The genetics of Ménière’s disease

Figures & data

Table 1 Reports on genetics studies on Ménière’s disease

Author/year	Approach	Study design	Gene	Objective	Subjects	Ancestry	Association
Koyama et al, 1993^Citation49	Genetic	Case-control	HLA-Cw04	Susceptibility	20/20	Asian	No
			DRB1*1602				Yes
Melchiorri et al, 2002^Citation50	Genetic	Case control	HLA-Cw07	Susceptibility	41/34/101	Caucasian	Yes
Lopez-Escamez et al, 2002^Citation51	Genetic	Case-control	HLA-	Susceptibility	54/534	Caucasian	No
Lopez-Escamez et al, 2007^Citation52	Genetic	Case-control	HLA-DRB1*1101	Susceptibility	80/250	Caucasian	Yes
Khorsandi et al, 2011^Citation54	Genetic	Case-control	HLA-Cw04	Susceptibility	22/91	Caucasian	Yes
Klar et al, 2006^Citation61	Genomic	Familial	12p12 PIK3C2G	Susceptibility	13/8	Caucasian	Yes
Hietikko et al, 2011^Citation47	Genomic	Familial	12p12.3	Susceptibility	16 families	Caucasian	No
Arweiler-Harbeck et al, 2011^Citation4	Genomic	Familial	Chromosome 5	Susceptibility	52/29	Caucasian	Yes
Yazdani et al, 2013^Citation64	Genetic	Case-control	MIF-173	Susceptibility	72/100	Caucasian	Yes
Gazquez et al, 2013^Citation65	Genetic	Case-control	MIF, INFG,TFNA	Susceptibility	580/552	Spanish/American	No
Mhatre et al, 2002^Citation66	Genetic	Case-control	AQP2	Mutation’s analysis	12	American	No
Candreia et al, 2010^Citation67	Genetic	Case-control	AQP3	Mutation’s analysis	34/100	Caucasian	No
Maekawa et al, 2010^Citation68	Genetic	Case-control	AQP2	Gene expression study	15/9	Asian	No
Lynch et al, 2002^Citation69	Genetic	Case-control	ATQ1	Mutation’s analysis	14	Australian	No
Doi et al, 2005^Citation72	Genetic	Case-control	KCNE1 – 3	Susceptibility	63/237	Asian	Yes
Campbell et al, 2010^Citation73	Genetic	Case-control	KCNE1 – 3	Susceptibility	180/180	Caucasian	No
Hietikko et al, 2012^Citation74	Genetic	Case-control	KCNE1	Mutation’s analysis	59/98	Caucasian	Yes
Teggi et al, 2008^Citation75	Genetic	Case-control	ADD1	Susceptibility	28/48	Caucasian	Yes
Kawaguchi et al, 2008^Citation76	Genetic	Case-control	HSPA1A	Susceptibility	49/100	Asian	Yes
Vrabec et al, 2008^Citation77	Genetic	Case-control	HCFC1	Susceptibility	21/33	Caucasian	No
Lopez-Escamez et al, 2010^Citation78	Genetic	Case-control	PTPN22	Susceptibility	52/348	Caucasian	Yes
Furuta et al, 2011^Citation79	Genetic	Case-control	IL1A	Susceptibility	68/72/2202	Asian	Yes
Lopez-Escamez et al, 2011^Citation31	Genetic	Case-control	CD16A/CD32	Susceptibility	156/626	Caucasian	No
Gazquez et al, 2011^Citation35	Genetic	Case-control	NOS1 – NOS2A	Susceptibility	273/550	Caucasian/American	No
Lopez-Escamez et al, 2009^Citation80	Genetic	Case-control	PARP-1	Susceptibility	80/371	Spanish	No

KoyamaSMitsuishiYBibeeKWatanabeITerasakiPIHLA associations with Ménière’s diseaseActa Otolaryngol199311355755788266781

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MelchiorriLMartiniARizzoRHuman leukocyte antigen-A, -B, -C and -DR alleles and soluble human leukocyte antigen class I serum level in Ménière’s diseaseActa Otolaryngol Suppl2002548262912211352

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Lopez-EscamezJALopez-NevotACortesRExpression of A, B, C and DR antigens in definite Meniere’s disease in a Spanish populationEur Arch Otorhinolaryngol2002259734735012189399

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Lopez-EscamezJAVilchezJRSoto-VarelaAHLA-DRB1*1101 allele may be associated with bilateral Ménière’s disease in southern European populationOtol Neurotol200728789189517592398

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KhorsandiMTAmoliMMBorgheiHAssociations between HLA-C alleles and definite Meniere’s diseaseIran J Allergy Asthma Immunol201110211912221625020

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KlarJFrykholmCFribergUDahlNA Meniere’s disease gene linked to chromosome 12p12.3Am J Med Genet B Neuropsychiatr Genet2006141B546346716741942

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HietikkoEKotimäkiJKentalaEFinnish familial Ménière disease is not linked to chromosome 12p12.3, and anticipation and cosegregation with migraine are not common findingsGenet Med201113541542021346584

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Arweiler-HarbeckDHorsthemkeBJahnkeKHenniesHCGenetic aspects of familial Meniere’s diseaseOtol Neurotol201132469570021436747

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YazdaniNKhorsandi AshtianiMTZarandyMMAssociation between MIF gene variation and Meniere’s diseaseInt J Immunogenet201340648849123566229

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GázquezIMorenoARequenaTFunctional variants of MIF, INFG and TFNA genes are not associated with disease susceptibility or hearing loss progression in patients with Ménière’s diseaseEur Arch Otorhinolaryngol201327041521152923179933

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MhatreANJeroJChiappiniIAquaporin-2 expression in the mammalian cochlea and investigation of its role in Meniere’s diseaseHear Res20021701–2596912208541

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CandreiaCSchmuzigerNGurtlerNMolecular analysis of aquaporin genes 1 to 4 in patients with Meniere’s diseaseCell Physiol Biochem2010264–578779221063116

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MaekawaCKitaharaTKizawaKExpression and translocation of aquaporin-2 in the endolymphatic sac in patients with Meniere’s diseaseJ Neuroendocrinol201022111157116420722976

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LynchMCameronTLKnightMStructural and mutational analysis of antiquitin as a candidate gene for Meniere diseaseAm J Med Genet2002110439739912116217

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DoiKSatoTKuramasuTMénière’s disease is associated with single nucleotide polymorphisms in the human potassium channel genes, KCNE1 and KCNE3ORL J Otorhinolaryngol Relat Spec200567528929316374062

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CampbellCADella SantinaCCMeyerNCPolymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian populationAm J Med Genet A2010152A1677420034061

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HietikkoEKotimäkiJOkuloffASorriMMännikköMA replication study on proposed candidate genes in Ménière’s disease, and a review of the current status of genetic studiesInt J Audiol2012511184184522934933

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TeggiRLanzaniCZagatoLGly460Trp alpha-adducin mutation as a possible mechanism leading to endolymphatic hydrops in Ménière’s syndromeOtol Neurotol200829682482818667944

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KawaguchiSHagiwaraASuzukiMPolymorphic analysis of the heat-shock protein 70 gene (HSPA1A) in Ménière’s diseaseActa Otolaryngol2008128111173117719241595

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VrabecJTLiuLLiBLealSMSequence variants in host cell factor C1 are associated with Ménière’s diseaseOtol Neurotol200829456156618520591

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Lopez-EscamezJASaenz-LopezPAcostaLAssociation of a functional polymorphism of PTPN22 encoding a lymphoid protein phosphatase in bilateral Ménière’s diseaseLaryngoscope2010120110310719780033

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FurutaTTeranishiMUchidaYAssociation of interleukin-1 gene polymorphisms with sudden sensorineural hearing loss and Ménière’s diseaseInt J Immunogenet201138324925421385326

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Lopez-EscamezJASaenz-LopezPGazquezIPolymorphisms of CD16A and CD32 Fcgamma receptors and circulating immune complexes in Ménière’s disease: a case-control studyBMC Med Genet201112221208440

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GazquezISoto-VarelaAAranIHigh prevalence of systemic autoimmune diseases in patients with Ménière’s diseasePLoS One2011610e2675922053211

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Lopez-EscamezJAMorenoABernalMPoly(ADP-ribose) polymerase-1 (PARP-1) longer alleles spanning the promoter region may confer protection to bilateral Meniere’s diseaseActa Otolaryngol2009129111222122519863315

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