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

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.

Original language	English
Pages (from-to)	248–251
Number of pages	4
Journal	Journal of Human Genetics
Volume	55
Early online date	5 Mar 2010
DOIs	https://doi.org/10.1038/jhg.2010.15
Publication status	Published - 1 Apr 2010
Externally published	Yes

Access to Document

10.1038/jhg.2010.15Licence: Unspecified

Cite this

@article{8539b446b04044d195e219822cc98a10,

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.",

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,

day = "1",

doi = "10.1038/jhg.2010.15",

language = "English",

volume = "55",

pages = "248–251",

journal = "Journal of Human Genetics",

issn = "1434-5161",

publisher = "Springer Nature",

}

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 - 2010/4/1

Y1 - 2010/4/1

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.

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.

UR - http://europepmc.org/abstract/med/20203694

U2 - 10.1038/jhg.2010.15

DO - 10.1038/jhg.2010.15

M3 - Article

C2 - 20203694

SN - 1434-5161

VL - 55

SP - 248

EP - 251

JO - Journal of Human Genetics

JF - Journal of Human Genetics

ER -

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

Abstract

Access to Document

Other files and links

Fingerprint

Cite this