Literature DB >> 17652939

Haplotype diversity in four genes (CLCNKA, CLCNKB, BSND, NEDD4L) involved in renal salt reabsorption.

Saba Sile1, Digna R Velez, Niloufar B Gillani, Charles A Alexander, Charles R Alexander, Alfred L George, Scott M Williams.   

Abstract

OBJECTIVE: Differences exist among various populations with regards to hypertension prevalence, severity, progression and response to therapy. Such differences may be due to genetic or environmental factors. We characterized the genetic variation and haplotype diversity of four hypertension candidate genes (CLCNKA, CLCNKB, BSND, NEDD4L) in four different ethnic groups (Caucasian Americans, African-Americans, Han Chinese, and Mexican-Americans).
METHODS: We genotyped 42 single nucleotide polymorphisms across the four genes in equal numbers of each ethnically defined population, then tested for linkage disequilibrium, computed allelic and haplotype frequencies, and compared data across the different ethnic groups.
RESULTS: We identified significant genotype and allele frequency differences among ethnic groups. The strongest differences were observed between African-American and Mexican-Americans and between Caucasian and Mexican-Americans. In addition, haplotype blocks were defined for BSND, CLCNKA_B and NEDD4L in the four populations examined. Completely mismatched ('yin yang') haplotypes were also observed. We found that the number of inferred halpotypes varied gene to gene and in some instances between the populations for a given gene indicating substantial haplotype diversity. The haplotype diversity among the various ethnic populations observed in our study was greater than that reported in Perlegen database.
CONCLUSIONS: Haplotype diversity in hypertension candidate genes has important implications for designing and evaluating candidate gene or genome-wide blood pressure association studies that consider these genes. Copyright 2008 S. Karger AG, Basel.

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Year:  2007        PMID: 17652939      PMCID: PMC2862756          DOI: 10.1159/000106060

Source DB:  PubMed          Journal:  Hum Hered        ISSN: 0001-5652            Impact factor:   0.444


  23 in total

Review 1.  Ethnic differences in hypertension and blood pressure control in the UK.

Authors:  D A Lane; G Y Lip
Journal:  QJM       Date:  2001-07

2.  Testing association of statistically inferred haplotypes with discrete and continuous traits in samples of unrelated individuals.

Authors:  Dmitri V Zaykin; Peter H Westfall; S Stanley Young; Maha A Karnoub; Michael J Wagner; Margaret G Ehm
Journal:  Hum Hered       Date:  2002       Impact factor: 0.444

3.  The structure of haplotype blocks in the human genome.

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4.  Linkage disequilibrium in human populations.

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5.  Salt wasting and deafness resulting from mutations in two chloride channels.

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7.  Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.

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8.  Genomewide distribution of high-frequency, completely mismatching SNP haplotype pairs observed to be common across human populations.

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9.  Activating mutation of the renal epithelial chloride channel ClC-Kb predisposing to hypertension.

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4.  Identification of candidate genes for dyslexia susceptibility on chromosome 18.

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6.  Common Variants for Heart Failure.

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7.  A Chinese Girl with Bartter Syndrome Type III due to a Novel Mutation and/or Single Nucleotide Polymorphisms (SNPs) in CLCNKB Gene.

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Review 8.  Inherited Renal Tubulopathies-Challenges and Controversies.

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