Analysis of common deafness gene mutations in deaf people from unique ethnic groups in Gansu Province, China

Xu, Baicheng; Bian, Panpan; Liu, Xiaowen; Zhu, Yiping; Yang, Xiaolong; Ma, Jianyang; Chen, Xingjian; Wang, Yanli; Guo, Yufen

doi:10.3109/00016489.2014.927588

Cited by 7 publications

(8 citation statements)

References 14 publications

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“…Approximately 50% of childhood hearing loss is estimated to be associated with genetic contributions, and the prevalence of the m.1555 A>G mutation is 1% 4 . Furthermore, the prevalence of the m.1555 A>G mutation has been reported to be 0.42-17% in individuals with hearing loss (Table 2) 6,[15][16][17][18][19][20][21][22][23][24][25][26] . The prevalence of the m.1555 A>G mutation has been reported to be 0.08-0.7% among the general population (Table 2) [27][28][29][30][31][32][33][34][35][36] .…”

Section: Discussionmentioning

confidence: 99%

Prevalence of the mitochondrial 1555 A>G and 1494 C>T mutations in a community-dwelling population in Japan

et al. 2020

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Single nucleotide polymorphisms in mitochondrial DNA, such as mitochondrial 1555 A>G (m.1555 A>G) and mitochondrial 1494 C>T (m.1494 C>T), are known to be causative mutations of nonsyndromic hearing loss following exposure to aminoglycoside antibiotics. The prevalence of the m.1555 A>G and m.1494 C>T mutations has not been reported for the general population in Japan. The purpose of this study was to investigate the prevalence of m.1555 A>G and m.1494 C>T mutations in a community-dwelling population in Japan in order to prevent aminoglycoside-induced hearing loss. We recruited participants older than 20 years of age to the Iwaki Health Promotion Project in 2014, 2015, and 2016, resulting in the recruitment of 1,683 participants. For each participant, we performed a hearing test and a genetic test for the m.1555 A>G and m.1494 C>T mutations using the TaqMan genotyping method. The m.1555 A>G mutation was detected in only 1 of the 1,683 participants (0.06%). This carrier of the m.1555 A>G mutation was a 69-year-old male with bilateral, symmetric, and high-frequency hearing loss. We provided genetic counseling and distributed a drug card advising him to avoid the administration of aminoglycoside antibiotics. In contrast, the m.1494 C>T mutation was not detected in this study population.

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Section: Discussionmentioning

confidence: 99%

Prevalence of the mitochondrial 1555 A>G and 1494 C>T mutations in a community-dwelling population in Japan

et al. 2020

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“…The unique nomadic Chinese Yugur population is of great value for genetic studies. This population has been a target in both etiological and molecular anthropological studies ( 27 , 28 ). Accordingly, in this study, we evaluated five SNPs in the APOB gene in middle-aged and elderly members of the Chinese Yugur population, and analyzed the associations of these SNPs with HL.…”

Section: Discussionmentioning

confidence: 99%

Association between polymorphisms in the APOB gene and hyperlipidemia in the Chinese Yugur population

Han

et al. 2017

Braz J Med Biol Res

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We investigated the influence of apolipoprotein B gene (APOB) variants on the risk of hyperlipidemia (HL) in 631 middle-aged and elderly members of the Chinese Yugur population (HL, n=336; normolipidemia, n=295). APOB polymorphisms were identified using mass spectrometry, and five single nucleotide polymorphisms (rs1042034, rs2163204, rs512535, rs676210, and rs679899) and serum lipids were further analyzed. rs1042034 and rs676210 were significantly associated with HL (P<0.05). Compared with the GG or AA genotype, individuals with AG and AG+AA in rs1042034 and with AG and AG+GG in rs676210 had a 1.67-fold (95%CI=1.20–2.33),1.63-fold (95%CI=1.19–2.24), 1.72-fold (95%CI=1.24–2.40), and 1.67-fold (95%CI=1.21–2.291) increased risk of high HL, respectively. rs2163204 was in strong linkage disequilibrium with rs1042034, rs676210, and rs679899, and strong disequilibrium was observed between rs1042034 and rs676210 (D′>0.9). Compared with the GTGAA haplotype, haplotypes ATGGA and ATAGG were more strongly associated with HL [odds ratio (OR)=1.46, 95%CI=0.02–2.11; OR=1.63, 95%CI=1.03–2.60, respectively]. The risk factors age (P=0.008), body mass index (P<0.0001), GA+GG genotype in rs676210 (P=0.009), and alcohol consumption (P=0.056) contributed strongly to HL development. The A allele of rs1042034 and the G allele of rs676210 may thus predispose middle-aged and elderly members of the Chinese Yugur population to HL in combination with other genetic or nutritional factors, and could be used as new genetic markers for HL screening.

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“…This mutation was first reported as a heterozygote variant related to ARNSHL [28]. Another study found this mutation in homozygote form [29], and then reported it in Turkey [30], and Iran [12]. These findings suggested the involvement of other genetic or environmental causes playing an important role in manifesting any disorders in this population.…”

Section: Discussionmentioning

confidence: 86%

Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of Iran

et al. 2019

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Background and ObjectivesAutosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2). To this end, this cohort investigation aimed to find the contribution of GJB2 gene mutations with the genotype-phenotype correlations in 45 ARNSHL cases in the Kurdish population.Subjects and MethodsGenomic DNA was extracted from a total of 45 ARNSHL families. The linkage analysis with 3 short tandem repeat markers linked to GJB2 was performed on 45 ARNSHL families. Only 9 of these families were linked to the DFNB1 locus. All the 45 families who took part were sequenced for confirmation linkage analysis (to perform a large project).ResultsA total of three different mutations were determined. Two of which [c.35delG and c.-23+1G>A (IVS1+1G>A)] were previously reported but (c.299-300delAT) mutation was novel in the Kurdish population. The homozygous pathogenic mutations of GJB2 gene was observed in nine out of the 45 families (20%), also heterozygous genotype (c.35delG/N)+(c.-23+1G>A/c.-23+1G>A) were observed in 4/45 families (8.8%). The degree of hearing loss (HL) in patients with other mutations was less severe than patients with c.35delG homozygous mutation (p<0.001).ConclusionsOur data suggest that GJB2 mutations constitute 20% of the etiology of ARNSHL in Iran; moreover, the c.35delG mutation is the most common HL cause in the Kurdish population. Therefore, these mutations should be included in the molecular testing of HL in this population.

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Analysis of common deafness gene mutations in deaf people from unique ethnic groups in Gansu Province, China

Cited by 7 publications

References 14 publications

Prevalence of the mitochondrial 1555 A>G and 1494 C>T mutations in a community-dwelling population in Japan

Prevalence of the mitochondrial 1555 A>G and 1494 C>T mutations in a community-dwelling population in Japan

Association between polymorphisms in the APOB gene and hyperlipidemia in the Chinese Yugur population

Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of Iran

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