title: Quantitative pedigree analysis and mitochondrial DNA sequence variants in adults with cyclic vomiting syndrome.
abstract: BACKGROUND
  Children with cyclic vomiting syndrome (CVS) have a high degree of maternal inheritance of functional gastrointestinal and neurological disorders. CVS in children is also associated with an increased prevalence of mitochondrial DNA single-nucleotide polymorphisms (mtDNA SNPs) 16519 T and 3010A. Preliminary data suggests that age of onset of symptoms (pediatric vs. adult) may be a determinant of the presence of such mtDNA SNP's. We sought to examine the degree of maternal inheritance pattern of functional disorders and the prevalence of mtDNA SNP's16519T and 3010A in adults with CVS and correlate this with age of onset of disease.
  
  
  METHODS
  A Quantitative Pedigree Analysis (QPA) was performed in 195 of a total of 216 patients and all were genotyped using Restriction Fragment Length Polymorphism (RFLP) or sequencing.
  
  
  RESULTS
  Adults with CVS had a higher degree of probable maternal inheritance (PMI) of functional disorders than controls (12% vs. 1%, p < 0.001). However, the prevalence of mitochondrial SNP's 16519 T, 3010A and the AT genotype were similar in Haplogroup H CVS patients compared to historical controls. There was no correlation between age of onset of disease and prevalence of these mtDNA SNP's.
  
  
  CONCLUSIONS
  A subset of adults with CVS has a significantly higher degree of maternal inheritance pattern of functional disorders than controls. There was no association with mtDNA SNP's 16519 T and 3010A as seen in children and future studies sequencing the entire mitochondrial and nuclear genome to identify potential causes for this maternal inheritance pattern in adults are warranted.
authors.affiliation: Division of Gastroenterology and Hepatology, Medical College of Wisconsin, Milwaukee, WI, USA. tvenkate@mcw.edu.
authors.forename: Thangam
authors.initials: T
authors.lastname: Venkatesan
authors.forename: Essam A
authors.initials: EA
authors.lastname: Zaki
authors.forename: Nilay
authors.initials: N
authors.lastname: Kumar
authors.forename: Jyotirmoy
authors.initials: J
authors.lastname: Sengupta
authors.forename: Muhammad
authors.initials: M
authors.lastname: Ali
authors.forename: Baber
authors.initials: B
authors.lastname: Malik
authors.forename: Aniko
authors.initials: A
authors.lastname: Szabo
authors.forename: Miranda Al
authors.initials: MA
authors.lastname: van Tilburg
authors.forename: Richard G
authors.initials: RG
authors.lastname: Boles
mesh_terms: D000328:Adult; D017668:Age of Onset; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D040582:Inheritance Patterns; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D014839:Vomiting / Q000235:genetics*; D055815:Young Adult
chemical_list: D004272:DNA, Mitochondrial