Resequencing of the CCL5 and CCR5 genes and investigation of variants for association with diabetic nephropathy

Kerry A. Pettigrew; Amy Jayne McKnight; Christopher C. Patterson; Jill Kilner; Denise M. Sadlier; Alexander P. Maxwell

doi:10.1038/jhg.2010.15

Resequencing of the CCL5 and CCR5 genes and investigation of variants for association with diabetic nephropathy

Kerry A. Pettigrew, Amy Jayne McKnight, Christopher C. Patterson, Jill Kilner, Denise M. Sadlier, Alexander P. Maxwell

School of Medicine

Research output: Contribution to journal › Article › peer-review

Abstract

Chemokine (C-C motif) ligand 5 (CCL5) and chemokine (C-C motif) receptor 5 are implicated in the pathogenesis of diabetic nephropathy (DN). We hypothesize that variants in these genes may be associated with DN. The CCL5 and chemokine receptor type 5 (CCR5) genes were resequenced, variants identified (n=58), allele frequencies determined in 46 individuals (92 chromosomes) and efficient haplotype tag single-nucleotide polymorphisms (htSNPs) selected to effectively evaluate the common variation in these genes. One reportedly functional gene variant and eight htSNPs were genotyped in a case-control association study involving Caucasian individuals with type 1 diabetes (267 cases with DN and 442 non-nephropathic diabetic controls). Genotyping was performed using MassARRAY iPLEX, TaqMan, gel electrophoresis and direct capillary sequencing. After correction for multiple testing, there were no statistically significant associations between variants in the CCL5 and CCR5 genes and DN. Journal of Human Genetics (2010) 55, 248-251; doi:10.1038/jhg.2010.15; published online 5 March 2010

Original language	English
Pages (from-to)	248-251
Number of pages	4
Journal	Journal of Human Genetics
Volume	55
Issue number	4
DOIs	https://doi.org/10.1038/jhg.2010.15
Publication status	Published - Apr 2010

Keywords

association
chemokine
CCL5
CCR5
diabetic nephropathy
resequencing
TNF-ALPHA
PROMOTER POLYMORPHISM
RANTES PRODUCTION
ASIAN INDIANS
RECEPTOR
CELLS
EXPRESSION
CHEMOKINE
MELLITUS
DISEASE

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1038/jhg.2010.15

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title = "Resequencing of the CCL5 and CCR5 genes and investigation of variants for association with diabetic nephropathy",

abstract = "Chemokine (C-C motif) ligand 5 (CCL5) and chemokine (C-C motif) receptor 5 are implicated in the pathogenesis of diabetic nephropathy (DN). We hypothesize that variants in these genes may be associated with DN. The CCL5 and chemokine receptor type 5 (CCR5) genes were resequenced, variants identified (n=58), allele frequencies determined in 46 individuals (92 chromosomes) and efficient haplotype tag single-nucleotide polymorphisms (htSNPs) selected to effectively evaluate the common variation in these genes. One reportedly functional gene variant and eight htSNPs were genotyped in a case-control association study involving Caucasian individuals with type 1 diabetes (267 cases with DN and 442 non-nephropathic diabetic controls). Genotyping was performed using MassARRAY iPLEX, TaqMan, gel electrophoresis and direct capillary sequencing. After correction for multiple testing, there were no statistically significant associations between variants in the CCL5 and CCR5 genes and DN. Journal of Human Genetics (2010) 55, 248-251; doi:10.1038/jhg.2010.15; published online 5 March 2010",

keywords = "association, chemokine, CCL5, CCR5, diabetic nephropathy, resequencing, TNF-ALPHA, PROMOTER POLYMORPHISM, RANTES PRODUCTION, ASIAN INDIANS, RECEPTOR, CELLS, EXPRESSION, CHEMOKINE, MELLITUS, DISEASE",

author = "Pettigrew, {Kerry A.} and McKnight, {Amy Jayne} and Patterson, {Christopher C.} and Jill Kilner and Sadlier, {Denise M.} and Maxwell, {Alexander P.}",

year = "2010",

month = apr,

doi = "10.1038/jhg.2010.15",

language = "English",

volume = "55",

pages = "248--251",

journal = "Journal of Human Genetics",

publisher = "Springer",

number = "4",

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TY - JOUR

T1 - Resequencing of the CCL5 and CCR5 genes and investigation of variants for association with diabetic nephropathy

AU - Pettigrew, Kerry A.

AU - McKnight, Amy Jayne

AU - Patterson, Christopher C.

AU - Kilner, Jill

AU - Sadlier, Denise M.

AU - Maxwell, Alexander P.

PY - 2010/4

Y1 - 2010/4

N2 - Chemokine (C-C motif) ligand 5 (CCL5) and chemokine (C-C motif) receptor 5 are implicated in the pathogenesis of diabetic nephropathy (DN). We hypothesize that variants in these genes may be associated with DN. The CCL5 and chemokine receptor type 5 (CCR5) genes were resequenced, variants identified (n=58), allele frequencies determined in 46 individuals (92 chromosomes) and efficient haplotype tag single-nucleotide polymorphisms (htSNPs) selected to effectively evaluate the common variation in these genes. One reportedly functional gene variant and eight htSNPs were genotyped in a case-control association study involving Caucasian individuals with type 1 diabetes (267 cases with DN and 442 non-nephropathic diabetic controls). Genotyping was performed using MassARRAY iPLEX, TaqMan, gel electrophoresis and direct capillary sequencing. After correction for multiple testing, there were no statistically significant associations between variants in the CCL5 and CCR5 genes and DN. Journal of Human Genetics (2010) 55, 248-251; doi:10.1038/jhg.2010.15; published online 5 March 2010

AB - Chemokine (C-C motif) ligand 5 (CCL5) and chemokine (C-C motif) receptor 5 are implicated in the pathogenesis of diabetic nephropathy (DN). We hypothesize that variants in these genes may be associated with DN. The CCL5 and chemokine receptor type 5 (CCR5) genes were resequenced, variants identified (n=58), allele frequencies determined in 46 individuals (92 chromosomes) and efficient haplotype tag single-nucleotide polymorphisms (htSNPs) selected to effectively evaluate the common variation in these genes. One reportedly functional gene variant and eight htSNPs were genotyped in a case-control association study involving Caucasian individuals with type 1 diabetes (267 cases with DN and 442 non-nephropathic diabetic controls). Genotyping was performed using MassARRAY iPLEX, TaqMan, gel electrophoresis and direct capillary sequencing. After correction for multiple testing, there were no statistically significant associations between variants in the CCL5 and CCR5 genes and DN. Journal of Human Genetics (2010) 55, 248-251; doi:10.1038/jhg.2010.15; published online 5 March 2010

KW - association

KW - chemokine

KW - CCL5

KW - CCR5

KW - diabetic nephropathy

KW - resequencing

KW - TNF-ALPHA

KW - PROMOTER POLYMORPHISM

KW - RANTES PRODUCTION

KW - ASIAN INDIANS

KW - RECEPTOR

KW - CELLS

KW - EXPRESSION

KW - CHEMOKINE

KW - MELLITUS

KW - DISEASE

U2 - 10.1038/jhg.2010.15

DO - 10.1038/jhg.2010.15

M3 - Article

VL - 55

SP - 248

EP - 251

JO - Journal of Human Genetics

JF - Journal of Human Genetics

IS - 4

ER -

Resequencing of the CCL5 and CCR5 genes and investigation of variants for association with diabetic nephropathy

Abstract

Keywords

UN SDGs

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