Literature DB >> 24239020

Consanguinity in Saudi Arabia: a unique opportunity for pediatric kidney research.

Jameela A Kari1, Detlef Bockenhauer2, Horia Stanescu2, Mamdooh Gari3, Robert Kleta2, Ajay K Singh4.   

Abstract

Identification of disease-related genes is a critical step in understanding the molecular basis of disease and developing targeted therapies. The genetic study of diseases occurring in the offspring of consanguineous unions is a powerful way to discover new disease genes. Pediatric nephrology provides an excellent example because ∼70% of cases of kidney disease in childhood are congenital with a likely genetic basis. This percentage is likely to be even higher in countries with a high consanguinity rate, such as the Kingdom of Saudi Arabia. However, there are a number of challenges, such as cultural, legal, and religious restrictions, that should be appreciated before carrying out genetic research in a tradition-bound country. In this article, we discuss the background, opportunities, and challenges involved with this unique opportunity to conduct studies of such genetic disorders. Keys to success include collaboration and an understanding of local traditions and laws.
Copyright © 2014 National Kidney Foundation, Inc. All rights reserved.

Entities:  

Keywords:  Consanguinity; Saudi Arabia; gene discovery; genetic disease; homozygosity mapping; identical by descent (IBD); kidney research; linkage analysis; pediatrics; population differences

Mesh:

Year:  2013        PMID: 24239020     DOI: 10.1053/j.ajkd.2013.08.033

Source DB:  PubMed          Journal:  Am J Kidney Dis        ISSN: 0272-6386            Impact factor:   8.860


  11 in total

1.  Molecular genetics and phenotype/genotype correlation of 5-α reductase deficiency in a highly consanguineous population.

Authors:  Meshael M Alswailem; Ohoud S Alzahrani; Lamyaa Alghofaili; Ebtesam Qasem; Mai Almohanaa; Afaf Alsagheir; Bassam Bin Abbas; Najya A Attia; Adnan Al Shaikh; Ali S Alzahrani
Journal:  Endocrine       Date:  2018-09-29       Impact factor: 3.633

2.  Genetics of congenital and infantile nephrotic syndrome.

Authors:  Sara Nawfal Sharief; Nada Abdullatif Hefni; Walaa Ali Alzahrani; Iman Ibrahim Nazer; Marwa Abdullah Bayazeed; Khalid A Alhasan; Osama Y Safdar; Sherif M El-Desoky; Jameela Abdulaziz Kari
Journal:  World J Pediatr       Date:  2019-02-05       Impact factor: 2.764

3.  Urinary tract infection in children younger than 5 years. Etiology and associated urological anomalies.

Authors:  Wallaa A Garout; Hassan S Kurdi; Abdulrahman H Shilli; Jameela A Kari
Journal:  Saudi Med J       Date:  2015-04       Impact factor: 1.484

4.  Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.

Authors:  Muhammad Arif Nadeem Saqib; Konstantinos Nikopoulos; Ehsan Ullah; Falak Sher Khan; Jamila Iqbal; Rabia Bibi; Afeefa Jarral; Sundus Sajid; Koji M Nishiguchi; Giulia Venturini; Muhammad Ansar; Carlo Rivolta
Journal:  Sci Rep       Date:  2015-05-06       Impact factor: 4.379

5.  Antenatal diagnosis, prevalence, and outcome of congenital anomalies of the kidney and urinary tract in Saudi Arabia.

Authors:  Mahmood Dhahir Al-Mendalawi
Journal:  Urol Ann       Date:  2015 Jan-Mar

6.  Classical V600E and other non-hotspot BRAF mutations in adult differentiated thyroid cancer.

Authors:  Avaniyapuram Kannan Murugan; Ebtesam Qasem; Hindi Al-Hindi; Yufei Shi; Ali S Alzahrani
Journal:  J Transl Med       Date:  2016-07-07       Impact factor: 5.531

7.  OVAS: an open-source variant analysis suite with inheritance modelling.

Authors:  Monika Mozere; Mehmet Tekman; Jameela Kari; Detlef Bockenhauer; Robert Kleta; Horia Stanescu
Journal:  BMC Bioinformatics       Date:  2018-02-08       Impact factor: 3.169

8.  Reply to RE: Steroid-resistant nephrotic syndrome: impact of genetic testing.

Authors:  Jameela Abdulaziz Kari
Journal:  Ann Saudi Med       Date:  2014 May-Jun       Impact factor: 1.526

9.  Outcome of Multi-Cystic Dysplastic Kidneys in Children.

Authors:  Suleiman D Mashat; Sherif M El-Desoky; Jameela Abdulaziz Kari
Journal:  Iran J Pediatr       Date:  2015-10-06       Impact factor: 0.364

10.  The prevalence of renal stones among local residents in Saudi Arabia.

Authors:  Osama Y Safdar; Walaa A Alzahrani; Maan A Kurdi; Abdullah A Ghanim; Sarah A Nagadi; Saleh J Alghamdi; Zaher F Zaher; Shatha M Albokhari
Journal:  J Family Med Prim Care       Date:  2021-02-27
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