Carrier frequency of GJB2 gene mutations c.35delG, c.235delC and c.167delT among the populations of Eurasia

Dzhemileva, Lilya U.; Barashkov, Nikolay A.; Posukh, Olga L.; Хусаинова, Р. И.; Ахметова, В. Р.; Kutuev, Ildus; Gilyazova, I. R.; Tadinova, V. N.; Fedorova, Sardana A.; Khidiyatova, I. M.; Лобов, С. Л.; Хуснутдинова, Э. К.

doi:10.1038/jhg.2010.101

Cited by 31 publications

(31 citation statements)

References 42 publications

(43 reference statements)

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“…The mutation spectrum of GJB2 in the Asian population is significantly different from that found in ethnic groups of Caucasian and Ashkenazi Jewish origin (Dzhemileva et al, 2010;Riahi et al, 2013). In the Asian population, the mutation spectrum of GJB2 is also diverse because of the different ethnic backgrounds and the particular traditions regarding marriage among the deafness community (Santos et al, 2005).…”

Section: Discussionmentioning

confidence: 84%

Update of the Spectrum ofGJB2Mutations in 107 Patients with Nonsyndromic Hearing Loss in the Fujian Population of China

Chen

Jiang

Liu

et al. 2014

Annals of Human Genetics

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SummaryMutations in the GJB2 gene, encoding connexin26, which is expressed in the inner ear, have been shown to be responsible for the majority of nonsyndromic hearing loss (NSHL) cases. To update and evaluate the spectrum and prevalence of GJB2 mutations in the Fujian population, we screened exon 2 (coding), exon 1, and flanking introns of GJB2 in 107 NSHL probands and 61 individuals with normal hearing. Twelve different variants were identified, including three pathogenic mutations (c.235delC, c.299_300delAT, and c.508insAACG), one hypomorphic allele (p

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Section: Discussionmentioning

confidence: 84%

Update of the Spectrum ofGJB2Mutations in 107 Patients with Nonsyndromic Hearing Loss in the Fujian Population of China

Chen

Jiang

Liu

et al. 2014

Annals of Human Genetics

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“…Some studies have examined the association between the GJB2 235delC polymorphism and development of congenital deafness, but their results have been inconsistent Chen et al, 2009;Padma et al, 2009;Dzhemileva et al, 2010;Yang et al, 2013). In a study of a Chinese population, Dai et al (2007) reported that this genetic variant is significantly associated with deafness.…”

Section: Discussionmentioning

confidence: 99%

“…Padma et al (2009) investigated an Indian population, showing that the GJB2 235delC mutation is more prevalent among patients with hearing impairments than healthy controls. In a Eurasian population, Dzhemileva et al (2010) found that the 235delC and 30-35delG sequence variations are more frequently observed in patients with hereditary hearing impairments. In addition, Yang et al (2013) reported that the 235delC polymorphism is the most prevalent mutation in Tibet patients with hearing loss.…”

Section: Discussionmentioning

confidence: 99%

Effect of GJB2 235delC and 30-35delG genetic polymorphisms on risk of congenital deafness in a Chinese population

et al. 2017

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ABSTRACT. Congenital deafness is a serious and irreversible condition in humans. The GJB2 gene is implicated in the pathogenesis of autosomal recessive nonsyndromic hearing loss. Its 235delC and 30-35delG polymorphisms are reported to be associated with risk of hereditary deafness. However, the effect of the interaction between GJB2 235delC and 30-35delG and environmental factors on congenital deafness has not been described. Therefore, we performed a casecontrol study to investigate the influence of these polymorphisms on congenital deafness risk, and their interaction with maternal and other environmental factors in the development of this disease. Between March 2014 and May 2015, 118 patients with congenital deafness and 242 healthy controls were enrolled into our study. Compared with the GG genotype, the adjusted odds ratios (ORs) [and 95% confidence intervals (CIs)] for the 235delC GC and CC genotypes were 4.66 (1.77-13.07) and 8.28 (2.06-47.52), respectively. Individuals harboring the GC+CC genotypes were at a greatly increased risk of congenital deafness compared to those with the GG genotype (OR = 5.65, 95%CI = 2.54-13.18). However, no significant relationship was established between the 30-35delG variant and this disease. The 235delC polymorphism exhibited an interaction with use of aminoglycoside antibiotics during pregnancy in conferring susceptibility to congenital deafness (chi-square = 8.76, P = 0.003). In conclusion, our study suggests that the GJB2 235delC polymorphism, but not the 30-35delG variant, contributes to congenital deafness susceptibility in the Chinese population examined, and demonstrates an interaction with consumption of aminoglycoside antibiotics during pregnancy in exerting this effect.

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“…It is worth mentioning that these two mutations, c.35delG and c.235delC, also arose in the Upper Paleolithic, and it has been suggested that (c.235delC) could have arisen in the Lake Baikal area [58] or in the Altai-Sayan region [16,64].…”

Section: Discussionmentioning

confidence: 99%

“…It has been suggested that this confers a greater resistance to trauma, bacterial infection, and insect bites [17,66,67]. The second fact is that c.235delC, the GJB2 mutation that most frequently causes autosomal recessive hearing impairment (MIM * 121011) in Asia has a frequency of 3.4-13.9% [12][13][14], far below the 35% of autosomal recessive hearing impairment caused by c35deG in southern Europe [6]; even when we are talking about two ancient mutations that could be considered contemporaneous [60][61][62]64] and its carrier frequencies are remarkably similar [17]. This makes us suspect that perhaps p.Val27Ile has some protecting effect against the emergence of GJB2 pathogenic mutations in cis configuration with this polymorphism; which is supported by the very low frequency of this kind of haplotype (p.Val27Ile; pathogenic mutation) [14,29,59].…”

Section: Discussionmentioning

confidence: 99%

Evidence for Central Asian Origin of the p.Val27Ile Variant in the GJB2 Gene

Sánchez

Alfaro-Rodríguez

Poblano

2014

International Journal of Medical Genetics

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The mutations in the GJB2 gene are the most common cause of nonsyndromic hearing impairment and they are associated with the population's ethnic background. The p.Val27Ile is frequent in both Asia and America. In this retrospective study, we report the findings from the GJB2 screening and the audiological exams conducted on 125 Mexican mestizo patients with non-syndromic hearing impairment; they were treated at the Instituto Nacional de Rehabilitacion in Mexico City. The most frequent audiometric findings were bilateral, symmetrical, and profound hearing impairment. The allele frequencies in the GJB2 screening were p.Val27Ile 15%, other mutations 5%, and wild type 80%. We found no correlation between GJB2 genotype and auditory phenotype. The high allele frequency of p.Val27Ile was a very interesting finding. Our research suggests that p.Val27Ile arose in an ancient common ancestor who lived in Altai Republic and then the polymorphism was brought to America by its first inhabitants, the Amerindians. These results enhance our understanding of the peopling of the America, which remains unresolved.

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Carrier frequency of GJB2 gene mutations c.35delG, c.235delC and c.167delT among the populations of Eurasia

Cited by 31 publications

References 42 publications

Update of the Spectrum ofGJB2Mutations in 107 Patients with Nonsyndromic Hearing Loss in the Fujian Population of China

Update of the Spectrum ofGJB2Mutations in 107 Patients with Nonsyndromic Hearing Loss in the Fujian Population of China

Effect of GJB2 235delC and 30-35delG genetic polymorphisms on risk of congenital deafness in a Chinese population

Evidence for Central Asian Origin of the p.Val27Ile Variant in the GJB2 Gene

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