Exploration of Immunology

Table 1. Methodological domains considered during narrative quality appraisal of the included studies.

Study (author, year)	Country	Population ancestry	Sample size (cases/controls)	HWE in controls	Confounder adjustment	Genotyping method
Li et al., 2013 [7]	China	Chinese	1,110/1,060	Yes	Yes	MassARRAY
Padala et al., 2022 [20]	India	South Indian	300/300	Yes	No	PCR-RFLP and AS-PCR
Alidoust et al., 2021 [21]	Iran	Iranian	476/524	Yes	Not reported/unknown	ARMS
Chou et al., 2020 [8]	China	People in Taiwan, China	1,365/0	Not applicable	Yes	Chip SNP Affymetrix TWB
Zhang et al., 2019 [22]	Multicenter	Multi-cohort (TCGA, GTEx; predominantly European ancestry)	Not applicable (secondary genomic datasets)	Not applicable	Yes	Public GWAS datasets + genotype imputation
Deligezer and Dalay, 2004 [23]	Türkiye	Turkish	151/133	Yes	No	PCR-RFLP
Eras et al., 2019 [24]	Türkiye	Turkish	204/210	Yes	Yes	TaqMan genotyping assay
Sirisena et al., 2018 [25]	Sri Lanka	Sri Lankan	349	Yes	Yes	MassARRAY
Lee et al., 2017 [26]	South Korea	Korean	2,027	Not reported/unknown	Yes	Affymetrix Genome-Wide Human SNP Array 6.0 chip
Pal and Dutta, 2023 [27]	India	North Indian	285/363	Not reported/unknown	Yes	Sanger sequencing
Lin et al., 2022 [9]	China	Chinese	434/450	Not reported/unknown	Yes	MassARRAY
Hausmann et al., 2021 [17]	Brazil	Brazilian	243/294	Yes	Yes	TaqMan genotyping assay
Tsai et al., 2020 [28]	China	People in Taiwan, China	1,232/1,232	Yes	Yes	PCR-RFLP
Fawzy and Toraih, 2020 [29]	Egypt	Egyptian	200/340	Yes	Yes	TaqMan genotyping assay
Park et al., 2024 [30]	South Korea	Korean	90/90	Not reported/unknown	Not reported/unknown	RT-qPCR
Shan et al., 2019 [31]	Tunisia	Tunisian	544/538	Yes	Yes	TaqMan genotyping assay
Vitiello et al., 2019 [15]	Brazil	Brazilian	388/405	Not reported/unknown	Yes	PCR-RFLP
Vitiello et al., 2018 [16]	Brazil	Brazilian	323/405	Not reported/unknown	Yes	PCR-RFLP
Vitiello et al., 2018 [14]	Brazil	Brazilian	338/403	Yes	Yes	PCR-RFLP
Sabet et al., 2017 [32]	Egypt	Egyptian	105/50	Yes	No	PCR-RFLP
Ren et al., 2016 [10]	China	Chinese	560/583	Yes	No	MassARRAY
Chen et al., 2015 [11]	China	Chinese	715/0	Yes	Yes	12-plex SNPstream platform
Okuyama Kishima et al., 2015 [3]	Brazil	Brazilian	74/0	Yes	No	PCR-RFLP
de Oliveira et al., 2013 [13]	Brazil	Brazilian	26/0	Not reported/unknown	No	PCR-RFLP
Resler et al., 2013 [18]	USA	American/Caucasian	845/807	Yes	Yes	Illumina GoldenGate multiplex platform
Ozgöz et al., 2013 [33]	Türkiye	Turkish	31/30	Not reported/unknown	No	PCR-RFLP
Joshi et al., 2011 [34]	India	Parsi and Maharashtrian (Indian)	230/407	Yes	No	PCR-SSP
Madeleine et al., 2011 [19]	USA	Caucasian American	882/906	Yes	Yes	Applied Biosystems SNPlex^® system
Slattery et al., 2014 [5]	Mexico and USA (San Francisco)	USA Hispanic/Native American or Mexican USA non-Hispanic white	3,592/4,182	Yes	Yes	Multiplexed bead array assay format based on GoldenGate chemistry (Illumina, San Diego, CA)
Yu et al., 2015 [12]	China	Chinese	376/366	Yes	Not reported/unknown	PCR-RFLP
Safonov et al., 2017 [1]	Multicenter	TCGA (predominantly European ancestry)	1,025/0	Not applicable	Yes (multivariate linear models)	Public GWAS datasets + genotype imputation TCGA germline SNVs
Adolf et al., 2019 [35]	Tanzania	Tanzanian	75/84	Yes	No	LightSNiP typing assay (TIBMolBiol, Berlin, Germany)
Lei et al., 2016 [4]	Consortia-BCAC	European	42,510/40,577	Yes	Yes	Illumina iCOGS array + imputation (1000 Genomes)

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GWAS: genome-wide association study; HWE: Hardy-Weinberg equilibrium assessed in control groups when applicable; SNP: single-nucleotide polymorphism; TCGA: The Cancer Genome Atlas. Not applicable refers to secondary analyses of publicly available genomic datasets without an independent control group. Confounder adjustment refers to multivariable models including demographic, clinical, or ancestry-related covariates.

Supplementary materials

The supplementary material for this article is available at: https://www.explorationpub.com/uploads/Article/file/1003245_sup_1.pdf. The supplementary table for this article is available at: https://www.explorationpub.com/uploads/Article/file/1003245_sup_2.xlsx.

Declarations

Author contributions

JFV: Conceptualization, Formal analysis, Methodology, Resources, Writing—original draft, Writing—review & editing. MPA: Formal analysis, Methodology, Resources, Writing—original draft, Writing—review & editing. JHV: Formal analysis, Methodology, Resources, Writing—review & editing. All authors read and approved the submitted version.

Conflicts of interest

The authors declare that there are no conflicts of interest.

Ethical approval

Not applicable.

Consent to participate

Not applicable.

Consent to publication

Not applicable.

Availability of data and materials

The datasets that support the findings of this study are available from the corresponding author upon reasonable request.

Funding

Not applicable.

Copyright

Publisher’s note

Open Exploration maintains a neutral stance on jurisdictional claims in published institutional affiliations and maps. All opinions expressed in this article are the personal views of the author(s) and do not represent the stance of the editorial team or the publisher.

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