Heredity in Common Diseases

Marshall, A. G.; Hutchinson, Elspeth O.; Honisett, Jillian

doi:10.1136/bmj.1.5270.1

Cited by 31 publications

(3 citation statements)

References 12 publications

(4 reference statements)

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“…Notwithstanding these reservations, susceptibility to a number of infections (reviewed 27 ) show markedly increased concordance in MZ compared to DZ twins. Examples include tuberculosis,24-26 sinusitis,28 Helicobacter pylori -specific antibody titres,29 and leprosy 30. More recent twin and triplet data indicate that susceptibility to both acute and chronic otitis media is largely genetically determined 31,32.…”

Section: Epidemiological Evidencementioning

confidence: 99%

Genetic susceptibility to infectious diseases: big is beautiful, but will bigger be even better?

Burgner

Jamieson

Blackwell

2006

The Lancet Infectious Diseases

199

164

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SummaryGenetic epidemiology, including twin studies, provides robust evidence that genetic variation in human populations contributes to susceptibility to infectious disease. One of the major limitations of studies that attempt to identify the genes and mechanisms that underlie this susceptibility has been lack of power caused by small sample size. With the development of novel technologies, burgeoning information on the human genome, the HapMap project, and human genetic diversity, we are at the beginning of a new era in the study of the genetics of complex diseases. This review looks afresh at the epidemiological evidence that supports a role for genetics in susceptibility to infectious disease, examines the somewhat limited achievements to date, and discusses current advances in methodology and technology that will potentially lead to translational data in the future.

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Section: Epidemiological Evidencementioning

confidence: 99%

Genetic susceptibility to infectious diseases: big is beautiful, but will bigger be even better?

Burgner

Jamieson

Blackwell

2006

The Lancet Infectious Diseases

199

164

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“…Although inguinal hernia repair is one of the most commonly performed procedures in general surgery, the pathogenic mechanisms of inguinal hernias are not completely understood. Inguinal hernia has been proposed to be hereditary [ 11 , 22 ], but the possible inheritance pattern is uncertain yet and there are no reported genetic studies for humans that could be considered as whole-genome level or genome-wide.…”

Section: Discussionmentioning

confidence: 99%

Whole-exome sequencing identifies a potential TTN mutation in a multiplex family with inguinal hernia

Mihailov

Nikopensius

Reigo

et al. 2016

Hernia

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PurposeInguinal hernia repair is one of the most common procedures in general surgery. Males are seven times more likely than females to develop a hernia and have a 27 % lifetime ‘risk’ of inguinal hernia repair. Several studies have demonstrated that a positive family history is an important risk factor for the development of primary inguinal hernia, which indicates that genetic factors may play important roles in the etiology of the disease. So far, the contribution of genetic factors and underlying mechanisms for inguinal hernia remain largely unknown. The aim of this study was to investigate a multiplex Estonian family with inguinal hernia across four generations.MethodsThe whole-exome sequencing was carried out in three affected family members and subsequent mutation screening using Sanger sequencing was performed in ten family members (six affected and four unaffected).ResultsWhole-exome sequencing in three affected family members revealed a heterozygous missense mutation c.88880A>C (p.Lys29627Thr; RefSeq NM_001256850.1) in the highly conserved myosin-binding A-band of the TTN gene. Sanger sequencing demonstrated that this mutation cosegregated with the disease in this family and was not present in ethnically matched control subjects.ConclusionWe report that missense variant in the A-band of TTN is the strongest candidate mutation for autosomal-dominant inguinal hernia with incomplete penetrance.Electronic supplementary materialThe online version of this article (doi:10.1007/s10029-016-1491-9) contains supplementary material, which is available to authorized users.

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“…18 Transplacental infection may similarly be common, with few of the infected infants becoming manifestly ill. There is good reason to believe that hepatitis virus is commonly present in the blood of healthy adults, such as blood donors, 14, 29 but that clinical hepatitis occurs in only the minority of persons so infected with this agent.…”

mentioning

confidence: 99%

Clinical Review : Prolonged Neonatal Obstructive Jaundice

Danks

1965

Clin Pediatr (Phila)

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Heredity in Common Diseases

Cited by 31 publications

References 12 publications

Genetic susceptibility to infectious diseases: big is beautiful, but will bigger be even better?

Genetic susceptibility to infectious diseases: big is beautiful, but will bigger be even better?

Whole-exome sequencing identifies a potential TTN mutation in a multiplex family with inguinal hernia

Clinical Review : Prolonged Neonatal Obstructive Jaundice

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