Quantitative pedigree analysis and mitochondrial DNA sequence variants in adults with cyclic vomiting syndrome

BMC Gastroenterology

Richard G Boles¹  Miranda AL van Tilburg⁶  Aniko Szabo⁵  Baber Malik⁴  Muhammad Ali³  Jyotirmoy Sengupta⁴  Nilay Kumar⁴  Essam A Zaki²  Thangam Venkatesan⁴ 

[1] Department of Pediatrics, Keck School of Medicine at the University of Southern California, Los Angeles, CA, USA;Division of Medical Genetics, Children’s Hospital Los Angeles, Los Angeles, CA, USA;Division of Gastroenterology and Hepatology, UT Southwestern Medical Center, Dallas, TX, USA;Division of Gastroenterology and Hepatology, Medical College of Wisconsin, Milwaukee, WI, USA;Division of Biostatistics, Institute for Health and Society, Medical College of Wisconsin, Milwaukee, WI, USA;Center for Functional GI and Motility Disorders, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA

关键词: Functional disorders;    Genetic;    Pedigree;    Mitochondria;    Vomiting;   

Others  :  1121775
DOI  :  10.1186/1471-230X-14-181

 received in 2014-02-06, accepted in 2014-09-29,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 Venkatesan et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

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