Skip to main content

Table 1 The reporting quality of the reviewed 21 studies

From: A systematic review of association studies of common variants associated with idiopathic congenital talipes equinovarus (ICTEV) in humans in the past 30 years

Year

Study object

Study type

Inclusion criteria

Exclusion criteria

Race/Ethnicity

Sample size

Method

Gene examined

Association study

Results

Corresponding author

2002

To evaluate the relationship between R279 W mutation in DTDST and occurrence of ICTEV

Family based

ICTEV patients and their families

Associate with other anomalies and syndromes

Hispanic and Nonhispanic White

125 ICTEV probands and their parents

PCR, Genotyping

DTDST

N

Negative

Jacqueline T. Hecht

2003

To investigate possible association between ICTEV and HoxD gene

Family based

ICTEV patients and their families

Homozygous pedigree; Incomplete information

Chinese

42 ICTEV probands and their parents

PCR, Genotyping, TDT

HoxD

Y

Positive

Shi-Jun Ji

2004

To investigate correlation between ICTEV and PAX5, PAX6 and TBX3

Family based

ICTEV patients and their families

NOS

Chinese

123 ICTEV probands in 41 nuclear family trios

PCR, Genotyping, TDT

PAX5

PAX6

TBX3

Y

TBX3

Positive

Hong-wei Ma

2005

To study 2q31-33 SNP in ICTEV patients

Family based

ICTEV patients and their families

TEV from other causes

Hispanic and Nonhispanic White

57 multiplex families and 83 simplex families

PCR, Genotyping

CASP8

CASP10

CFLAR

Y

CASP10

Positive

Jacqueline T. Hecht

2005

To study SNPs in HoxD10, HoxD12, HoxD13 and haplotypes distribution in ICTEV pedigree

Family based

ICTEV patients and their families

NOS

Chinese

125 ICTEV probands

PCR, Genotyping, TDT

HoxD10

HoxD12

HoxD13

Y

HoxD12

HoxD13

Positive

Chun-lian Jin

2006

To explore the association and mutation of GLI3 gene in ICTEV

Family based

ICTEV patients and their families

NOS

Chinese

271 ICTEV probands and their parents

100 normal controls

PCR, Genotyping, TDT

GLI3

Y

GLI3

Positive

Chun-lian Jin

2006

To study MTHFR C677Tpolymorphism, and maternal periconceptional folic acid supplement use, influenced risk of isolated clubfoot

Family based

ICTEV patients and their families

syndromic TEV

Not specified

375 case-parent triads

PCR, Genotyping

MTHFR

N

MTHFR

Positive

Linda Sharp

2007

To analyze SNPs within COL9A1 gene in ICTEV

Family based

ICTEV patients and their families

NOS

Chinese

252 ICTEV probands in 41 nuclear family trios

PCR, Genotyping, ETDT

COL9A1

Y

COL9A1

Positive

Chun-lian Jin

2007

To test the possible association between NAT2, NAT3 and ICTEV

Family based

ICTEV patients and their families

NOS

Hispanic and Caucasian

56 extended multiplex families, 57 trios, and 157 Hispanic and 80 white

non-Hispanic simplex trios

PCR, Genotyping, PDT, FBAT

NAT2

NAT3

Y

NAT2

Positive

Jacqueline T. Hecht

2007

To study the association between Apoptotic genes and ICTEV

Family based

ICTEV patients and their families

NOS

Hispanic and Caucasian

170 Caucasian families, 179 Hispanic families

PCR, Genotyping, FBAT, PDT

Casp3

Casp8

Casp9

Casp10

Bid

Bcl-2

Apaf1

Y

Tested genes positive

Jacqueline T. Hecht

2008

To study possible association between ICTEV and HoxD

Family based

ICTEV patients and their famliies

Incomplete chart records

Chinese

65 ICTEV patients

96 members from 32 families

PCR, Genotyping, TDT

HoxA

Y

HoxA

Positive

Chun-lian Jin

2008

To detect the expressions of COL1A1 mRNA in 20 patients with ICTEV

Case–control

ICTEV patients

NOS

Chinese

84 ICTEV probands and their parents

100 normal controls

PCR-DGGE, DNA sequencing

COL1A1

N

COL1A1

Positive

Chun-lian Jin

2009

To test the hypothesis that CAND2 and WNT7a mutation associated with ICTEV

Case–control

ICTEV patients

Other syndromes including TEV

Not specified

256 ICTEV patients and their parents

75 matched controls

PCR, DNA sequencing

CAND2 WNT7a

N

Negative

Jose A. Morcuende

2009

To detect the association between DTDST and ICTEV

Case–control

ICTEV patients

Associate with other abnomalies and syndromes

Chinese

40 ICTEV patients

10 matched controls

RT-PCR, PCR-SSCP

DTDST

N

Positive

WU Xin-le

2009

To evaluate the expression level of CD-RAP

Case–control

ICTEV patients

Neuromuscular or syndomic TEV

Chinese

25 ICTEV patients

5 controls

RT-PCR

CD-RAP

N

Positive

Chun-lian Jin

2009

To study HoxA, HoxD and IGFBP3 in patients with ICTEV

Family based

ICTEV patients

Chromosomal abnormality or syndrome

Hispanic and Non-Hispanic White

179 extended families

331 simplex families

88 trios

144 families for validation

PCR, Genotyping, In Silico

HoxA

HoxD

IGFBP3

Y

Tested genes positve

Interactions with CASP3

Jacqueline T. Hecht

2010

To study MYH genes in ICTEV patients

Case–control

ICTEV patients

Neuromuscular or other syndrome with TEV

Not Specified

200 patients

200 controls

PCR, DNA sequencing

MYH 1

MYH 2

MYH 3

MYH 8

N

MYH genes not directly cause ICTEV

Jose A. Morcuende

2012

To assess whether variation in or around TBX4 is a common cause of nonsyndromic clubfoot.

Family based

ICTEV patients and their families

syndromic causes of clubfoot

Hispanic and Non-Hispanic White

605 families

aCGH, PCR, Genotyping, DNA sequencing

TBX4

Y

TBX4 variation is not a frequent cause

Jacqueline T. Hecht

2012

To interrogate muscle contractile complex genes in ICTEV

Family based and case–control

ICTEV patients and their families

NOS

Hispanic and Non-Hispanic White

224 multiplex families

357 simplex families

PCR, Genotyping, DNA sequencing

Muscle contractile complex genes

Y

TNNC2 was identified in a validation group

Jacqueline T. Hecht

2014

To identify genetic risk factors associated with clubfoot

Case–control

ICTEV patients

Additional birth defects, known genetic, syndromes, developmental delay, mental retardation

Hispanic and non-Hispanic White

396 ICTEV patients 1000 controls

Microarray genotyping, GWAS association study

Genome

Y

SNPs replication 12q24.31 FOXN3, SORCS1 MMP7/TMEM123

Christina A Gurnett