisms in LDLR gene as well as three novel polymorphisms were detected in the patients. However, in the studied population, no common mutations were observed in APOB gene. CONCLUSION: The results of our study imply that the genetic basis of FH in Iranian patients is different from other populations. |
format | Online Article Text |
id | pubmed-5786657 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Pasteur Institute |
record_format | MEDLINE/PubMed |
spelling | pubmed-57866572018-03-01 Genetic Analysis of Iranian Patients with Familial Hypercholesterolemia Ekrami, Mahdis Torabi, Maryam Ghafouri-Fard, Soudeh Mowla, Javad Soltani, Bahram Mohammad Hashemi-Gorji, Feyzollah Mohebbi, Zahra Miryounesi, Mohammad Iran Biomed J Full Length BACKGROUND: Familial hypercholesterolemia (FH) is a frequent autosomal dominant disorder of lipoprotein metabolism. This disorder is generally caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B 100 (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. In the present study, we aimed at identifying the common LDLR and APOB gene mutations in an Iranian population. METHODS: Eighty unrelated Iranian patients with FH entered the study, based on Simon Broome diagnostic criteria. All samples were screened for two common APOB gene mutations, including R3500Q and R3500W, by the means of ARMS-PCR and PCR- RFLP assays, respectively. In addition, exons 3, 4, 9, and 10 of LDLR gene were sequenced in all patients. RESULTS: A novel mutation in exon 3 (C95W) and a previously described mutation in exon 4 (D139H) of LDLR gene were found. Three previously reported polymorphisms in LDLR gene as well as three novel polymorphisms were detected in the patients. However, in the studied population, no common mutations were observed in APOB gene. CONCLUSION: The results of our study imply that the genetic basis of FH in Iranian patients is different from other populations. Pasteur Institute 2018-03 /pmc/articles/PMC5786657/ /pubmed/28734274 http://dx.doi.org/10.22034/ibj.22.2.117 Text en Copyright: © Iranian Biomedical Journal http://creativecommons.org/licenses/by/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License, (http://creativecommons.org/licenses/by/3.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Full Length Ekrami, Mahdis Torabi, Maryam Ghafouri-Fard, Soudeh Mowla, Javad Soltani, Bahram Mohammad Hashemi-Gorji, Feyzollah Mohebbi, Zahra Miryounesi, Mohammad Genetic Analysis of Iranian Patients with Familial Hypercholesterolemia |
title | Genetic Analysis of Iranian Patients with Familial Hypercholesterolemia |
title_full | Genetic Analysis of Iranian Patients with Familial Hypercholesterolemia |
title_fullStr | Genetic Analysis of Iranian Patients with Familial Hypercholesterolemia |
title_full_unstemmed | Genetic Analysis of Iranian Patients with Familial Hypercholesterolemia |
title_short | Genetic Analysis of Iranian Patients with Familial Hypercholesterolemia |
title_sort | genetic analysis of iranian patients with familial hypercholesterolemia |
topic | Full Length |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786657/ https://www.ncbi.nlm.nih.gov/pubmed/28734274 http://dx.doi.org/10.22034/ibj.22.2.117 |
work_keys_str_mv | AT ekramimahdis geneticanalysisofiranianpatientswithfamilialhypercholesterolemia AT torabimaryam geneticanalysisofiranianpatientswithfamilialhypercholesterolemia AT ghafourifardsoudeh geneticanalysisofiranianpatientswithfamilialhypercholesterolemia AT mowlajavad geneticanalysisofiranianpatientswithfamilialhypercholesterolemia AT soltanibahrammohammad geneticanalysisofiranianpatientswithfamilialhypercholesterolemia AT hashemigorjifeyzollah geneticanalysisofiranianpatientswithfamilialhypercholesterolemia AT mohebbizahra geneticanalysisofiranianpatientswithfamilialhypercholesterolemia AT miryounesimohammad geneticanalysisofiranianpatientswithfamilialhypercholesterolemia |