RGD Reference Report - Variation of the McKusick-Kaufman gene and studies of relationships with common forms of obesity. - Rat Genome Database

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Variation of the McKusick-Kaufman gene and studies of relationships with common forms of obesity.

Authors: Andersen, KL  Echwald, SM  Larsen, LH  Hamid, YH  Glumer, C  Jorgensen, T  Borch-Johnsen, K  Andersen, T  Sorensen, TI  Hansen, T  Pedersen, O 
Citation: Andersen KL, etal., J Clin Endocrinol Metab. 2005 Jan;90(1):225-30. Epub 2004 Oct 13.
RGD ID: 1601414
Pubmed: PMID:15483080   (View Abstract at PubMed)
DOI: DOI:10.1210/jc.2004-0465   (Journal Full-text)

Obesity is a prominent feature of the Bardet-Biedl syndrome (BBS), one subset of which, BBS6, is due to mutations in the chaperonin-like gene termed the McKusick-Kaufman syndrome (MKKS) gene. We tested whether variation in MKKS contributes to common and probably polygenic forms of obesity by performing mutation analysis of the coding region in 60 Danish white men with juvenile-onset obesity. Five variants were identified, including two synonymous mutations (Pro(39)Pro and Ile(178)Ile) and three nonsynonymous variants (Ala(242)Ser, Arg(517)Cys, and Gly(532)Val). Furthermore, the rare Ala(242)Ser was identified in two families and showed partial cosegregation with obesity. The Pro(39)Pro, Ile(178)Ile, and Arg(517)Cys variants are in complete linkage disequilibrium and defined a prevalent haplotype. In a case-control study, the Arg(517)Cys polymorphism allele prevalence was 11.4% [95% confidence interval (CI), 9.7-13.0] among 744 men with juvenile-onset obesity and 9.3% (CI, 7.9-10.7) among 867 control subjects (P = 0.048). However, among middle-aged men the allelic prevalence was 9.7% (CI, 7.9-11.4) among 523 obese men and 12.2% (CI, 10.8-13.6) among 1051 lean men (P = 0.037). In conclusion, it is unlikely that MKKS variants play a major role in the pathogenesis of nonsyndromic obesity, although in rare cases the A242S allele may contribute to obesity.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Bardet-Biedl syndrome  TAS 1601414Bardet-Biedl syndrome 6 (BBS6)RGD 
Bardet-Biedl syndrome  ISOMKKS (Homo sapiens)1601414; 1601414Bardet-Biedl syndrome 6 (BBS6)RGD 
obesity  IAGP 1601414protein:substitution:A242S possible contribution RGD 
obesity no_associationIDA 1601414unlikely to play a major role in the pathogenesis of nonsyndromic obesityRGD 
obesity no_associationISOMKKS (Homo sapiens)1601414; 1601414 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Mkks  (MKKS centrosomal shuttling protein)

Genes (Mus musculus)
Mkks  (McKusick-Kaufman syndrome)

Genes (Homo sapiens)
MKKS  (MKKS centrosomal shuttling protein)


Additional Information