Is There a GERD Gene?

Romero, Yvonne; Locke, G. Richard

doi:10.1111/j.1572-0241.1999.01127.x

Cited by 24 publications

(12 citation statements)

References 20 publications

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“…A family history of heartburn or acid regurgitation was associated with NCCP‐overall and the subgroup with NCCP–GERD. As reflux symptoms themselves seem to be associated with NCCP, a family history of these problems would be congruent with that hypothesis and suggests a possibility of a genetic or shared environmental risk amongst kindreds with GERD 24, 25 …”

Section: Discussionmentioning

confidence: 80%

Risk factors for non‐cardiac chest pain in the community

Wise

Locke

Zinsmeister

et al. 2005

Aliment Pharmacol Ther

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SUMMARYBackground: Non-cardiac chest pain is a common and expensive condition. Risk factors for non-cardiac chest pain are poorly understood and lack description in the USA community. Aim: To explore risk factors and health-seeking behaviour in non-cardiac chest pain in a USA community. Methods: Olmsted County, MN subjects who reported at least monthly or severe chest pain in response to a validated questionnaire were compared with controls. All the Mayo Clinic medical records were reviewed; those with cardiac disease or relevant organic conditions were excluded. Results: Of 2118 eligible subjects, 1524 (72%) returned a questionnaire, 389 subjects (26%) reported any chest pain and 186 (12.2%) at least monthly or severe chest pain. Of these, 62 were excluded for a cardiac diagnosis or another organic cause. Thus, 124 subjects (9.1%, 95% CI: 7.6-10.8%) reported at least monthly or severe non-cardiac chest pain, of which 65 (52.4%) had frequent reflux symptoms. Independent risk factors for non-cardiac chest pain were obesity (OR 3.0, 95% CI:

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Section: Discussionmentioning

confidence: 80%

Risk factors for non‐cardiac chest pain in the community

Wise

Locke

Zinsmeister

et al. 2005

Aliment Pharmacol Ther

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“…[19][20][21][22] All these lines of evidence suggest a genetic aetiology and or a common exposure to environmental factors. At present, no GERD genotype has been identified, 23 and the genetic basis of the disease remains obscure. In this report, we examine if the human leucocyte antigen (HLA) gene complex, important for immune responsiveness, may be a susceptibility locus for this disease.…”

Section: Introductionmentioning

confidence: 99%

Human leucocyte antigen determinants of susceptibility to Barrett's oesophagus in Asians – a preliminary study

Rajendra

Ackroyd

Murad

et al. 2005

Aliment Pharmacol Ther

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SUMMARYBackground: Characteristic immune profiles have been demonstrated in gastro-oesophageal reflux disease. However, the genetic basis of gastro-oesophageal reflux disease remains unclear. Aim: To investigate whether certain human leucocyte antigen genes are associated with Barrett's oesophagus. Methods: Asian patients of Malay, Chinese and Indian descent with Barrett's oesophagus (n ¼ 59) and those without reflux symptoms and a normal oesophagus (n ¼ 60) were recruited prospectively using endoscopic and histopathological criteria. Human leucocyte antigen class I and II typing was performed using a polymerase chain reaction sequence-specific primers method. Results: The HLA-B7 allele was present in 17% (10 of 59) of patients with Barrett's oesophagus when com-

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“…Epidemiological and family studies have suggested that both pediatric and adult onset GER have major genetic components with autosomal dominant mode of inheritance and nearly complete penetrance if diagnosed in childhood [Romero and Locke, 1999; Hu et al, 2000a] A gene for familial GERD has been mapped to 13q14 using linkage analysis [Hu et al, 2000a]. The GERD1 locus has been mapped to a 9‐cM interval between the markers CAGR1 and D13S263, located at 13q13.3 and 13q14.11, respectively [Hu et al, 2000b].…”

Section: Discussionmentioning

confidence: 99%

Molecular cytogenetic characterization of an interstitial de novo 13q deletion in a 3‐month‐old with severe pediatric gastroesophageal reflux

Champaigne

Laird

Northup

et al. 2009

American J of Med Genetics Pt A

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Gastroesophageal reflux (GER) occurs when gastric contents travel back into the esophagus through the esophageal sphincter. GER is very common in infants with most growing out of it, but some continue to have chronic symptoms throughout childhood and adulthood. A gene for severe pediatric gastroesophageal reflux disease (GERD) was identified by linkage analysis and was mapped to chromosome 13. We report here a de novo interstitial deletion of chromosome 13 in a 3-month-old biracial male who presented to the emergency room with severe GER and failure to thrive. Chromosome analysis showed an interstitial deletion of chromosome 13, with the karyotype reported as 46, XY, del(13)(q12.3q14.1). BAC-FISH analysis demonstrated that the deletion encompasses 12.3 Mb and does involve the GERD1 locus. The GERD1 locus has been mapped to a 9-cM interval between the markers CAGR1 and D13S263, both of which are deleted in our patient. We propose that the GER phenotype in our patient is due to a haploinsufficiency of GERD1.

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Is There a GERD Gene?

Cited by 24 publications

References 20 publications

Risk factors for non‐cardiac chest pain in the community

Risk factors for non‐cardiac chest pain in the community

Human leucocyte antigen determinants of susceptibility to Barrett's oesophagus in Asians – a preliminary study

Molecular cytogenetic characterization of an interstitial de novo 13q deletion in a 3‐month‐old with severe pediatric gastroesophageal reflux

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