TMPRSS6 gene polymorphisms associated with iron deficiency anaemia among global population

Mohd Atan, Farah Nur Elina; Wan Mohd Saman, Wan Asmuni; Kamsani, Yuhaniza Shafinie; Khalid, Zalizah; Abdul Rahman, Amirah

doi:10.1186/s43042-022-00362-1

Egyptian Journal of Medical Human Genetics

Table 1 List of identified SNPs in the TMPRSS6 gene across global population. (Location: Line 390)

From: TMPRSS6 gene polymorphisms associated with iron deficiency anaemia among global population

SNP	Population/Ethnicity	Associated trait	Body Mass Index (BMI)	Age	Age group	Reference
rs9610643	India	Associated with IRIDA	Unspecified	6 months to 11 years old	Children	Bhatia et al. [47]
rs855791	European and Indian ancestry	Associated with Hb, MCV, MCH, and MCHC	Unspecified	Unspecified	Unspecified	Chambers et al. [53]
rs855791	Australians	Associated with reduced SI, TS, Hb, and MCV Associated with reduced SI, TS, Hb, and MCV	Unspecified Unspecified	10–17 years old 18–84 years old	Children and young adults Adults	Benyamin et al. [16]
rs855791	Caucasians	Associated with ID	More than 18 kg/m²	35–75 years old	Adults	Beutler et al. [54]
rs855791	Italy and USA	Associated with low SI	Unspecified	50–80 years old	Adults	Tanaka et al. [15]
rs855791	Women Gambian African	Associated with low Hb and serum ferritin	18 kg/m² > BMI > 30 kg/m²	32–86 years old	Adults	Gichohi-Wainaina et al. [59, 61]
rs855791	Dutch ethnicity	Associated with low Hb, SI, and ferritin Associated with low SI and ferritin	Unspecified	1–17 years old 18–41 years old	Children Adults	Kloss-Brandstätter et al. [64]
rs855791	Danish blood donors	T allele associated with low serum ferritin in male donors	Unspecified	18–67 years old	Adults	Sørensen et al. [65]
rs855791	Female Saudi Arabia	T allele exhibit significant association with low SI and SF in IDA group	Unspecified	18–26 years old	Adults	Al Amer et al. [19]
rs855791	Egyptian	Associated with IDA and IRIDA	More than 18 kg/m²	22–45 years old	Adults	Elmahdy et al. [24]
rs855791	Turkish	Associated with iron and blood parameters among IDA patients	Unspecified	18–50 years old	Adults	Batar et al. [67]
rs855791	Taiwanese	Associated with IDA, C allele showed as protective variant	Unspecified	18–40 years old	Adults	Pei et al. [50]
rs855791	Han Chinese	Associated in the risk of IDA, low SI, Hb and TS	Unspecified	50–70 years old	Adults	An et al. [57]
rs855791	India	Associated with IRIDA	Unspecified	6 months to 11 years old	Children	Bhatia et al. [47]
rs855791	Indonesia	Associated with low SI and ferritin	Unspecified	Below 2 years old	Children	Shinta et al. [46]
rs78174698	India	Associated with IRIDA	Unspecified	6 months to 11 years old	Children	Bhatia et al. [47]
rs4820268	European and Indian ancestry	Associated with Hb MCV, MCH and MCHC	Unspecified	Unspecified		Chambers et al. [53]
rs4820268	Dutch ethnicity	Associated with low Hb, SI and ferritin Associated with low SI and ferritin	Unspecified	1–17 years old 18–41 years old	Children Adults	Kloss-Brandstätter et al. [64]
rs4820268	African population	Associated with low Hb	Unspecified	5–13 years old		Gichohi-Wainaina et al. [18]
rs4820268	Italy and USA	Associated with low SI	Unspecified	50–80 years old	Adults	Tanaka et al. [15]
rs4820268	Egyptian	Associated in IRIDA	More than 18 kg/m2	22–45 years old	Adults	Elmahdy et al. [24]
rs4820268	Chinese Adolescents	Associated with low SF	Unspecified	12–17 years old	Young adults	Piao et al. [48]
rs4820268	Han Chinese	Associated in the risk of IDA, low SI, Hb and TS	Unspecified	50–70 years old	Adults	An et al. [57]
rs4820268	Indonesia	Associated with low SI and ferritin	Unspecified	Below 2 years old	Children	Shinta et al. [46]
rs2413450	African population	Associated with low Hb	Unspecified	5–13 years old	Children	Gichohi-Wainaina et al. [18]
rs2160906	Italy and USA	Associated with low SI	Unspecified	50–80 years old	Adults	Tanaka et al. [15]
rs2111833	Whites, African Americans, Hispanics and Asians	Associated with SI, TS, UIBC and TIBC	Unspecified	25–50 years old	Adults	McLaren et al. [66]
rs2235324	Caucasians	Associated with ID	More than 18 kg/m²	35–75 years old	Adults	Beutler et al. [54]
rs2235320	Italy and USA	Moderately associated with low SI	Unspecified	50–80 years old	Adults	Tanaka et al. [15]
rs228918	Women Gambian African	Associated with high sTfR level	18 kg/m² > BMI > 30 kg/m²	32–86 years old	Adults	Gichohi-Wainaina et al. [59, 61]
rs228921	Women Gambian African	Associated with high sTfR level	18 kg/m² > BMI > 30 kg/m²	32–86 years old	Adults	Gichohi-Wainaina et al. [59, 61]
rs2543519	India	Associated with IRIDA	Unspecified	6 months to 11 years old	Children	Bhatia et al. [47]
rs2072860	India	Associated with IRIDA	Unspecified	6 months to 11 years old	Children	Bhatia et al. [47]
rs5756504	Italy and USA	Moderately associated with low SI	Unspecified	50–80 years old	Adults	Tanaka et al. [15]
rs5756504	Japanese	Associated with Hb, MCV and MCH	Unspecified	35–69 years old	Adults	Seiki et al. [52]
rs5756516	India	Associated with IRIDA	Unspecified	6 months to 11 years old	Children	Bhatia et al. [47]
rs1421312	African American	Associated with SI and TS	Unspecified	25–50 years old	Adults	McLaren et al. [66]
rs1421312	Italy and USA	Associated with SI	Unspecified	50–80 years old	Adults	Tanaka et al. [15]

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