Literature DB >> 23254893

A family-based association study after genome-wide linkage analysis identified two genetic loci for renal function in a Mongolian population.

Hansoo Park1, Hyun-Jin Kim, Seungbok Lee, Yun Joo Yoo, Young Seok Ju, Jung Eun Lee, Sung-Il Cho, Joohon Sung, Jong-Il Kim, Jeong-Sun Seo.   

Abstract

The estimated glomerular filtration rate is a well-known measure of renal function and is widely used to follow the course of disease. Although there have been several investigations establishing the genetic background contributing to renal function, Asian populations have rarely been used in these genome-wide studies. Here, we aimed to find candidate genetic determinants of renal function in 1007 individuals from 73 extended families of Mongolian origin. Linkage analysis found two suggestive regions near 9q21 (logarithm of odds (LOD) 2.82) and 15q15 (LOD 2.70). The subsequent family-based association study found 2 and 10 significant single-nucleotide polymorphisms (SNPs) in each region, respectively. The strongest SNPs on chromosome 9 and 15 were rs17400257 and rs1153831 with P-values of 7.21 × 10(-9) and 2.47 × 10(-11), respectively. Genes located near these SNPs are considered candidates for determining renal function and include FRMD3, GATM, and SPATA5L1. Thus, we identified possible loci that determine renal function in an isolated Asian population. Consistent with previous reports, our study found genes linked and associated with renal function in other populations.

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Year:  2012        PMID: 23254893     DOI: 10.1038/ki.2012.389

Source DB:  PubMed          Journal:  Kidney Int        ISSN: 0085-2538            Impact factor:   10.612


  9 in total

1.  Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.

Authors:  Markus Reichold; Enriko D Klootwijk; Joerg Reinders; Edgar A Otto; Mario Milani; Carsten Broeker; Chris Laing; Julia Wiesner; Sulochana Devi; Weibin Zhou; Roland Schmitt; Ines Tegtmeier; Christina Sterner; Hannes Doellerer; Kathrin Renner; Peter J Oefner; Katja Dettmer; Johann M Simbuerger; Ralph Witzgall; Horia C Stanescu; Simona Dumitriu; Daniela Iancu; Vaksha Patel; Monika Mozere; Mehmet Tekman; Graciana Jaureguiberry; Naomi Issler; Anne Kesselheim; Stephen B Walsh; Daniel P Gale; Alexander J Howie; Joana R Martins; Andrew M Hall; Michael Kasgharian; Kevin O'Brien; Carlos R Ferreira; Paldeep S Atwal; Mahim Jain; Alexander Hammers; Geoffrey Charles-Edwards; Chi-Un Choe; Dirk Isbrandt; Alberto Cebrian-Serrano; Ben Davies; Richard N Sandford; Christopher Pugh; David S Konecki; Sue Povey; Detlef Bockenhauer; Uta Lichter-Konecki; William A Gahl; Robert J Unwin; Richard Warth; Robert Kleta
Journal:  J Am Soc Nephrol       Date:  2018-04-13       Impact factor: 10.121

Review 2.  Recent progress in the genetics of diabetic microvascular complications.

Authors:  Yi-Cheng Chang; Emily Yun-Chia Chang; Lee-Ming Chuang
Journal:  World J Diabetes       Date:  2015-06-10

3.  Diabetic nephropathy: FRMD3 in diabetic nephropathy--guilt by association.

Authors:  Nicholette D Palmer; Barry I Freedman
Journal:  Nat Rev Nephrol       Date:  2013-04-30       Impact factor: 28.314

4.  Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.

Authors:  Elodie M Richard; Somayeh Bakhtiari; Ashley P L Marsh; Rauan Kaiyrzhanov; Matias Wagner; Sheetal Shetty; Alex Pagnozzi; Sandra M Nordlie; Brandon S Guida; Patricia Cornejo; Helen Magee; James Liu; Bethany Y Norton; Richard I Webster; Lisa Worgan; Hakon Hakonarson; Jiankang Li; Yiran Guo; Mahim Jain; Alyssa Blesson; Lance H Rodan; Mary-Alice Abbott; Anne Comi; Julie S Cohen; Bader Alhaddad; Thomas Meitinger; Dominic Lenz; Andreas Ziegler; Urania Kotzaeridou; Theresa Brunet; Anna Chassevent; Constance Smith-Hicks; Joseph Ekstein; Tzvi Weiden; Andreas Hahn; Nazira Zharkinbekova; Peter Turnpenny; Arianna Tucci; Melissa Yelton; Rita Horvath; Serdal Gungor; Semra Hiz; Yavuz Oktay; Hanns Lochmuller; Marcella Zollino; Manuela Morleo; Giuseppe Marangi; Vincenzo Nigro; Annalaura Torella; Michele Pinelli; Simona Amenta; Ralf A Husain; Benita Grossmann; Marion Rapp; Claudia Steen; Iris Marquardt; Mona Grimmel; Ute Grasshoff; G Christoph Korenke; Marta Owczarek-Lipska; John Neidhardt; Francesca Clementina Radio; Cecilia Mancini; Dianela Judith Claps Sepulveda; Kirsty McWalter; Amber Begtrup; Amy Crunk; Maria J Guillen Sacoto; Richard Person; Rhonda E Schnur; Maria Margherita Mancardi; Florian Kreuder; Pasquale Striano; Federico Zara; Wendy K Chung; Warren A Marks; Clare L van Eyk; Dani L Webber; Mark A Corbett; Kelly Harper; Jesia G Berry; Alastair H MacLennan; Jozef Gecz; Marco Tartaglia; Vincenzo Salpietro; John Christodoulou; Jan Kaslin; Sergio Padilla-Lopez; Kaya Bilguvar; Alexander Munchau; Zubair M Ahmed; Robert B Hufnagel; Michael C Fahey; Reza Maroofian; Henry Houlden; Heinrich Sticht; Shrikant M Mane; Aboulfazl Rad; Barbara Vona; Sheng Chih Jin; Tobias B Haack; Christine Makowski; Yoel Hirsch; Saima Riazuddin; Michael C Kruer
Journal:  Am J Hum Genet       Date:  2021-10-07       Impact factor: 11.025

Review 5.  Early detection of diabetic kidney disease: Present limitations and future perspectives.

Authors:  Chih-Hung Lin; Yi-Cheng Chang; Lee-Ming Chuang
Journal:  World J Diabetes       Date:  2016-07-25

6.  Evaluation of neurotrophic tyrosine receptor kinase 2 (NTRK2) as a positional candidate gene for variation in estimated glomerular filtration rate (eGFR) in Mexican American participants of San Antonio Family Heart study.

Authors:  Farook Thameem; V Saroja Voruganti; John Blangero; Anthony G Comuzzie; Hanna E Abboud
Journal:  J Biomed Sci       Date:  2015-03-25       Impact factor: 8.410

7.  Family-Based Association Study of Pulmonary Function in a Population in Northeast Asia.

Authors:  Ho-Young Son; Seong-Wook Sohn; Sun-Hwa Im; Hyun-Jin Kim; Mi Kyeong Lee; Bayasgalan Gombojav; Hyouk-Soo Kwon; Daniel S Park; Hyung-Lae Kim; Kyung-Up Min; Joohon Sung; Jeong-Sun Seo; Jong-Il Kim
Journal:  PLoS One       Date:  2015-10-02       Impact factor: 3.240

Review 8.  FRMD3 gene: its role in diabetic kidney disease. A narrative review.

Authors:  Marjoriê Piuco Buffon; Denise Alves Sortica; Fernando Gerchman; Daisy Crispim; Luís Henrique Canani
Journal:  Diabetol Metab Syndr       Date:  2015-12-30       Impact factor: 3.320

9.  Genetic diversity and natural selection footprints of the glycine amidinotransferase gene in various human populations.

Authors:  Asifullah Khan; Lei Tian; Chao Zhang; Kai Yuan; Shuhua Xu
Journal:  Sci Rep       Date:  2016-01-05       Impact factor: 4.379

  9 in total

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