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

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 case-control 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.
PMID
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Authors

Mayor MeshTerms

Polymorphism, Genetic

Sequence Deletion

Keywords
Journal Title genetics and molecular research : gmr
Publication Year Start




PMID- 28198501
OWN - NLM
STAT- MEDLINE
DA  - 20170215
DCOM- 20170316
LR  - 20170316
IS  - 1676-5680 (Electronic)
IS  - 1676-5680 (Linking)
VI  - 16
IP  - 1
DP  - 2017 Feb 08
TI  - Effect of GJB2 235delC and 30-35delG genetic polymorphisms on risk of congenital 
      deafness in a Chinese population.
LID - 10.4238/gmr16019165 [doi]
AB  - 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
      case-control 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.
FAU - Xiong, Y
AU  - Xiong Y
AD  - Department of Obstetrics and Gynecology, Nanfang Hospital of Southern Medical
      University, Guangzhou, China.
AD  - Prenatal Diagnosis Center, Boai Hospital of Zhongshan of Southern Medical
      University, Zhongshan, China.
FAU - Zhong, M
AU  - Zhong M
AD  - Department of Obstetrics and Gynecology, Nanfang Hospital of Southern Medical
      University, Guangzhou, China [email protected]
FAU - Chen, J
AU  - Chen J
AD  - Department of Obstetrics and Gynecology, Nanfang Hospital of Southern Medical
      University, Guangzhou, China.
FAU - Yan, Y L
AU  - Yan YL
AD  - Department of Obstetrics and Gynecology, Nanfang Hospital of Southern Medical
      University, Guangzhou, China.
FAU - Lin, X F
AU  - Lin XF
AD  - Department of Obstetrics and Gynecology, Nanfang Hospital of Southern Medical
      University, Guangzhou, China.
AD  - Prenatal Diagnosis Center, Boai Hospital of Zhongshan of Southern Medical
      University, Zhongshan, China.
FAU - Li, X
AU  - Li X
AD  - Otolaryngology Department, Nanfang Hospital of Southern Medical University,
      Guangzhou, China.
LA  - eng
PT  - Journal Article
DEP - 20170208
PL  - Brazil
TA  - Genet Mol Res
JT  - Genetics and molecular research : GMR
JID - 101169387
RN  - 0 (Connexins)
RN  - 0 (DFNA3 protein, human)
SB  - IM
MH  - Alleles
MH  - Asian Continental Ancestry Group/*genetics
MH  - Case-Control Studies
MH  - China/epidemiology
MH  - Connexins/*genetics
MH  - Deafness/*congenital/epidemiology/*genetics
MH  - Female
MH  - Genotype
MH  - Humans
MH  - Odds Ratio
MH  - *Polymorphism, Genetic
MH  - Pregnancy
MH  - Risk
MH  - *Sequence Deletion
EDAT- 2017/02/16 06:00
MHDA- 2017/03/17 06:00
CRDT- 2017/02/16 06:00
AID - gmr-16-01-gmr.16019165 [pii]
AID - 10.4238/gmr16019165 [doi]
PST - epublish
SO  - Genet Mol Res. 2017 Feb 8;16(1). doi: 10.4238/gmr16019165.

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