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Introduction <p>India has the highest global burden of paediatric type 1 diabetes (T1D), yet data on familial aggregation are scarce. Familial clustering may reveal genetic and environmental drivers, aiding early detection strategies in high-risk groups.</p> Methods <p>We conducted a cross-sectional analysis of 1,199 individuals with T1D registered at a tertiary diabetes centre in Ahmedabad, Gujarat. Demographic data, age at onset, glutamic acid decarboxylase autoantibody status, and detailed history were recorded. Sibling onset intervals and gender/birth-order patterns were analysed descriptively.</p> Results <p>Parental T1D was documented in 4 mothers and 4 fathers. Among affected mothers, 2 had mother–son pairs, 1 had a mother–daughter pair, and 1 had both a son and a daughter with T1D. Affected fathers showed 3 father–son and 1 father–daughter pairs. One bi-parental T1D family had an affected child. Among 22 sibling pairs, 5 were concordant male pairs, 7 were concordant female pairs, and 10 were discordant-gender pairs. Median [IQR] age at T1D onset was 10 [4–12] years in index cases and 13 [8–16] years in siblings. All index cases presented in diabetic ketoacidosis, while 23% of siblings were diagnosed without DKA, facilitated by caregiver vigilance. GAD titres demonstrated heterogeneity.</p> Conclusion <p>Familial T1D clustering in this Indian cohort highlights both parental and sibling transmission, reflecting complex genetic and environmental interactions rather than simple mendelian inheritance. These findings underscore the need for targeted family-based screening and surveillance to enable earlier diagnosis and prevention in high-risk groups.</p>

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Familial assessment and lineage mapping of type 1 diabetes in Ahmedabad India

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年12月8日

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  • Banshi Saboo,
  • Mahira Saiyed,
  • Steven James,
  • Komal Shah

摘要

Introduction

India has the highest global burden of paediatric type 1 diabetes (T1D), yet data on familial aggregation are scarce. Familial clustering may reveal genetic and environmental drivers, aiding early detection strategies in high-risk groups.

Methods

We conducted a cross-sectional analysis of 1,199 individuals with T1D registered at a tertiary diabetes centre in Ahmedabad, Gujarat. Demographic data, age at onset, glutamic acid decarboxylase autoantibody status, and detailed history were recorded. Sibling onset intervals and gender/birth-order patterns were analysed descriptively.

Results

Parental T1D was documented in 4 mothers and 4 fathers. Among affected mothers, 2 had mother–son pairs, 1 had a mother–daughter pair, and 1 had both a son and a daughter with T1D. Affected fathers showed 3 father–son and 1 father–daughter pairs. One bi-parental T1D family had an affected child. Among 22 sibling pairs, 5 were concordant male pairs, 7 were concordant female pairs, and 10 were discordant-gender pairs. Median [IQR] age at T1D onset was 10 [4–12] years in index cases and 13 [8–16] years in siblings. All index cases presented in diabetic ketoacidosis, while 23% of siblings were diagnosed without DKA, facilitated by caregiver vigilance. GAD titres demonstrated heterogeneity.

Conclusion

Familial T1D clustering in this Indian cohort highlights both parental and sibling transmission, reflecting complex genetic and environmental interactions rather than simple mendelian inheritance. These findings underscore the need for targeted family-based screening and surveillance to enable earlier diagnosis and prevention in high-risk groups.