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. 2018 Sep 14;21(4):826–836. doi: 10.1038/s41436-018-0262-7

Table 1.

Characteristics of the included studies

Author Country /ethnicity CAVD diagnosis Genotyping method Study type Case of RA (event/total) Included cases Control
CUAVD CBAVD CUAVD CBAVD
Yang et al. (2015)24 Chinese CSC; excluding CF Whole exon/flanking sequence Case control 1/6 1/11 5 10 50 NC
Chiang et al. (2013)25 Taiwanese CSC; excluding CF and RA; Whole exon/flanking sequence Cross-sectional 1/2 0/12 1 12 NA
Schwarzer and Schwarz (2012)13 German CSC; excluding CF and RA Common variants screening Cross-sectional 5/13 5/110 8 105 NA
Sharma et al. (2009)26 Indian CSC; excluding CF and CFAS and RA Whole exon/flanking sequence; 5T and TG test Case control 3/10 1/40 7 39 50 NC
Radpour et al. (2007)27 Iranian CSC; excluding CF and RA Whole exon/flanking sequence; 5T and TG test Case control NA 0/112 7 112 84 NC
Danziger et al. (2004)29 U: Hispanic B: nine Asian or Asian-Indian, three Caucasian, and one Hispanic CSC; excluding CF and RA Common variants screening Cross-sectional 0/1 2/13 1 11 2 OA
Grangeia et al. (2004)28 Portuguese CSC; excluding CF and RA Whole exon/flanking sequence; 5T test Case control 0/4 3/34 4 31 114 NC; 16 OAZ and 23 NOAZ
Kolettis and Sandlow (2002)31 American CSC; excluding CF and RA Common variants screening Cross-sectional 4/11 NA 6 NA NA
Robert et al. (2002)30 French CSC; excluding CF and RA Common variants screening; 5T test Cross-sectional 1/7 2/40 6 38 NA
Attardo et al. (2001)33 Italian CSC; excluding CF and RA Common variants screening; 5T test Cross-sectional 0/1 3/37 1 34 NA
Larriba et al. (2001)32 Spanish CSC; excluding CF Whole exon/flanking sequence 5T test Cross-sectional NA NA 4 16 30 Non-CAVD
Casals et al. (2000)14 Spanish CSC; excluding CF and RA Whole exon/flanking sequence; 5T test Case control 10/24 6/110 14 104 200 NC
Jézéquel et al. (2000)35 French CSC; excluding CF and CFAS; RAU Whole exon/flanking sequence; 5T test Cross-sectional NA NA 3 37 7 OA
Zeng et al. (2000)34 Chinese CSC Common variants screening Cross-sectional NA NA 15 NA NA
Castellani et al. (1999)36 Italian CSC; excluding CF and RA Common variants screening; 5T test Cross-sectional 0/3 2/39 3 37 NA
Boucher et al. (1999)37 French CSC; excluding CF and RA Common variants screening Cross-sectional 0/2 1/12 2 11 39 Non-CAVD; 37 oligozoospermia
Dörk et al. (1997)38 German with a few Austrian, Portuguese, Turkish, and Vietnamese CSC; excluding CF and RA Whole exon/flanking sequence; 5T test Cross-sectional 0/5 9/101 5 92 NA
Schlegel et al. (1996)16 American CSC; excluding CF and RA Common variants screening Cross-sectional 5/19 6/53 12 52 NA
Casals et al. (1995)40 Spanish CSC; excluding CF Common variants screening Cross-sectional NA NA 6 28 NA
Chillón et al. (1995)1 European (Belgian, French, Spanish) and American CSC; excluding CF and CFAS; RAU Whole exon/flanking sequence; 5T test Case control NA NA 12 102 46 NC 10 non-CAVD
Jarvi et al. (1995)39 Canadian CSC; excluding CF Common variants screening; 5T test Cross-sectional NA NA 2 25 17 OAZ; 18 SF
Mickle et al. (1995)7 American CSC; excluding CF and RA Common variants screening Cross-sectional 5/21 NA 16 NA NA
Culard et al. (1994)41 French including one Turkish CSC; excluding CF; RAU Whole exon/flanking sequence Cross-sectional NA NA 1 8 NA

CAVD congenital absence of the vas deferens, CBAVD congenital bilateral absence of the vas deferens, CF cystic fibrosis, CFAS CF-related atypical symptoms that comprise mainly minor pulmonary and gastrointestinal, CSC CUAVD diagnosis conformed to the standardized criteria, CUAVD congenital unilateral absence of the vas deferens, NA not available, NC normal controls, NOAZ nonobstructive azoospermia, non-CAVD noncongenital absence of the vas deferens infertility, OAZ obstructive azoospermia, RA renal abnormalities that include mainly uni-/bilateral renal agenesis, RAU renal abnormality information was unavailable, SF spermatogenic failure