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Conference Paper: Genome-wide linkage scan for familial IgA nephropathy among southeast Asian Chinese: evidence for a suggestive novel susceptibility locus on chromosome 8p23
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TitleGenome-wide linkage scan for familial IgA nephropathy among southeast Asian Chinese: evidence for a suggestive novel susceptibility locus on chromosome 8p23
 
AuthorsHsu, SI
Niu, Y
Davila, S
Leung, JCK
Lam, MF
Tang, SCW
Lai, KN
 
Issue Date2009
 
PublisherAmerican Society of Nephrology.
 
CitationRenal Week 2009 - The 2009 Annual Meeting of the American Society of Nephrology (ASN), San Diego, CA., 27 October-1 November 2009. In Renal Week 2009 Digital Abstract Book, 2009, p. 434A [How to Cite?]
 
AbstractIgA nephropathy (IgAN) is the most common primary glomerulonephritis worldwide, with a high incidence and prevalence among Asians. Three genome-wide studies of familial IgAN among Caucasians have identified two major susceptibility loci on chromosomes 6q22 and 2q36, and two additional loci with suggestive linkage to IgAN on chromosomes 4q26-31 and 17q12-22. We report the preliminary results of a genome-wide scan of a large 4-generation Singaporean Chinese family (F66) for which we ascertained DNA samples for 66 members, including 9 affected members. Linkage analysis at 10 cM resolution was performed using the ABI PRISM Linkage Mapping Set Ver 2.5. By parametric analysis (assuming an autosomal dominant inheritance, a disease allele frequency of 0.001, phenocopy rate of 0.01, and penetrance of 75%), a region of suggestive linkage (maximum multipoint logarithm of odds [LOD] score of 2.23) was identified on chromosomes 8p23. By non-parametric analysis, a significant linkage to chromosome 8p23 (maximum multipoint LOD score 3.89, p-value 0.004) was found. Two additional microsatellite markers were genotyped in F66 along with 6 additional Chinese IgAN families from Hong Kong. Parametric analysis of all 7 families generated a maximum heterogeneous LOD score of 2.77 (α=1.0) over a region of 9.9 cM. The α score of 1.0 indicates genetic homogeneity at the 8p23 locus, suggestive of an “Asian-specific” susceptibility locus for IgAN. We are currently genotyping additional markers in F66 and a total of 23 Hong Kong families in order to conduct an “affected only” analysis to provide definitive evidence for linkage of familial IgAN among Southeast Asian Chinese to a novel susceptibility locus on chromosome 8p23.
 
DescriptionFriday Poster Session - Development/Cystic and Other Inherited Kidney Diseases/Genetics of Common Kidney Diseases/Systems Biology: Genetic Epidemiology/Gene Mapping-Common Kidney Diseases: No. F-PO1405
 
DC FieldValue
dc.contributor.authorHsu, SI
 
dc.contributor.authorNiu, Y
 
dc.contributor.authorDavila, S
 
dc.contributor.authorLeung, JCK
 
dc.contributor.authorLam, MF
 
dc.contributor.authorTang, SCW
 
dc.contributor.authorLai, KN
 
dc.date.accessioned2010-10-31T12:26:54Z
 
dc.date.available2010-10-31T12:26:54Z
 
dc.date.issued2009
 
dc.description.abstractIgA nephropathy (IgAN) is the most common primary glomerulonephritis worldwide, with a high incidence and prevalence among Asians. Three genome-wide studies of familial IgAN among Caucasians have identified two major susceptibility loci on chromosomes 6q22 and 2q36, and two additional loci with suggestive linkage to IgAN on chromosomes 4q26-31 and 17q12-22. We report the preliminary results of a genome-wide scan of a large 4-generation Singaporean Chinese family (F66) for which we ascertained DNA samples for 66 members, including 9 affected members. Linkage analysis at 10 cM resolution was performed using the ABI PRISM Linkage Mapping Set Ver 2.5. By parametric analysis (assuming an autosomal dominant inheritance, a disease allele frequency of 0.001, phenocopy rate of 0.01, and penetrance of 75%), a region of suggestive linkage (maximum multipoint logarithm of odds [LOD] score of 2.23) was identified on chromosomes 8p23. By non-parametric analysis, a significant linkage to chromosome 8p23 (maximum multipoint LOD score 3.89, p-value 0.004) was found. Two additional microsatellite markers were genotyped in F66 along with 6 additional Chinese IgAN families from Hong Kong. Parametric analysis of all 7 families generated a maximum heterogeneous LOD score of 2.77 (α=1.0) over a region of 9.9 cM. The α score of 1.0 indicates genetic homogeneity at the 8p23 locus, suggestive of an “Asian-specific” susceptibility locus for IgAN. We are currently genotyping additional markers in F66 and a total of 23 Hong Kong families in order to conduct an “affected only” analysis to provide definitive evidence for linkage of familial IgAN among Southeast Asian Chinese to a novel susceptibility locus on chromosome 8p23.
 
dc.descriptionFriday Poster Session - Development/Cystic and Other Inherited Kidney Diseases/Genetics of Common Kidney Diseases/Systems Biology: Genetic Epidemiology/Gene Mapping-Common Kidney Diseases: No. F-PO1405
 
dc.description.otherRenal Week 2009 - The 2009 Annual Meeting of the American Society of Nephrology (ASN), San Diego, CA., 27 October-1 November 2009. In Renal Week 2009 Digital Abstract Book, 2009, p. 434A
 
dc.identifier.citationRenal Week 2009 - The 2009 Annual Meeting of the American Society of Nephrology (ASN), San Diego, CA., 27 October-1 November 2009. In Renal Week 2009 Digital Abstract Book, 2009, p. 434A [How to Cite?]
 
dc.identifier.epage434A
 
dc.identifier.hkuros174084
 
dc.identifier.spage434A
 
dc.identifier.urihttp://hdl.handle.net/10722/126407
 
dc.languageeng
 
dc.publisherAmerican Society of Nephrology.
 
dc.relation.ispartofRenal Week 2009 Digital Abstract Book
 
dc.titleGenome-wide linkage scan for familial IgA nephropathy among southeast Asian Chinese: evidence for a suggestive novel susceptibility locus on chromosome 8p23
 
dc.typeConference_Paper
 
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<contributor.author>Niu, Y</contributor.author>
<contributor.author>Davila, S</contributor.author>
<contributor.author>Leung, JCK</contributor.author>
<contributor.author>Lam, MF</contributor.author>
<contributor.author>Tang, SCW</contributor.author>
<contributor.author>Lai, KN</contributor.author>
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<date.available>2010-10-31T12:26:54Z</date.available>
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<description.abstract>IgA nephropathy (IgAN) is the most common primary glomerulonephritis worldwide, with a high incidence and prevalence among Asians. Three genome-wide studies of familial IgAN among Caucasians have identified two major susceptibility loci on chromosomes 6q22 and 2q36, and two additional loci with suggestive linkage to IgAN on chromosomes 4q26-31 and 17q12-22. We report the preliminary results of a genome-wide scan of a large 4-generation Singaporean Chinese family (F66) for which we ascertained DNA samples for 66 members, including 9 affected members. Linkage analysis at 10 cM resolution was performed using the ABI PRISM Linkage Mapping Set Ver 2.5. By parametric analysis (assuming an autosomal dominant inheritance, a disease allele frequency of 0.001, phenocopy rate of 0.01, and penetrance of 75%), a region of suggestive linkage (maximum multipoint logarithm of odds [LOD] score of 2.23) was identified on chromosomes 8p23. By non-parametric analysis, a significant linkage to chromosome 8p23 (maximum multipoint LOD score 3.89, p-value 0.004) was found. Two additional microsatellite markers were genotyped in F66 along with 6 additional Chinese IgAN families from Hong Kong. Parametric analysis of all 7 families generated a maximum heterogeneous LOD score of 2.77 (&#945;=1.0) over a region of 9.9 cM. The &#945; score of 1.0 indicates genetic homogeneity at the 8p23 locus, suggestive of an &#8220;Asian-specific&#8221; susceptibility locus for IgAN. We are currently genotyping additional markers in F66 and a total of 23 Hong Kong families in order to conduct an &#8220;affected only&#8221; analysis to provide definitive evidence for linkage of familial IgAN among Southeast Asian Chinese to a novel susceptibility locus on chromosome 8p23.</description.abstract>
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